349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Pathogenic not provided RCV000115725.3
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Colorectal Neoplasms RCV000419252.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Hepatocellular carcinoma RCV000419946.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Squamous cell carcinoma of lung RCV000423543.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Small cell lung cancer RCV000424864.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Uterine Carcinosarcoma RCV000427698.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Pancreatic adenocarcinoma RCV000429510.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Neoplasm of the breast RCV000430191.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Malignant melanoma of skin RCV000434251.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Adenocarcinoma of lung RCV000434917.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Oesophageal carcinoma RCV000435593.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Brainstem glioma RCV000436926.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000442798.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Neoplasm of brain RCV000443742.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000443833.1
349 chr17 7578442 7578442 1 + T C BRCA 7578442 + 7578422 7578462 41 TCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG TCATGTGCTGTGACTGCTTGCAGATGGCCATGGCGCGGACG Direct Loss 0.996396412438308 0 NA NA prediction 0.992792824876616 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578442 chr17:7578442 nonsynonymous SNV 0.259 5 21 hm5U_associated_SNPs_250 16 Pathogenic Hereditary cancer-predisposing syndrome RCV000492788.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Acute myeloid leukemia RCV000417891.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Neoplasm of brain RCV000418677.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Neoplasm of the breast RCV000420717.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000423573.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Glioblastoma RCV000425266.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Uterine Carcinosarcoma RCV000426094.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Adenocarcinoma of lung RCV000426791.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Hepatocellular carcinoma RCV000428137.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Pancreatic adenocarcinoma RCV000430955.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Oesophageal carcinoma RCV000433525.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Adenocarcinoma of stomach RCV000433861.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Multiple myeloma RCV000435534.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000436319.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Squamous cell carcinoma of lung RCV000438337.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Chronic lymphocytic leukemia RCV000441219.1
349 chr17 7578266 7578266 1 + T A ESCA 7578266 + 7578246 7578286 41 CAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCA CAAATTTCCTTCCACTCGGAAAAGATGCTGAGGAGGGGCCA Direct Loss 0.995749181932107 0 NA NA prediction 0.991498363864215 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578266 chr17:7578266 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_288 16 Likely pathogenic Colorectal Neoplasms RCV000444892.1
349 chr17 7577566 7577566 1 + T C COAD 7577566 + 7577546 7577586 41 GCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGA GCCGCCCATGCAGGAACTGTCACACATGTAGTTGTAGTGGA Direct Loss 0.995315476944565 0 NA NA prediction 0.990630953889129 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577566 chr17:7577566 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_312 12 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000223044.1
349 chr17 7577566 7577566 1 + T C COAD 7577566 + 7577546 7577586 41 GCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGA GCCGCCCATGCAGGAACTGTCACACATGTAGTTGTAGTGGA Direct Loss 0.995315476944565 0 NA NA prediction 0.990630953889129 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577566 chr17:7577566 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_312 12 Likely pathogenic Adenocarcinoma of lung RCV000421256.1
349 chr17 7577566 7577566 1 + T C COAD 7577566 + 7577546 7577586 41 GCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGA GCCGCCCATGCAGGAACTGTCACACATGTAGTTGTAGTGGA Direct Loss 0.995315476944565 0 NA NA prediction 0.990630953889129 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577566 chr17:7577566 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_312 12 Likely pathogenic Adenocarcinoma of prostate RCV000423612.1
349 chr17 7577566 7577566 1 + T C COAD 7577566 + 7577546 7577586 41 GCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGA GCCGCCCATGCAGGAACTGTCACACATGTAGTTGTAGTGGA Direct Loss 0.995315476944565 0 NA NA prediction 0.990630953889129 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577566 chr17:7577566 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_312 12 Likely pathogenic Malignant neoplasm of body of uterus RCV000424282.1
349 chr17 7577566 7577566 1 + T C COAD 7577566 + 7577546 7577586 41 GCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGA GCCGCCCATGCAGGAACTGTCACACATGTAGTTGTAGTGGA Direct Loss 0.995315476944565 0 NA NA prediction 0.990630953889129 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577566 chr17:7577566 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_312 12 Likely pathogenic Uterine Carcinosarcoma RCV000426851.1
349 chr17 7577566 7577566 1 + T C COAD 7577566 + 7577546 7577586 41 GCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGA GCCGCCCATGCAGGAACTGTCACACATGTAGTTGTAGTGGA Direct Loss 0.995315476944565 0 NA NA prediction 0.990630953889129 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577566 chr17:7577566 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_312 12 Likely pathogenic Adenocarcinoma of stomach RCV000428477.1
349 chr17 7577566 7577566 1 + T C COAD 7577566 + 7577546 7577586 41 GCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGA GCCGCCCATGCAGGAACTGTCACACATGTAGTTGTAGTGGA Direct Loss 0.995315476944565 0 NA NA prediction 0.990630953889129 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577566 chr17:7577566 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_312 12 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000432300.1
349 chr17 7577566 7577566 1 + T C COAD 7577566 + 7577546 7577586 41 GCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGA GCCGCCCATGCAGGAACTGTCACACATGTAGTTGTAGTGGA Direct Loss 0.995315476944565 0 NA NA prediction 0.990630953889129 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577566 chr17:7577566 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_312 12 Likely pathogenic Renal cell carcinoma RCV000433419.1
349 chr17 7577566 7577566 1 + T C COAD 7577566 + 7577546 7577586 41 GCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGA GCCGCCCATGCAGGAACTGTCACACATGTAGTTGTAGTGGA Direct Loss 0.995315476944565 0 NA NA prediction 0.990630953889129 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577566 chr17:7577566 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_312 12 Likely pathogenic Colorectal Neoplasms RCV000434302.1
349 chr17 7577566 7577566 1 + T C COAD 7577566 + 7577546 7577586 41 GCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGA GCCGCCCATGCAGGAACTGTCACACATGTAGTTGTAGTGGA Direct Loss 0.995315476944565 0 NA NA prediction 0.990630953889129 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577566 chr17:7577566 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_312 12 Likely pathogenic Neoplasm of the breast RCV000439114.1
349 chr17 7577566 7577566 1 + T C COAD 7577566 + 7577546 7577586 41 GCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGA GCCGCCCATGCAGGAACTGTCACACATGTAGTTGTAGTGGA Direct Loss 0.995315476944565 0 NA NA prediction 0.990630953889129 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577566 chr17:7577566 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_312 12 Likely pathogenic Hepatocellular carcinoma RCV000441535.1
349 chr17 7577566 7577566 1 + T C COAD 7577566 + 7577546 7577586 41 GCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGA GCCGCCCATGCAGGAACTGTCACACATGTAGTTGTAGTGGA Direct Loss 0.995315476944565 0 NA NA prediction 0.990630953889129 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577566 chr17:7577566 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_312 12 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000442741.1
349 chrX 47040634 47040634 1 + T C rs143203694 47040634 + 47040614 47040654 41 GCCTCCCAAGGTGGGGAGGGTACCTGGGCCACCTCCGAGGA GCCTCCCAAGGTGGGGAGGGCACCTGGGCCACCTCCGAGGA Direct Loss 0.994430495948322 0 NA NA prediction 0.988860991896643 Functional Loss - RBM10 ENSG00000182872 CDS Human protein_coding chrX:47040634 chrX:47040634 synonymous SNV . 0 21 hm5U_associated_SNPs_364 1 Benign not specified RCV000081323.4
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Uncertain significance not specified RCV000161033.2
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Uncertain significance Li-Fraumeni syndrome RCV000200500.1
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Likely pathogenic Neoplasm of the breast RCV000419726.1
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Likely pathogenic Brainstem glioma RCV000421083.1
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Likely pathogenic Malignant neoplasm of body of uterus RCV000421733.1
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Likely pathogenic Oesophageal carcinoma RCV000422107.1
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Likely pathogenic Adenocarcinoma of lung RCV000429307.1
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Likely pathogenic Adenocarcinoma of stomach RCV000430423.1
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000431774.1
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Likely pathogenic Pancreatic adenocarcinoma RCV000434187.1
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Likely pathogenic Colorectal Neoplasms RCV000439317.1
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000439996.1
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Likely pathogenic Neoplasm of brain RCV000443569.1
349 chr17 7577572 7577572 1 + T C HNSC 7577572 + 7577552 7577592 41 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGG CATGCAGGAACTGTTACACACGTAGTTGTAGTGGATGGTGG Direct Loss 0.994343112877168 0 NA NA prediction 0.988686225754335 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577572 chr17:7577572 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_367 14 Likely pathogenic Squamous cell carcinoma of lung RCV000443583.1
349 chr17 7579329 7579329 1 + T C LGG 7579329 + 7579309 7579349 41 GACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGA GACCGTGCAAGTCACAGACTCGGCTGTCCCAGAATGCAAGA Direct Loss 0.994260356615152 0 NA NA prediction 0.988520713230305 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579329 chr17:7579329 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_369 2 Uncertain significance Hereditary cancer-predisposing syndrome RCV000129457.5
349 chr17 7579329 7579329 1 + T C LGG 7579329 + 7579309 7579349 41 GACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGA GACCGTGCAAGTCACAGACTCGGCTGTCCCAGAATGCAAGA Direct Loss 0.994260356615152 0 NA NA prediction 0.988520713230305 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579329 chr17:7579329 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_369 2 Pathogenic not provided RCV000213049.1
349 chr22 18561342 18561342 1 + A G OV 18561342 - 18561322 18561362 41 GTTCCTCTGCCACGGCGTGGTTGGCCAGACTCTGCCAGGCC GTTCCTCTGCCACGGCGTGGCTGGCCAGACTCTGCCAGGCC Direct Loss 0.992812966762898 0 NA NA prediction 0.985625933525797 Functional Loss - PEX26 ENSG00000215193 CDS Human protein_coding chr22:18561342 chr22:18561342 nonsynonymous SNV 0.005 1 21 hm5U_associated_SNPs_462 2 Uncertain significance Zellweger syndrome RCV000338698.1
349 chr22 18561342 18561342 1 + A G OV 18561342 - 18561322 18561362 41 GTTCCTCTGCCACGGCGTGGTTGGCCAGACTCTGCCAGGCC GTTCCTCTGCCACGGCGTGGCTGGCCAGACTCTGCCAGGCC Direct Loss 0.992812966762898 0 NA NA prediction 0.985625933525797 Functional Loss - PEX26 ENSG00000215193 CDS Human protein_coding chr22:18561342 chr22:18561342 nonsynonymous SNV 0.005 1 21 hm5U_associated_SNPs_462 2 Uncertain significance not specified RCV000373287.1
349 chr17 7578440 7578440 1 + T C CESC 7578440 + 7578420 7578460 41 CGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGA CGTCATGTGCTGTGACTGCTCGTAGATGGCCATGGCGCGGA Direct Loss 0.992388729417942 0 NA NA prediction 0.984777458835885 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578440 chr17:7578440 nonsynonymous SNV 0.176 5 21 hm5U_associated_SNPs_492 1 Uncertain significance not specified RCV000235745.1
349 chr17 7577565 7577565 1 + T C COAD 7577565 + 7577545 7577585 41 TGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGG TGCCGCCCATGCAGGAACTGCTACACATGTAGTTGTAGTGG Direct Loss 0.991819997796871 0 NA NA prediction 0.983639995593742 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577565 chr17:7577565 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_541 11 Likely pathogenic Colorectal Neoplasms RCV000418854.1
349 chr17 7577565 7577565 1 + T C COAD 7577565 + 7577545 7577585 41 TGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGG TGCCGCCCATGCAGGAACTGCTACACATGTAGTTGTAGTGG Direct Loss 0.991819997796871 0 NA NA prediction 0.983639995593742 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577565 chr17:7577565 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_541 11 Likely pathogenic Renal cell carcinoma RCV000420011.1
349 chr17 7577565 7577565 1 + T C COAD 7577565 + 7577545 7577585 41 TGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGG TGCCGCCCATGCAGGAACTGCTACACATGTAGTTGTAGTGG Direct Loss 0.991819997796871 0 NA NA prediction 0.983639995593742 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577565 chr17:7577565 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_541 11 Likely pathogenic Malignant neoplasm of body of uterus RCV000426368.1
349 chr17 7577565 7577565 1 + T C COAD 7577565 + 7577545 7577585 41 TGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGG TGCCGCCCATGCAGGAACTGCTACACATGTAGTTGTAGTGG Direct Loss 0.991819997796871 0 NA NA prediction 0.983639995593742 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577565 chr17:7577565 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_541 11 Likely pathogenic Adenocarcinoma of lung RCV000427640.1
349 chr17 7577565 7577565 1 + T C COAD 7577565 + 7577545 7577585 41 TGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGG TGCCGCCCATGCAGGAACTGCTACACATGTAGTTGTAGTGG Direct Loss 0.991819997796871 0 NA NA prediction 0.983639995593742 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577565 chr17:7577565 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_541 11 Likely pathogenic Neoplasm of the breast RCV000428926.1
349 chr17 7577565 7577565 1 + T C COAD 7577565 + 7577545 7577585 41 TGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGG TGCCGCCCATGCAGGAACTGCTACACATGTAGTTGTAGTGG Direct Loss 0.991819997796871 0 NA NA prediction 0.983639995593742 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577565 chr17:7577565 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_541 11 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000429581.1
349 chr17 7577565 7577565 1 + T C COAD 7577565 + 7577545 7577585 41 TGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGG TGCCGCCCATGCAGGAACTGCTACACATGTAGTTGTAGTGG Direct Loss 0.991819997796871 0 NA NA prediction 0.983639995593742 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577565 chr17:7577565 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_541 11 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000436108.1
349 chr17 7577565 7577565 1 + T C COAD 7577565 + 7577545 7577585 41 TGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGG TGCCGCCCATGCAGGAACTGCTACACATGTAGTTGTAGTGG Direct Loss 0.991819997796871 0 NA NA prediction 0.983639995593742 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577565 chr17:7577565 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_541 11 Likely pathogenic Uterine Carcinosarcoma RCV000437044.1
349 chr17 7577565 7577565 1 + T C COAD 7577565 + 7577545 7577585 41 TGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGG TGCCGCCCATGCAGGAACTGCTACACATGTAGTTGTAGTGG Direct Loss 0.991819997796871 0 NA NA prediction 0.983639995593742 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577565 chr17:7577565 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_541 11 Likely pathogenic Adenocarcinoma of stomach RCV000438332.1
349 chr17 7577565 7577565 1 + T C COAD 7577565 + 7577545 7577585 41 TGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGG TGCCGCCCATGCAGGAACTGCTACACATGTAGTTGTAGTGG Direct Loss 0.991819997796871 0 NA NA prediction 0.983639995593742 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577565 chr17:7577565 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_541 11 Likely pathogenic Hepatocellular carcinoma RCV000438482.1
349 chr17 7577565 7577565 1 + T C COAD 7577565 + 7577545 7577585 41 TGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGG TGCCGCCCATGCAGGAACTGCTACACATGTAGTTGTAGTGG Direct Loss 0.991819997796871 0 NA NA prediction 0.983639995593742 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577565 chr17:7577565 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_541 11 Likely pathogenic Adenocarcinoma of prostate RCV000442626.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Colorectal Neoplasms RCV000417666.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000418295.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Transitional cell carcinoma of the bladder RCV000422630.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Malignant melanoma of skin RCV000423200.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Neoplasm of the breast RCV000425049.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Glioblastoma RCV000426486.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Adenocarcinoma of stomach RCV000427158.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Brainstem glioma RCV000428307.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Small cell lung cancer RCV000429194.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Neoplasm of brain RCV000432449.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Acute myeloid leukemia RCV000433906.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000434566.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Hepatocellular carcinoma RCV000434887.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Squamous cell carcinoma of the skin RCV000436394.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Adenocarcinoma of lung RCV000437835.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Renal cell carcinoma RCV000439620.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Adrenocortical carcinoma RCV000439813.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Squamous cell carcinoma of lung RCV000442101.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Oesophageal carcinoma RCV000442185.1
349 chr17 7579314 7579314 1 + T G LGG 7579314 + 7579294 7579334 41 CCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTG CCCCTCAGGGCAACTGACCGGGCAAGTCACAGACTTGGCTG Direct Loss 0.990913756845552 0 NA NA prediction 0.981827513691105 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579314 chr17:7579314 nonsynonymous SNV 0.977 5 21 hm5U_associated_SNPs_602 20 Likely pathogenic Pancreatic adenocarcinoma RCV000443332.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Hepatocellular carcinoma RCV000422077.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Renal cell carcinoma RCV000422980.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000424901.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000427034.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Malignant lymphoma, non-Hodgkin RCV000427749.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Uterine Carcinosarcoma RCV000430410.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Glioblastoma RCV000431652.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Neoplasm of the breast RCV000432320.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Malignant neoplasm of body of uterus RCV000433236.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Pancreatic adenocarcinoma RCV000437254.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Squamous cell carcinoma of lung RCV000437968.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Colorectal Neoplasms RCV000439980.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Multiple myeloma RCV000440667.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Adenocarcinoma of lung RCV000442863.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Oesophageal carcinoma RCV000443687.1
349 chr17 7578235 7578235 1 + T C BRCA 7578235 + 7578215 7578255 41 AAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCT AAGTGTTTCTGTCATCCAAACACTCCACACGCAAATTTCCT Direct Loss 0.989883077488763 0 NA NA prediction 0.979766154977526 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578235 chr17:7578235 nonsynonymous SNV 0.694 5 21 hm5U_associated_SNPs_659 16 Likely pathogenic Neoplasm of brain RCV000443828.1
349 chrX 32662355 32662355 1 + T A rs34155804 32662355 + 32662335 32662375 41 ATCTTCTGATAATTTTCCTGTTCCAATCAGCTTACTTCCCA ATCTTCTGATAATTTTCCTGATCCAATCAGCTTACTTCCCA Direct Loss 0.989270774121193 0 NA NA prediction 0.978541548242387 Functional Loss - DMD ENSG00000198947 CDS Human protein_coding chrX:32662355 chrX:32662355 nonsynonymous SNV 0.997 0 21 hm5U_associated_SNPs_701 3 Benign not specified RCV000080438.8
349 chrX 32662355 32662355 1 + T A rs34155804 32662355 + 32662335 32662375 41 ATCTTCTGATAATTTTCCTGTTCCAATCAGCTTACTTCCCA ATCTTCTGATAATTTTCCTGATCCAATCAGCTTACTTCCCA Direct Loss 0.989270774121193 0 NA NA prediction 0.978541548242387 Functional Loss - DMD ENSG00000198947 CDS Human protein_coding chrX:32662355 chrX:32662355 nonsynonymous SNV 0.997 0 21 hm5U_associated_SNPs_701 3 Benign Duchenne muscular dystrophy RCV000232603.2
349 chrX 32662355 32662355 1 + T A rs34155804 32662355 + 32662335 32662375 41 ATCTTCTGATAATTTTCCTGTTCCAATCAGCTTACTTCCCA ATCTTCTGATAATTTTCCTGATCCAATCAGCTTACTTCCCA Direct Loss 0.989270774121193 0 NA NA prediction 0.978541548242387 Functional Loss - DMD ENSG00000198947 CDS Human protein_coding chrX:32662355 chrX:32662355 nonsynonymous SNV 0.997 0 21 hm5U_associated_SNPs_701 3 Likely benign Dilated cardiomyopathy 3B RCV000392921.1
349 chr17 7578206 7578206 1 + T C LGG 7578206 + 7578186 7578226 41 CTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGT CTCATAGGGCACCACCACACCATGTCGAAAAGTGTTTCTGT Direct Loss 0.987334172393421 0 NA NA prediction 0.974668344786842 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578206 chr17:7578206 nonsynonymous SNV 0.995 5 21 hm5U_associated_SNPs_827 10 Likely pathogenic not provided RCV000255449.1
349 chr17 7578206 7578206 1 + T C LGG 7578206 + 7578186 7578226 41 CTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGT CTCATAGGGCACCACCACACCATGTCGAAAAGTGTTTCTGT Direct Loss 0.987334172393421 0 NA NA prediction 0.974668344786842 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578206 chr17:7578206 nonsynonymous SNV 0.995 5 21 hm5U_associated_SNPs_827 10 Likely pathogenic Small cell lung cancer RCV000418361.1
349 chr17 7578206 7578206 1 + T C LGG 7578206 + 7578186 7578226 41 CTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGT CTCATAGGGCACCACCACACCATGTCGAAAAGTGTTTCTGT Direct Loss 0.987334172393421 0 NA NA prediction 0.974668344786842 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578206 chr17:7578206 nonsynonymous SNV 0.995 5 21 hm5U_associated_SNPs_827 10 Likely pathogenic Adenocarcinoma of lung RCV000419408.1
349 chr17 7578206 7578206 1 + T C LGG 7578206 + 7578186 7578226 41 CTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGT CTCATAGGGCACCACCACACCATGTCGAAAAGTGTTTCTGT Direct Loss 0.987334172393421 0 NA NA prediction 0.974668344786842 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578206 chr17:7578206 nonsynonymous SNV 0.995 5 21 hm5U_associated_SNPs_827 10 Likely pathogenic Adenocarcinoma of stomach RCV000427564.1
349 chr17 7578206 7578206 1 + T C LGG 7578206 + 7578186 7578226 41 CTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGT CTCATAGGGCACCACCACACCATGTCGAAAAGTGTTTCTGT Direct Loss 0.987334172393421 0 NA NA prediction 0.974668344786842 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578206 chr17:7578206 nonsynonymous SNV 0.995 5 21 hm5U_associated_SNPs_827 10 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000429054.1
349 chr17 7578206 7578206 1 + T C LGG 7578206 + 7578186 7578226 41 CTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGT CTCATAGGGCACCACCACACCATGTCGAAAAGTGTTTCTGT Direct Loss 0.987334172393421 0 NA NA prediction 0.974668344786842 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578206 chr17:7578206 nonsynonymous SNV 0.995 5 21 hm5U_associated_SNPs_827 10 Likely pathogenic Hepatocellular carcinoma RCV000430142.1
349 chr17 7578206 7578206 1 + T C LGG 7578206 + 7578186 7578226 41 CTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGT CTCATAGGGCACCACCACACCATGTCGAAAAGTGTTTCTGT Direct Loss 0.987334172393421 0 NA NA prediction 0.974668344786842 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578206 chr17:7578206 nonsynonymous SNV 0.995 5 21 hm5U_associated_SNPs_827 10 Likely pathogenic Neoplasm of the breast RCV000436667.1
349 chr17 7578206 7578206 1 + T C LGG 7578206 + 7578186 7578226 41 CTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGT CTCATAGGGCACCACCACACCATGTCGAAAAGTGTTTCTGT Direct Loss 0.987334172393421 0 NA NA prediction 0.974668344786842 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578206 chr17:7578206 nonsynonymous SNV 0.995 5 21 hm5U_associated_SNPs_827 10 Likely pathogenic Oesophageal carcinoma RCV000437324.1
349 chr17 7578206 7578206 1 + T C LGG 7578206 + 7578186 7578226 41 CTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGT CTCATAGGGCACCACCACACCATGTCGAAAAGTGTTTCTGT Direct Loss 0.987334172393421 0 NA NA prediction 0.974668344786842 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578206 chr17:7578206 nonsynonymous SNV 0.995 5 21 hm5U_associated_SNPs_827 10 Likely pathogenic Pancreatic adenocarcinoma RCV000439730.1
349 chr17 7578206 7578206 1 + T C LGG 7578206 + 7578186 7578226 41 CTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGT CTCATAGGGCACCACCACACCATGTCGAAAAGTGTTTCTGT Direct Loss 0.987334172393421 0 NA NA prediction 0.974668344786842 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578206 chr17:7578206 nonsynonymous SNV 0.995 5 21 hm5U_associated_SNPs_827 10 Likely pathogenic Acute myeloid leukemia RCV000445278.1
349 chr19 47112429 47112429 1 + G A rs368104478 47112429 - 47112409 47112449 41 GATCAAGAGAACGGGCATCGCCAGCTGCCCGGGGGGCCTTC GATCAAGAGAACGGGCATCGTCAGCTGCCCGGGGGGCCTTC Direct Gain 0 0.998635555375562 NA NA prediction 0.997271110751125 Functional Gain - CALM3 ENSG00000160014 UTR3 Human protein_coding chr19:47112429 chr19:47112429 . . 0 21 hm5U_associated_SNPs_863 1 Likely benign not specified RCV000429385.1
349 chr1 26796359 26796359 1 + C A rs573311409 26796359 - 26796339 26796379 41 TTACCCTGAACCATGGAGGGGGCCAGTCTCATTTGGGAGTG TTACCCTGAACCATGGAGGGTGCCAGTCTCATTTGGGAGTG Direct Gain 0 0.997685770664019 NA NA prediction 0.995371541328038 Functional Gain - DHDDS ENSG00000117682 UTR3 Human protein_coding chr1:26796359 chr1:26796359 . . 0 21 hm5U_associated_SNPs_916 1 Uncertain significance Retinitis Pigmentosa, Recessive RCV000331436.1
349 chr6 146755140 146755140 1 + G A rs2942 146755140 - 146755120 146755160 41 TGGTAACTTTTAGTGAGGGGCTTGATGACGGCTGTTTGGTT TGGTAACTTTTAGTGAGGGGTTTGATGACGGCTGTTTGGTT Direct Gain 0 0.996614016471024 NA NA prediction 0.993228032942048 Functional Gain - GRM1 ENSG00000152822 CDS Human protein_coding chr6:146755140 chr6:146755140 synonymous SNV . 0 21 hm5U_associated_SNPs_1101 1 Likely benign not specified RCV000117204.2
349 chr10 8100462 8100462 1 + G A READ 8100462 - 8100442 8100482 41 GGTGAAGAGGTGCGGGCTGGCGTGGCCCCCCGACAAGGAGG GGTGAAGAGGTGCGGGCTGGTGTGGCCCCCCGACAAGGAGG Direct Gain 0 0.995977230398469 NA NA prediction 0.991954460796937 Functional Gain - GATA3 ENSG00000107485 CDS Human protein_coding chr10:8100462 chr10:8100462 nonsynonymous SNV 0.996 1 21 hm5U_associated_SNPs_1285 1 Uncertain significance Barakat syndrome RCV000358251.1
349 chr18 19751327 19751327 1 + G A rs374402554 19751327 - 19751307 19751347 41 CTGAGCAGCAGCGAGCGGGCCGGGGGTCCGGCCGCCGCCTC CTGAGCAGCAGCGAGCGGGCTGGGGGTCCGGCCGCCGCCTC Direct Gain 0 0.995741613629132 NA NA prediction 0.991483227258264 Functional Gain - GATA6 ENSG00000141448 CDS Human protein_coding chr18:19751327 chr18:19751327 synonymous SNV . 0 21 hm5U_associated_SNPs_1380 1 Benign Atrioventricular septal defect 5 RCV000229334.2
349 chr14 81610522 81610522 1 + G A CESC 81610522 - 81610502 81610542 41 TTGGAGGAACCCTCTGCCCCCGGTATGCCTGAGCCTGGCGT TTGGAGGAACCCTCTGCCCCTGGTATGCCTGAGCCTGGCGT Direct Gain 0 0.995703570974995 NA NA prediction 0.991407141949989 Functional Gain - TSHR ENSG00000165409 CDS Human protein_coding chr14:81610522 chr14:81610522 nonsynonymous SNV 0.922 1 21 hm5U_associated_SNPs_1403 2 Uncertain significance Hyperthyroidism, nonautoimmune RCV000334617.1
349 chr14 81610522 81610522 1 + G A CESC 81610522 - 81610502 81610542 41 TTGGAGGAACCCTCTGCCCCCGGTATGCCTGAGCCTGGCGT TTGGAGGAACCCTCTGCCCCTGGTATGCCTGAGCCTGGCGT Direct Gain 0 0.995703570974995 NA NA prediction 0.991407141949989 Functional Gain - TSHR ENSG00000165409 CDS Human protein_coding chr14:81610522 chr14:81610522 nonsynonymous SNV 0.922 1 21 hm5U_associated_SNPs_1403 2 Uncertain significance Congenital hypothyroidism RCV000401092.1
349 chr11 128781835 128781835 1 + G A PAAD 128781835 - 128781815 128781855 41 GATGTGGGAGTTGCGGAGGTCGCCCACCCGGAACATGAGGC GATGTGGGAGTTGCGGAGGTTGCCCACCCGGAACATGAGGC Direct Gain 0 0.995656092784767 NA NA prediction 0.991312185569535 Functional Gain - KCNJ5 ENSG00000120457 CDS Human protein_coding chr11:128781835 chr11:128781835 nonsynonymous SNV 0.963 4 21 hm5U_associated_SNPs_1426 1 Uncertain significance Long QT syndrome RCV000206619.1
349 chr14 37132613 37132613 1 + G A rs61734510 37132613 - 37132593 37132633 41 ACCCCGGGTGGCGTGGGCACCTTGGCGGCCGCCGCCGTGAT ACCCCGGGTGGCGTGGGCACTTTGGCGGCCGCCGCCGTGAT Direct Gain 0 0.995367893057286 NA NA prediction 0.990735786114571 Functional Gain - PAX9 ENSG00000198807 CDS Human protein_coding chr14:37132613 chr14:37132613 synonymous SNV . 0 21 hm5U_associated_SNPs_1538 1 Likely benign Selective tooth agenesis RCV000371605.1
349 chr1 3328335 3328335 1 + G A STAD 3328335 - 3328315 3328355 41 TGGGAGGTAGCAGAGGCGGCCGGGGGTACAAGGATGGAGGG TGGGAGGTAGCAGAGGCGGCTGGGGGTACAAGGATGGAGGG Direct Gain 0 0.995176407198855 NA NA prediction 0.990352814397711 Functional Gain - PRDM16 ENSG00000142611 CDS Human protein_coding chr1:3328335 chr1:3328335 nonsynonymous SNV 0.696 3 21 hm5U_associated_SNPs_1616 1 Uncertain significance not specified RCV000213365.1
349 chr2 233410295 233410295 1 + G A UCEC 233410295 - 233410275 233410315 41 GAGCATGGCCAGGAAGCAGACGCGGTCCAGCACTCGGCCCA GAGCATGGCCAGGAAGCAGATGCGGTCCAGCACTCGGCCCA Direct Gain 0 0.994759597434111 NA NA prediction 0.989519194868223 Functional Gain - CHRNG ENSG00000196811 CDS Human protein_coding chr2:233410295 chr2:233410295 nonsynonymous SNV 0.977 2 21 hm5U_associated_SNPs_1801 1 Uncertain significance Multiple pterygium syndrome Escobar type RCV000264568.1
349 chr19 41916731 41916731 1 + G A rs376894084 41916731 - 41916711 41916751 41 GCACGGGAAGTGGGGGAGGCCGCCTCTCACGTGGGGGTCCT GCACGGGAAGTGGGGGAGGCTGCCTCTCACGTGGGGGTCCT Direct Gain 0 0.994664235388789 NA NA prediction 0.989328470777578 Functional Gain - BCKDHA ENSG00000248098;ENSG00000255730 intronic Human other chr19:41916731 chr19:41916731 . . 0 21 hm5U_associated_SNPs_1839 1 Uncertain significance Maple syrup urine disease RCV000328198.1
349 chr16 7568247 7568247 1 + G A rs17143930 7568247 - 7568227 7568267 41 GCGGGGTGGGGATGAGGGGCCGTGTATTCCGCGGGGATACC GCGGGGTGGGGATGAGGGGCTGTGTATTCCGCGGGGATACC Direct Gain 0 0.994578286794801 NA NA prediction 0.989156573589602 Functional Gain - RBFOX1 ENSG00000078328 CDS Human protein_coding chr16:7568247 chr16:7568247 synonymous SNV . 0 21 hm5U_associated_SNPs_1882 1 Benign Idiopathic generalized epilepsy RCV000461385.1
349 chr1 237804242 237804242 1 + G A rs371560909 237804242 - 237804222 237804262 41 GCTGAATAGAAGGTCATGATCGCGTTCCCCATGTGGATAGT GCTGAATAGAAGGTCATGATTGCGTTCCCCATGTGGATAGT Direct Gain 0 0.994437891123649 NA NA prediction 0.988875782247299 Functional Gain - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237804242 chr1:237804242 synonymous SNV . 0 21 hm5U_associated_SNPs_1975 3 other not specified RCV000127841.4
349 chr1 237804242 237804242 1 + G A rs371560909 237804242 - 237804222 237804262 41 GCTGAATAGAAGGTCATGATCGCGTTCCCCATGTGGATAGT GCTGAATAGAAGGTCATGATTGCGTTCCCCATGTGGATAGT Direct Gain 0 0.994437891123649 NA NA prediction 0.988875782247299 Functional Gain - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237804242 chr1:237804242 synonymous SNV . 0 21 hm5U_associated_SNPs_1975 3 Likely benign Cardiovascular phenotype RCV000241725.1
349 chr1 237804242 237804242 1 + G A rs371560909 237804242 - 237804222 237804262 41 GCTGAATAGAAGGTCATGATCGCGTTCCCCATGTGGATAGT GCTGAATAGAAGGTCATGATTGCGTTCCCCATGTGGATAGT Direct Gain 0 0.994437891123649 NA NA prediction 0.988875782247299 Functional Gain - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237804242 chr1:237804242 synonymous SNV . 0 21 hm5U_associated_SNPs_1975 3 Benign Catecholaminergic polymorphic ventricular tachycardia RCV000467570.1
349 chrX 66765627 66765627 1 + G A rs6152 66765627 - 66765607 66765647 41 GAAGTGGGAGCCCCCGAGGCCTCCCTCGCTCTCCCGCTGCT GAAGTGGGAGCCCCCGAGGCTTCCCTCGCTCTCCCGCTGCT Direct Gain 0 0.994127206429268 NA NA prediction 0.988254412858536 Functional Gain - AR ENSG00000169083 CDS Human protein_coding chrX:66765627 chrX:66765627 synonymous SNV . 0 21 hm5U_associated_SNPs_2189 2 Benign Androgen resistance syndrome RCV000143829.2
349 chrX 66765627 66765627 1 + G A rs6152 66765627 - 66765607 66765647 41 GAAGTGGGAGCCCCCGAGGCCTCCCTCGCTCTCCCGCTGCT GAAGTGGGAGCCCCCGAGGCTTCCCTCGCTCTCCCGCTGCT Direct Gain 0 0.994127206429268 NA NA prediction 0.988254412858536 Functional Gain - AR ENSG00000169083 CDS Human protein_coding chrX:66765627 chrX:66765627 synonymous SNV . 0 21 hm5U_associated_SNPs_2189 2 Benign not specified RCV000244696.1
349 chr7 75932038 75932038 1 + G A rs77586767 75932038 - 75932018 75932058 41 AGCGAGAAGGGGACGCGGCGCTCGGTCATGCTGGCTGACTC AGCGAGAAGGGGACGCGGCGTTCGGTCATGCTGGCTGACTC Direct Gain 0 0.99409626235394 NA NA prediction 0.98819252470788 Functional Gain - HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75932038 chr7:75932038 synonymous SNV . 0 21 hm5U_associated_SNPs_2212 2 Likely benign not specified RCV000173261.2
349 chr7 75932038 75932038 1 + G A rs77586767 75932038 - 75932018 75932058 41 AGCGAGAAGGGGACGCGGCGCTCGGTCATGCTGGCTGACTC AGCGAGAAGGGGACGCGGCGTTCGGTCATGCTGGCTGACTC Direct Gain 0 0.99409626235394 NA NA prediction 0.98819252470788 Functional Gain - HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75932038 chr7:75932038 synonymous SNV . 0 21 hm5U_associated_SNPs_2212 2 Benign Charcot-Marie-Tooth disease type 2F RCV000206103.3
349 chr19 35524562 35524562 1 + G A CESC 35524562 - 35524542 35524582 41 GAAGAAGAGCAGGCGGTAGACGTGGCACTCGTAGTCGCCCG GAAGAAGAGCAGGCGGTAGATGTGGCACTCGTAGTCGCCCG Direct Gain 0 0.994066989775019 NA NA prediction 0.988133979550038 Functional Gain - SCN1B ENSG00000105711 CDS Human protein_coding chr19:35524562 chr19:35524562 nonsynonymous SNV 1.000 2 21 hm5U_associated_SNPs_2229 1 Uncertain significance not specified RCV000171042.3
349 chr14 81609744 81609744 1 + G A COAD 81609744 - 81609724 81609764 41 GCACATGAGAAAGCGGGGGACGTTCAGTTTGTAGTGGCTGG GCACATGAGAAAGCGGGGGATGTTCAGTTTGTAGTGGCTGG Direct Gain 0 0.994034880319853 NA NA prediction 0.988069760639707 Functional Gain - TSHR ENSG00000165409 CDS Human protein_coding chr14:81609744 chr14:81609744 nonsynonymous SNV 0.237 5 21 hm5U_associated_SNPs_2249 1 Likely pathogenic Inborn genetic diseases RCV000190814.1
349 chr8 74894627 74894627 1 + G A rs6472811 74894627 - 74894607 74894647 41 GCTTAACTATCTGAGGACTGCGCAAGTCAATGAGTCGCTTG GCTTAACTATCTGAGGACTGTGCAAGTCAATGAGTCGCTTG Direct Gain 0 0.993874497118668 NA NA prediction 0.987748994237336 Functional Gain - TMEM70 ENSG00000244295 ncRNA_exonic Human processed_pseudogene chr8:74894627 chr8:74894627 . . 0 21 hm5U_associated_SNPs_2354 1 Benign Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type RCV000379126.1
349 chr14 29237392 29237392 1 + G A UCEC 29237392 - 29237372 29237412 41 GGGCCAGTAGAGGGAGCCGGCGCGGTCCATGAAGGTGAGGC GGGCCAGTAGAGGGAGCCGGTGCGGTCCATGAAGGTGAGGC Direct Gain 0 0.993392367473486 NA NA prediction 0.986784734946972 Functional Gain - FOXG1 ENSG00000176165 CDS Human protein_coding chr14:29237392 chr14:29237392 nonsynonymous SNV 1.000 1 21 hm5U_associated_SNPs_2718 1 Likely benign not specified RCV000428532.1
349 chr1 218520157 218520157 1 + G A rs149215818 218520157 - 218520137 218520177 41 AGGATCTGCCCGCGGATCGCCTCGATCCTCTTGCGCATGAA AGGATCTGCCCGCGGATCGCTTCGATCCTCTTGCGCATGAA Direct Gain 0 0.993350008802375 NA NA prediction 0.98670001760475 Functional Gain - TGFB2 ENSG00000092969 CDS Human protein_coding chr1:218520157 chr1:218520157 synonymous SNV . 0 21 hm5U_associated_SNPs_2760 4 Benign not specified RCV000200359.2
349 chr1 218520157 218520157 1 + G A rs149215818 218520157 - 218520137 218520177 41 AGGATCTGCCCGCGGATCGCCTCGATCCTCTTGCGCATGAA AGGATCTGCCCGCGGATCGCTTCGATCCTCTTGCGCATGAA Direct Gain 0 0.993350008802375 NA NA prediction 0.98670001760475 Functional Gain - TGFB2 ENSG00000092969 CDS Human protein_coding chr1:218520157 chr1:218520157 synonymous SNV . 0 21 hm5U_associated_SNPs_2760 4 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000254226.1
349 chr1 218520157 218520157 1 + G A rs149215818 218520157 - 218520137 218520177 41 AGGATCTGCCCGCGGATCGCCTCGATCCTCTTGCGCATGAA AGGATCTGCCCGCGGATCGCTTCGATCCTCTTGCGCATGAA Direct Gain 0 0.993350008802375 NA NA prediction 0.98670001760475 Functional Gain - TGFB2 ENSG00000092969 CDS Human protein_coding chr1:218520157 chr1:218520157 synonymous SNV . 0 21 hm5U_associated_SNPs_2760 4 Likely benign Loeys-Dietz syndrome RCV000358235.1
349 chr1 218520157 218520157 1 + G A rs149215818 218520157 - 218520137 218520177 41 AGGATCTGCCCGCGGATCGCCTCGATCCTCTTGCGCATGAA AGGATCTGCCCGCGGATCGCTTCGATCCTCTTGCGCATGAA Direct Gain 0 0.993350008802375 NA NA prediction 0.98670001760475 Functional Gain - TGFB2 ENSG00000092969 CDS Human protein_coding chr1:218520157 chr1:218520157 synonymous SNV . 0 21 hm5U_associated_SNPs_2760 4 Benign Holt-Oram syndrome RCV000470304.1
349 chr4 6303197 6303197 1 + G A HNSC 6303197 - 6303177 6303217 41 GAGGAAGTAGCCGATGGAGGCGCGGAGCAGCCCCAGGCCGG GAGGAAGTAGCCGATGGAGGTGCGGAGCAGCCCCAGGCCGG Direct Gain 0 0.993340798002332 NA NA prediction 0.986681596004664 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303197 chr4:6303197 nonsynonymous SNV 0.578 1 21 hm5U_associated_SNPs_2769 4 Uncertain significance not provided RCV000081339.6
349 chr4 6303197 6303197 1 + G A HNSC 6303197 - 6303177 6303217 41 GAGGAAGTAGCCGATGGAGGCGCGGAGCAGCCCCAGGCCGG GAGGAAGTAGCCGATGGAGGTGCGGAGCAGCCCCAGGCCGG Direct Gain 0 0.993340798002332 NA NA prediction 0.986681596004664 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303197 chr4:6303197 nonsynonymous SNV 0.578 1 21 hm5U_associated_SNPs_2769 4 other not specified RCV000150097.5
349 chr4 6303197 6303197 1 + G A HNSC 6303197 - 6303177 6303217 41 GAGGAAGTAGCCGATGGAGGCGCGGAGCAGCCCCAGGCCGG GAGGAAGTAGCCGATGGAGGTGCGGAGCAGCCCCAGGCCGG Direct Gain 0 0.993340798002332 NA NA prediction 0.986681596004664 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303197 chr4:6303197 nonsynonymous SNV 0.578 1 21 hm5U_associated_SNPs_2769 4 Likely benign WFS1-Related Spectrum Disorders RCV000281797.1
349 chr4 6303197 6303197 1 + G A HNSC 6303197 - 6303177 6303217 41 GAGGAAGTAGCCGATGGAGGCGCGGAGCAGCCCCAGGCCGG GAGGAAGTAGCCGATGGAGGTGCGGAGCAGCCCCAGGCCGG Direct Gain 0 0.993340798002332 NA NA prediction 0.986681596004664 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303197 chr4:6303197 nonsynonymous SNV 0.578 1 21 hm5U_associated_SNPs_2769 4 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000336857.1
349 chr18 72999868 72999868 1 + G A UCEC 72999868 - 72999848 72999888 41 GTCGGAGATGTCCATGAGTGCGCTCTCCCGCAGAGGTGATG GTCGGAGATGTCCATGAGTGTGCTCTCCCGCAGAGGTGATG Direct Gain 0 0.993192349780588 NA NA prediction 0.986384699561176 Functional Gain - TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72999868 chr18:72999868 nonsynonymous SNV 0.672 4 21 hm5U_associated_SNPs_2882 1 Likely benign Aural atresia, congenital RCV000349912.1
349 chr11 17627548 17627548 1 + G A rs145689709 17627548 - 17627528 17627568 41 GGGCCACCAGGCCTGCCTGCCGTGTCCCCCGGTGCAGCAAG GGGCCACCAGGCCTGCCTGCTGTGTCCCCCGGTGCAGCAAG Direct Gain 0 0.993143263379909 NA NA prediction 0.986286526759818 Functional Gain - OTOG ENSG00000188162 CDS Human protein_coding chr11:17627548 chr11:17627548 nonsynonymous SNV 0.762 1 21 hm5U_associated_SNPs_2910 1 Benign not specified RCV000216051.1
349 chr17 45000565 45000565 1 + C A rs12944167 45000565 - 45000545 45000585 41 GTGCGTTTGCTGGAACAGGGGATCCATGTCGCCGGCCCCGC GTGCGTTTGCTGGAACAGGGTATCCATGTCGCCGGCCCCGC Direct Gain 0 0.992977250461477 NA NA prediction 0.985954500922955 Functional Gain - GOSR2 ENSG00000108433;ENSG00000262633 CDS Human other chr17:45000565 chr17:45000565 nonsynonymous SNV 0.088 1 21 hm5U_associated_SNPs_3042 2 Benign not specified RCV000173332.3
349 chr17 45000565 45000565 1 + C A rs12944167 45000565 - 45000545 45000585 41 GTGCGTTTGCTGGAACAGGGGATCCATGTCGCCGGCCCCGC GTGCGTTTGCTGGAACAGGGTATCCATGTCGCCGGCCCCGC Direct Gain 0 0.992977250461477 NA NA prediction 0.985954500922955 Functional Gain - GOSR2 ENSG00000108433;ENSG00000262633 CDS Human other chr17:45000565 chr17:45000565 nonsynonymous SNV 0.088 1 21 hm5U_associated_SNPs_3042 2 other Progressive myoclonic epilepsy RCV000227553.3
349 chr1 7723500 7723500 1 + G A SKCM 7723500 - 7723480 7723520 41 GCTGCACCTCCGAGTGGCTCCCGTACCCCCCTGTCCGTGGC GCTGCACCTCCGAGTGGCTCTCGTACCCCCCTGTCCGTGGC Direct Gain 0 0.992960380417325 NA NA prediction 0.98592076083465 Functional Gain - CAMTA1 ENSG00000171735 CDS Human protein_coding chr1:7723500 chr1:7723500 nonsynonymous SNV 0.996 1 21 hm5U_associated_SNPs_3054 1 Uncertain significance not specified RCV000430592.1
349 chr4 126238694 126238694 1 + G A rs202216461 126238694 - 126238674 126238714 41 GTCACGGTGAGCAGAGCCACCACGGTGCCCACTTGAGCATT GTCACGGTGAGCAGAGCCACTACGGTGCCCACTTGAGCATT Direct Gain 0 0.992920588284255 NA NA prediction 0.98584117656851 Functional Gain - FAT4 ENSG00000196159 CDS Human protein_coding chr4:126238694 chr4:126238694 synonymous SNV . 0 21 hm5U_associated_SNPs_3095 1 Likely benign not specified RCV000433407.1
349 chr17 2497185 2497185 1 + C A rs187878265 2497185 - 2497165 2497205 41 GGAGGGAGGGAAGGAGGGGGGAGGATGGCGCGCTGGGCCCG GGAGGGAGGGAAGGAGGGGGTAGGATGGCGCGCTGGGCCCG Direct Gain 0 0.99291688127061 NA NA prediction 0.98583376254122 Functional Gain - PAFAH1B1 ENSG00000007168 UTR5 Human protein_coding chr17:2497185 chr17:2497185 . . 0 21 hm5U_associated_SNPs_3097 1 Likely benign Lissencephaly/Subcortical Band Heterotopia RCV000322320.1
349 chr1 53676854 53676854 1 + G A BRCA 53676854 - 53676834 53676874 41 TTGTATAGACGGAGGCCGGGCGGATGGTCTCAGTGCGGCCG TTGTATAGACGGAGGCCGGGTGGATGGTCTCAGTGCGGCCG Direct Gain 0 0.992850545963295 NA NA prediction 0.98570109192659 Functional Gain - CPT2 ENSG00000157184 CDS Human protein_coding chr1:53676854 chr1:53676854 nonsynonymous SNV 0.850 4 21 hm5U_associated_SNPs_3157 1 Uncertain significance Carnitine palmitoyltransferase II deficiency RCV000357481.1
349 chrX 31496313 31496313 1 + C T UCEC 31496313 + 31496293 31496333 41 ATCACCTCAGCTTGGCGCAGCTTGAGGTCCAGCTCATCCGT ATCACCTCAGCTTGGCGCAGTTTGAGGTCCAGCTCATCCGT Direct Gain 0 0.992729065707598 NA NA prediction 0.985458131415197 Functional Gain - DMD ENSG00000198947 CDS Human protein_coding chrX:31496313 chrX:31496313 synonymous SNV . 0 21 hm5U_associated_SNPs_3250 1 Likely benign not specified RCV000242908.1
349 chr8 55533908 55533908 1 + C A rs147116231 55533908 - 55533888 55533928 41 GCTAATGGCCCGGCTGCTGAGCCAGGGCCGCGGGCGCCGAC GCTAATGGCCCGGCTGCTGATCCAGGGCCGCGGGCGCCGAC Direct Gain 0 0.992648145795807 NA NA prediction 0.985296291591615 Functional Gain - RP1 ENSG00000104237 CDS Human protein_coding chr8:55533908 chr8:55533908 nonsynonymous SNV 0.986 1 21 hm5U_associated_SNPs_3324 1 Benign not specified RCV000354871.1
349 chr17 4908241 4908241 1 + G A rs142056835 4908241 - 4908221 4908261 41 CAGCAGTTCCCGCAGCCGGGCTACTTCCTCCTGCAGCTCTC CAGCAGTTCCCGCAGCCGGGTTACTTCCTCCTGCAGCTCTC Direct Gain 0 0.992577061200657 NA NA prediction 0.985154122401313 Functional Gain - KIF1C ENSG00000129250 CDS Human protein_coding chr17:4908241 chr17:4908241 nonsynonymous SNV 0.984 0 21 hm5U_associated_SNPs_3376 2 Uncertain significance not provided RCV000487792.1
349 chr17 4908241 4908241 1 + G A rs142056835 4908241 - 4908221 4908261 41 CAGCAGTTCCCGCAGCCGGGCTACTTCCTCCTGCAGCTCTC CAGCAGTTCCCGCAGCCGGGTTACTTCCTCCTGCAGCTCTC Direct Gain 0 0.992577061200657 NA NA prediction 0.985154122401313 Functional Gain - KIF1C ENSG00000129250 CDS Human protein_coding chr17:4908241 chr17:4908241 nonsynonymous SNV 0.984 0 21 hm5U_associated_SNPs_3376 2 Uncertain significance not specified RCV000497507.1
349 chr18 42643081 42643081 1 + G A rs565949588 42643081 - 42643061 42643101 41 TCGCACTGGATGGCTTCGATCTCCCGCCGCTTGAACCTCTT TCGCACTGGATGGCTTCGATTTCCCGCCGCTTGAACCTCTT Direct Gain 0 0.992570034005821 NA NA prediction 0.985140068011641 Functional Gain - SETBP1 ENSG00000152217 CDS Human protein_coding chr18:42643081 chr18:42643081 synonymous SNV . 0 21 hm5U_associated_SNPs_3383 1 Likely benign Schinzel-Giedion syndrome RCV000287443.1
349 chr9 131094453 131094453 1 + G A rs34043652 131094453 - 131094433 131094473 41 ATCCACGAAGCGGGTGGGTGCTCGGGTGTCTGGGGAGACCC ATCCACGAAGCGGGTGGGTGTTCGGGTGTCTGGGGAGACCC Direct Gain 0 0.992398945108968 NA NA prediction 0.984797890217935 Functional Gain - COQ4 ENSG00000167113 CDS Human protein_coding chr9:131094453 chr9:131094453 nonsynonymous SNV 0.938 2 21 hm5U_associated_SNPs_3533 1 Benign not specified RCV000444510.1
349 chr2 204732725 204732725 1 + G A CESC 204732725 - 204732705 204732745 41 AAAAACAGGAGAGTGCAGGGCCAGGTCCTGGTAGCCAGGTT AAAAACAGGAGAGTGCAGGGTCAGGTCCTGGTAGCCAGGTT Direct Gain 0 0.9923931665597 NA NA prediction 0.984786333119401 Functional Gain - CTLA4 ENSG00000163599 CDS Human protein_coding chr2:204732725 chr2:204732725 stopgain 0.025 0 21 hm5U_associated_SNPs_3537 1 Pathogenic not provided RCV000274542.1
349 chr2 233399868 233399868 1 + G A rs148939701 233399868 - 233399848 233399888 41 GGCAGAGGCGGTCCACTGTGCGGGCCACTCGGTTCCAGCTG GGCAGAGGCGGTCCACTGTGTGGGCCACTCGGTTCCAGCTG Direct Gain 0 0.992357915526792 NA NA prediction 0.984715831053583 Functional Gain - CHRND ENSG00000135902 CDS Human protein_coding chr2:233399868 chr2:233399868 nonsynonymous SNV 0.999 5 21 hm5U_associated_SNPs_3566 1 other not specified RCV000174260.2
349 chr19 7600857 7600857 1 + G A rs35732838 7600857 - 7600837 7600877 41 AGGATGAGCACGGCCGTGACCACCACCGCCACTCCGGCCCC AGGATGAGCACGGCCGTGACTACCACCGCCACTCCGGCCCC Direct Gain 0 0.992309008109715 NA NA prediction 0.984618016219429 Functional Gain - PNPLA6 ENSG00000032444 CDS Human protein_coding chr19:7600857 chr19:7600857 synonymous SNV . 0 21 hm5U_associated_SNPs_3614 3 Likely benign Spastic Paraplegia, Recessive RCV000264716.1
349 chr19 7600857 7600857 1 + G A rs35732838 7600857 - 7600837 7600877 41 AGGATGAGCACGGCCGTGACCACCACCGCCACTCCGGCCCC AGGATGAGCACGGCCGTGACTACCACCGCCACTCCGGCCCC Direct Gain 0 0.992309008109715 NA NA prediction 0.984618016219429 Functional Gain - PNPLA6 ENSG00000032444 CDS Human protein_coding chr19:7600857 chr19:7600857 synonymous SNV . 0 21 hm5U_associated_SNPs_3614 3 Likely benign Ganglioside sialidase deficiency RCV000324046.1
349 chr19 7600857 7600857 1 + G A rs35732838 7600857 - 7600837 7600877 41 AGGATGAGCACGGCCGTGACCACCACCGCCACTCCGGCCCC AGGATGAGCACGGCCGTGACTACCACCGCCACTCCGGCCCC Direct Gain 0 0.992309008109715 NA NA prediction 0.984618016219429 Functional Gain - PNPLA6 ENSG00000032444 CDS Human protein_coding chr19:7600857 chr19:7600857 synonymous SNV . 0 21 hm5U_associated_SNPs_3614 3 Benign Spastic paraplegia 39 RCV000464986.1
349 chrX 129149417 129149417 1 + G A rs201843717 129149417 - 129149397 129149437 41 GAACGAAGGAGCCCCCAGGCCGTGGTTGCCCCTCAGGAAGT GAACGAAGGAGCCCCCAGGCTGTGGTTGCCCCTCAGGAAGT Direct Gain 0 0.992190898605549 NA NA prediction 0.984381797211098 Functional Gain - BCORL1 ENSG00000085185 CDS Human protein_coding chrX:129149417 chrX:129149417 nonsynonymous SNV 1.000 3 21 hm5U_associated_SNPs_3714 1 Uncertain significance not specified RCV000369096.1
349 chr4 6304142 6304142 1 + G A LUAD 6304142 - 6304122 6304162 41 GTCGAAGGCGAACTTCACGGCGCCATGCACGGTGCTGCGCC GTCGAAGGCGAACTTCACGGTGCCATGCACGGTGCTGCGCC Direct Gain 0 0.992127970723514 NA NA prediction 0.984255941447028 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6304142 chr4:6304142 nonsynonymous SNV 0.494 5 21 hm5U_associated_SNPs_3769 1 Uncertain significance not specified RCV000312654.1
349 chr10 69970095 69970095 1 + T A rs147659164 69970095 - 69970075 69970115 41 CTGGTGAGAGATCCGTAGCGACTGCCACTGGGCCGGACAGA CTGGTGAGAGATCCGTAGCGTCTGCCACTGGGCCGGACAGA Direct Gain 0 0.992107758684451 NA NA prediction 0.984215517368903 Functional Gain - MYPN ENSG00000138347 CDS Human protein_coding chr10:69970095 chr10:69970095 nonsynonymous SNV 0.999 3 21 hm5U_associated_SNPs_3794 3 Likely benign not provided RCV000172576.1
349 chr10 69970095 69970095 1 + T A rs147659164 69970095 - 69970075 69970115 41 CTGGTGAGAGATCCGTAGCGACTGCCACTGGGCCGGACAGA CTGGTGAGAGATCCGTAGCGTCTGCCACTGGGCCGGACAGA Direct Gain 0 0.992107758684451 NA NA prediction 0.984215517368903 Functional Gain - MYPN ENSG00000138347 CDS Human protein_coding chr10:69970095 chr10:69970095 nonsynonymous SNV 0.999 3 21 hm5U_associated_SNPs_3794 3 Likely benign not specified RCV000183600.3
349 chr10 69970095 69970095 1 + T A rs147659164 69970095 - 69970075 69970115 41 CTGGTGAGAGATCCGTAGCGACTGCCACTGGGCCGGACAGA CTGGTGAGAGATCCGTAGCGTCTGCCACTGGGCCGGACAGA Direct Gain 0 0.992107758684451 NA NA prediction 0.984215517368903 Functional Gain - MYPN ENSG00000138347 CDS Human protein_coding chr10:69970095 chr10:69970095 nonsynonymous SNV 0.999 3 21 hm5U_associated_SNPs_3794 3 Benign Dilated cardiomyopathy 1KK RCV000457710.1
349 chr19 39002226 39002226 1 + G A rs200797340 39002226 - 39002206 39002246 41 GAGAGAGACTCGGTGGCGGACGAGAGCAGCAAGTTTGCAGA GAGAGAGACTCGGTGGCGGATGAGAGCAGCAAGTTTGCAGA Direct Gain 0 0.992099688710903 NA NA prediction 0.984199377421805 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:39002226 chr19:39002226 nonsynonymous SNV 1.000 2 21 hm5U_associated_SNPs_3802 4 Likely benign Central core disease RCV000289050.1
349 chr19 39002226 39002226 1 + G A rs200797340 39002226 - 39002206 39002246 41 GAGAGAGACTCGGTGGCGGACGAGAGCAGCAAGTTTGCAGA GAGAGAGACTCGGTGGCGGATGAGAGCAGCAAGTTTGCAGA Direct Gain 0 0.992099688710903 NA NA prediction 0.984199377421805 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:39002226 chr19:39002226 nonsynonymous SNV 1.000 2 21 hm5U_associated_SNPs_3802 4 Likely benign Neuromuscular disease, congenital, with uniform type 1 fiber RCV000346443.1
349 chr19 39002226 39002226 1 + G A rs200797340 39002226 - 39002206 39002246 41 GAGAGAGACTCGGTGGCGGACGAGAGCAGCAAGTTTGCAGA GAGAGAGACTCGGTGGCGGATGAGAGCAGCAAGTTTGCAGA Direct Gain 0 0.992099688710903 NA NA prediction 0.984199377421805 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:39002226 chr19:39002226 nonsynonymous SNV 1.000 2 21 hm5U_associated_SNPs_3802 4 Likely benign Multiminicore Disease RCV000381209.1
349 chr19 39002226 39002226 1 + G A rs200797340 39002226 - 39002206 39002246 41 GAGAGAGACTCGGTGGCGGACGAGAGCAGCAAGTTTGCAGA GAGAGAGACTCGGTGGCGGATGAGAGCAGCAAGTTTGCAGA Direct Gain 0 0.992099688710903 NA NA prediction 0.984199377421805 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:39002226 chr19:39002226 nonsynonymous SNV 1.000 2 21 hm5U_associated_SNPs_3802 4 Likely benign Malignant hyperthermia susceptibility RCV000384648.1
349 chr13 33628239 33628239 1 + G A rs9527026 33628239 - 33628219 33628259 41 GGAGATTCCAATTGGCGGAACTTCATGTGAGGGTCCAAAAG GGAGATTCCAATTGGCGGAATTTCATGTGAGGGTCCAAAAG Direct Gain 0 0.992050353790241 NA NA prediction 0.984100707580482 Functional Gain - KL ENSG00000133116 CDS Human protein_coding chr13:33628239 chr13:33628239 synonymous SNV . 0 21 hm5U_associated_SNPs_3853 1 Likely benign Tumoral calcinosis, familial, hyperphosphatemic RCV000265097.1
349 chr19 11172893 11172893 1 + G A rs559071626 11172893 - 11172873 11172913 41 CAGTGACACTGACATACCCTCGCCGGGCCCCCGGCGAGTCT CAGTGACACTGACATACCCTTGCCGGGCCCCCGGCGAGTCT Direct Gain 0 0.991939074431174 NA NA prediction 0.983878148862349 Functional Gain - SMARCA4 ENSG00000127616 UTR3 Human protein_coding chr19:11172893 chr19:11172893 . . 0 21 hm5U_associated_SNPs_3964 1 Likely benign Coffin-Siris syndrome RCV000390663.1
349 chr5 10261737 10261737 1 + G A rs114634318 10261737 - 10261717 10261757 41 TGTACAAGACCAGCAAAGCCCAGCTTCTCGGCTGTGAGCTC TGTACAAGACCAGCAAAGCCTAGCTTCTCGGCTGTGAGCTC Direct Gain 0 0.991918693318795 NA NA prediction 0.983837386637591 Functional Gain - CCT5 ENSG00000150753 CDS Human protein_coding chr5:10261737 chr5:10261737 synonymous SNV . 0 21 hm5U_associated_SNPs_3977 1 Uncertain significance Sensory Neuropathy with Spastic Paraplegia RCV000264231.1
349 chr20 56140633 56140633 1 + G A rs148684857 56140633 - 56140613 56140653 41 GGGCGTGAGCTTGGTGCTGGCTTTTCCATCGATCCGGTTGA GGGCGTGAGCTTGGTGCTGGTTTTTCCATCGATCCGGTTGA Direct Gain 0 0.991897202716515 NA NA prediction 0.983794405433031 Functional Gain - PCK1 ENSG00000124253 CDS Human protein_coding chr20:56140633 chr20:56140633 nonsynonymous SNV 0.006 0 21 hm5U_associated_SNPs_4003 1 Uncertain significance Phosphoenolpyruvate carboxykinase (GTP) deficiency RCV000321976.1
349 chr19 50918994 50918994 1 + G A SKCM 50918994 - 50918974 50919014 41 GCTGGGCGCACTCCCGGGGTCCCGCTTCCTCATCCTGCGTG GCTGGGCGCACTCCCGGGGTTCCGCTTCCTCATCCTGCGTG Direct Gain 0 0.991856329304764 NA NA prediction 0.983712658609529 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50918994 chr19:50918994 nonsynonymous SNV 1.000 4 21 hm5U_associated_SNPs_4040 1 Uncertain significance Colorectal cancer 10 RCV000228607.1
349 chr11 17600033 17600033 1 + G A rs2355466 17600033 - 17600013 17600053 41 CGAGAGGCAGGGGCCACGGGCTGACACGCTCAGGTTCAGCA CGAGAGGCAGGGGCCACGGGTTGACACGCTCAGGTTCAGCA Direct Gain 0 0.991776282521763 NA NA prediction 0.983552565043527 Functional Gain - OTOG ENSG00000188162 CDS Human protein_coding chr11:17600033 chr11:17600033 nonsynonymous SNV 0.798 0 21 hm5U_associated_SNPs_4104 1 Benign not specified RCV000213095.1
349 chrX 18643336 18643336 1 + G A CESC 18643336 - 18643316 18643356 41 GATCTGAGATCTTCTCGGGGCGCCACTCCTTTGGTCTGCTG GATCTGAGATCTTCTCGGGGTGCCACTCCTTTGGTCTGCTG Direct Gain 0 0.991706027673792 NA NA prediction 0.983412055347584 Functional Gain - CDKL5 ENSG00000008086 CDS Human protein_coding chrX:18643336 chrX:18643336 nonsynonymous SNV 0.979 1 21 hm5U_associated_SNPs_4183 2 Uncertain significance not provided RCV000420425.1
349 chrX 18643336 18643336 1 + G A CESC 18643336 - 18643316 18643356 41 GATCTGAGATCTTCTCGGGGCGCCACTCCTTTGGTCTGCTG GATCTGAGATCTTCTCGGGGTGCCACTCCTTTGGTCTGCTG Direct Gain 0 0.991706027673792 NA NA prediction 0.983412055347584 Functional Gain - CDKL5 ENSG00000008086 CDS Human protein_coding chrX:18643336 chrX:18643336 nonsynonymous SNV 0.979 1 21 hm5U_associated_SNPs_4183 2 Uncertain significance not specified RCV000503048.1
349 chr4 186066995 186066995 1 + G A rs34486484 186066995 - 186066975 186067015 41 ACAGTGTCAAAGGGGTAGGACACCAGCCCTGCGACTGCCGT ACAGTGTCAAAGGGGTAGGATACCAGCCCTGCGACTGCCGT Direct Gain 0 0.991692538804531 NA NA prediction 0.983385077609062 Functional Gain - SLC25A4 ENSG00000151729 CDS Human protein_coding chr4:186066995 chr4:186066995 synonymous SNV . 0 21 hm5U_associated_SNPs_4202 2 Benign not specified RCV000128097.2
349 chr4 186066995 186066995 1 + G A rs34486484 186066995 - 186066975 186067015 41 ACAGTGTCAAAGGGGTAGGACACCAGCCCTGCGACTGCCGT ACAGTGTCAAAGGGGTAGGATACCAGCCCTGCGACTGCCGT Direct Gain 0 0.991692538804531 NA NA prediction 0.983385077609062 Functional Gain - SLC25A4 ENSG00000151729 CDS Human protein_coding chr4:186066995 chr4:186066995 synonymous SNV . 0 21 hm5U_associated_SNPs_4202 2 Likely benign Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions RCV000281408.1
349 chr17 40765712 40765712 1 + G A rs201417660 40765712 - 40765692 40765732 41 AAGGATGGGTTCTGGATGTGCAGGCGGTCTGTGGCAATCCG AAGGATGGGTTCTGGATGTGTAGGCGGTCTGTGGCAATCCG Direct Gain 0 0.991687786502981 NA NA prediction 0.983375573005962 Functional Gain - TUBG1 ENSG00000131462 CDS Human protein_coding chr17:40765712 chr17:40765712 synonymous SNV . 0 21 hm5U_associated_SNPs_4214 1 Likely benign not specified RCV000442709.1
349 chr1 3322142 3322142 1 + G A SKCM 3322142 - 3322122 3322162 41 GAGGACGTGGCGAAGGTCTTCCCGCAGTCGGGGCAGGCGTG GAGGACGTGGCGAAGGTCTTTCCGCAGTCGGGGCAGGCGTG Direct Gain 0 0.991686248944416 NA NA prediction 0.983372497888833 Functional Gain - PRDM16 ENSG00000142611 CDS Human protein_coding chr1:3322142 chr1:3322142 synonymous SNV . 0 21 hm5U_associated_SNPs_4216 1 Likely benign not specified RCV000219433.2
349 chr19 51295006 51295006 1 + G A HNSC 51295006 - 51294986 51295026 41 GATCGGCCTCCAGCGGGCCTCGGGGCTCCCTGGAGCAGCCT GATCGGCCTCCAGCGGGCCTTGGGGCTCCCTGGAGCAGCCT Direct Gain 0 0.991617105944309 NA NA prediction 0.983234211888617 Functional Gain - ACPT ENSG00000142513 CDS Human protein_coding chr19:51295006 chr19:51295006 nonsynonymous SNV 0.022 1 21 hm5U_associated_SNPs_4285 1 Pathogenic Amelogenesis imperfecta, type IJ RCV000415549.1
349 chr16 56913510 56913510 1 + C A rs118121751 56913510 - 56913490 56913530 41 GCCAGGGCAGAGGAGAGGGTGGCCCCGAAGATGCCAGCCGT GCCAGGGCAGAGGAGAGGGTTGCCCCGAAGATGCCAGCCGT Direct Gain 0 0.991536322744274 NA NA prediction 0.983072645488548 Functional Gain - SLC12A3 ENSG00000070915 CDS Human protein_coding chr16:56913510 chr16:56913510 synonymous SNV . 0 21 hm5U_associated_SNPs_4351 2 Benign not specified RCV000254490.1
349 chr16 56913510 56913510 1 + C A rs118121751 56913510 - 56913490 56913530 41 GCCAGGGCAGAGGAGAGGGTGGCCCCGAAGATGCCAGCCGT GCCAGGGCAGAGGAGAGGGTTGCCCCGAAGATGCCAGCCGT Direct Gain 0 0.991536322744274 NA NA prediction 0.983072645488548 Functional Gain - SLC12A3 ENSG00000070915 CDS Human protein_coding chr16:56913510 chr16:56913510 synonymous SNV . 0 21 hm5U_associated_SNPs_4351 2 Uncertain significance Familial hypokalemia-hypomagnesemia RCV000320785.1
349 chrX 136649711 136649711 1 + G A rs61735159 136649711 - 136649691 136649731 41 TTGTTCTGCTCCGGGCCCCCCACATGCTCCATGGTGACATG TTGTTCTGCTCCGGGCCCCCTACATGCTCCATGGTGACATG Direct Gain 0 0.99149752155055 NA NA prediction 0.9829950431011 Functional Gain - ZIC3 ENSG00000156925 CDS Human protein_coding chrX:136649711 chrX:136649711 synonymous SNV . 0 21 hm5U_associated_SNPs_4401 2 Benign not specified RCV000126383.2
349 chrX 136649711 136649711 1 + G A rs61735159 136649711 - 136649691 136649731 41 TTGTTCTGCTCCGGGCCCCCCACATGCTCCATGGTGACATG TTGTTCTGCTCCGGGCCCCCTACATGCTCCATGGTGACATG Direct Gain 0 0.99149752155055 NA NA prediction 0.9829950431011 Functional Gain - ZIC3 ENSG00000156925 CDS Human protein_coding chrX:136649711 chrX:136649711 synonymous SNV . 0 21 hm5U_associated_SNPs_4401 2 Benign Heterotaxy, visceral, X-linked RCV000230404.1
349 chr1 116184621 116184621 1 + C A rs191609592 116184621 - 116184601 116184641 41 CTGCGCTGGGCTCCTGGAGAGGCAGAGCCCCGCCGCCGCCG CTGCGCTGGGCTCCTGGAGATGCAGAGCCCCGCCGCCGCCG Direct Gain 0 0.991337326503588 NA NA prediction 0.982674653007176 Functional Gain - VANGL1 ENSG00000173218 UTR5 Human protein_coding chr1:116184621 chr1:116184621 . . 0 21 hm5U_associated_SNPs_4572 2 Likely benign Neural tube defect RCV000352634.1
349 chr1 116184621 116184621 1 + C A rs191609592 116184621 - 116184601 116184641 41 CTGCGCTGGGCTCCTGGAGAGGCAGAGCCCCGCCGCCGCCG CTGCGCTGGGCTCCTGGAGATGCAGAGCCCCGCCGCCGCCG Direct Gain 0 0.991337326503588 NA NA prediction 0.982674653007176 Functional Gain - VANGL1 ENSG00000173218 UTR5 Human protein_coding chr1:116184621 chr1:116184621 . . 0 21 hm5U_associated_SNPs_4572 2 Likely benign Caudal dysgenesis syndrome RCV000405114.1
349 chr12 2602513 2602513 1 + G A rs139842134 2602513 - 2602493 2602533 41 CAGCCCTCCATGGTGATGCACTGGAACACCGTGAGCATGGC CAGCCCTCCATGGTGATGCATTGGAACACCGTGAGCATGGC Direct Gain 0 0.991304237212864 NA NA prediction 0.982608474425727 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2602513 chr12:2602513 synonymous SNV . 0 21 hm5U_associated_SNPs_4606 2 Benign Long QT syndrome RCV000229663.2
349 chr12 2602513 2602513 1 + G A rs139842134 2602513 - 2602493 2602533 41 CAGCCCTCCATGGTGATGCACTGGAACACCGTGAGCATGGC CAGCCCTCCATGGTGATGCATTGGAACACCGTGAGCATGGC Direct Gain 0 0.991304237212864 NA NA prediction 0.982608474425727 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2602513 chr12:2602513 synonymous SNV . 0 21 hm5U_associated_SNPs_4606 2 Benign not specified RCV000433169.1
349 chr19 45683163 45683163 1 + G A rs142688123 45683163 - 45683143 45683183 41 GTTGGGAAGTAGAATCATGGCTAGGCCCGCGGCCCCGGGTC GTTGGGAAGTAGAATCATGGTTAGGCCCGCGGCCCCGGGTC Direct Gain 0 0.991276178512579 NA NA prediction 0.982552357025158 Functional Gain - BLOC1S3 ENSG00000189114;ENSG00000267545 CDS Human other chr19:45683163 chr19:45683163 synonymous SNV . 0 21 hm5U_associated_SNPs_4637 1 Benign not specified RCV000176017.1
349 chr12 81101854 81101854 1 + G A LUAD 81101854 - 81101834 81101874 41 GGTTGGGGTTGGCCACAGTTCGCCGCTTCAGTGCCTCGAAG GGTTGGGGTTGGCCACAGTTTGCCGCTTCAGTGCCTCGAAG Direct Gain 0 0.9912562572641 NA NA prediction 0.982512514528199 Functional Gain - MYF6 ENSG00000111046 CDS Human protein_coding chr12:81101854 chr12:81101854 nonsynonymous SNV 0.995 3 21 hm5U_associated_SNPs_4660 1 Likely pathogenic not provided RCV000484059.1
349 chr12 57963828 57963828 1 + G A rs75907338 57963828 - 57963808 57963848 41 ACAGGGGTCTCCTCACAGAGCTCGGCTCCCAGGGCTGCCTC ACAGGGGTCTCCTCACAGAGTTCGGCTCCCAGGGCTGCCTC Direct Gain 0 0.991061698052796 NA NA prediction 0.982123396105592 Functional Gain - KIF5A ENSG00000155980 CDS Human protein_coding chr12:57963828 chr12:57963828 synonymous SNV . 0 21 hm5U_associated_SNPs_4879 2 Likely benign Spastic Paraplegia, Dominant RCV000268148.1
349 chr12 57963828 57963828 1 + G A rs75907338 57963828 - 57963808 57963848 41 ACAGGGGTCTCCTCACAGAGCTCGGCTCCCAGGGCTGCCTC ACAGGGGTCTCCTCACAGAGTTCGGCTCCCAGGGCTGCCTC Direct Gain 0 0.991061698052796 NA NA prediction 0.982123396105592 Functional Gain - KIF5A ENSG00000155980 CDS Human protein_coding chr12:57963828 chr12:57963828 synonymous SNV . 0 21 hm5U_associated_SNPs_4879 2 Benign Spastic paraplegia RCV000471988.1
349 chr19 48339523 48339523 1 + G A LUSC 48339523 - 48339503 48339543 41 CCGGGTGAAGGTGGTGCGCTCCCGCCGCTGCTTCCTGGGGG CCGGGTGAAGGTGGTGCGCTTCCGCCGCTGCTTCCTGGGGG Direct Gain 0 0.990965388242146 NA NA prediction 0.981930776484292 Functional Gain - CRX ENSG00000105392 CDS Human protein_coding chr19:48339523 chr19:48339523 nonsynonymous SNV 0.997 5 21 hm5U_associated_SNPs_4971 1 Likely pathogenic Leber congenital amaurosis 7 RCV000197997.1
349 chr4 6303195 6303195 1 + G A UCEC 6303195 - 6303175 6303215 41 GGAAGTAGCCGATGGAGGCGCGGAGCAGCCCCAGGCCGGTG GGAAGTAGCCGATGGAGGCGTGGAGCAGCCCCAGGCCGGTG Direct Gain 0 0.990855971017858 NA NA prediction 0.981711942035715 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303195 chr4:6303195 nonsynonymous SNV 0.681 5 21 hm5U_associated_SNPs_5096 1 Likely pathogenic not provided RCV000489883.1
349 chr10 115341753 115341753 1 + G A rs2245056 115341753 - 115341733 115341773 41 GGGTGCTTGCCCGCCGTGCTCTTAAAGCCTCCATAGATTCT GGGTGCTTGCCCGCCGTGCTTTTAAAGCCTCCATAGATTCT Direct Gain 0 0.990786690686921 NA NA prediction 0.981573381373841 Functional Gain - HABP2 ENSG00000148702 CDS Human protein_coding chr10:115341753 chr10:115341753 synonymous SNV . 0 21 hm5U_associated_SNPs_5187 1 Likely benign Factor VII Marburg I Variant Thrombophilia RCV000309209.1
349 chr12 124387574 124387574 1 + G A rs58411567 124387574 - 124387554 124387594 41 ATGACCTCTGCCAGGGTCGTCTCGGCCTCGGCCTTCTCCAT ATGACCTCTGCCAGGGTCGTTTCGGCCTCGGCCTTCTCCAT Direct Gain 0 0.990769279959179 NA NA prediction 0.981538559918359 Functional Gain - DNAH10 ENSG00000197653 CDS Human protein_coding chr12:124387574 chr12:124387574 synonymous SNV . 0 21 hm5U_associated_SNPs_5204 1 Benign not specified RCV000455542.1
349 chr12 2721075 2721075 1 + G A COAD 2721075 - 2721055 2721095 41 TTTGAACAGGCAGCTCTGGCCGTAGTGCTGCATCAGGAGAG TTTGAACAGGCAGCTCTGGCTGTAGTGCTGCATCAGGAGAG Direct Gain 0 0.990687479673139 NA NA prediction 0.981374959346278 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2721075 chr12:2721075 nonsynonymous SNV 0.992 4 21 hm5U_associated_SNPs_5282 1 Uncertain significance not specified RCV000494509.1
349 chr1 23233346 23233346 1 + G A rs28936395 23233346 - 23233326 23233366 41 GTGGATGACGTTGGGATGGTCGAACTGGCCCATGATGGAGG GTGGATGACGTTGGGATGGTTGAACTGGCCCATGATGGAGG Direct Gain 0 0.990631383359281 NA NA prediction 0.981262766718562 Functional Gain - EPHB2 ENSG00000133216 CDS Human protein_coding chr1:23233346 chr1:23233346 nonsynonymous SNV 0.993 4 21 hm5U_associated_SNPs_5357 1 Pathogenic Prostate cancer/brain cancer susceptibility RCV000009060.5
349 chr11 17656420 17656420 1 + G A rs548278514 17656420 - 17656400 17656440 41 GCCTGGGCGGCATGTGGGGGCGAGACCCTCACACAGAGTCT GCCTGGGCGGCATGTGGGGGTGAGACCCTCACACAGAGTCT Direct Gain 0 0.990599949516129 NA NA prediction 0.981199899032257 Functional Gain - OTOG ENSG00000188162 CDS Human protein_coding chr11:17656420 chr11:17656420 nonsynonymous SNV 0.998 0 21 hm5U_associated_SNPs_5384 1 Likely benign not specified RCV000221973.1
349 chr9 130980937 130980937 1 + G A rs2229917 130980937 - 130980917 130980957 41 GTGCCGGTGACCCTGTCGGTCTCGGCCTCGATCTCAAGGCG GTGCCGGTGACCCTGTCGGTTTCGGCCTCGATCTCAAGGCG Direct Gain 0 0.990572137875532 NA NA prediction 0.981144275751064 Functional Gain - DNM1 ENSG00000106976 CDS Human protein_coding chr9:130980937 chr9:130980937 synonymous SNV . 0 21 hm5U_associated_SNPs_5419 1 Benign not specified RCV000439734.1
349 chr6 50786571 50786571 1 + G A rs2272903 50786571 - 50786551 50786591 41 AGATGTCTGGCTTCTCAGGACTCCGCTGTCTGTAATGATCC AGATGTCTGGCTTCTCAGGATTCCGCTGTCTGTAATGATCC Direct Gain 0 0.990513692140792 NA NA prediction 0.981027384281584 Functional Gain - TFAP2B ENSG00000008196 UTR5 Human protein_coding chr6:50786571 chr6:50786571 . . 0 21 hm5U_associated_SNPs_5471 1 Benign Char syndrome RCV000396444.1
349 chr12 5603606 5603606 1 + G A rs540320780 5603606 - 5603586 5603626 41 GAATGCTGACTTGGCGGGCCCTCCCCGCTCCGGCTCTCGGG GAATGCTGACTTGGCGGGCCTTCCCCGCTCCGGCTCTCGGG Direct Gain 0 0.990511087553944 NA NA prediction 0.981022175107889 Functional Gain - NTF3 ENSG00000185652 CDS Human protein_coding chr12:5603606 chr12:5603606 nonsynonymous SNV 0.229 0 21 hm5U_associated_SNPs_5473 1 Uncertain significance Hirschsprung disease 1 RCV000201299.1
349 chr7 95668664 95668664 1 + C A rs1048666 95668664 - 95668644 95668684 41 AGGTGAGAAAAGTCGATTGGGCCCACTGCCATGTGGCAGTT AGGTGAGAAAAGTCGATTGGTCCCACTGCCATGTGGCAGTT Direct Gain 0 0.990429151583323 NA NA prediction 0.980858303166646 Functional Gain - DYNC1I1 ENSG00000158560 CDS Human protein_coding chr7:95668664 chr7:95668664 synonymous SNV . 0 21 hm5U_associated_SNPs_5568 1 Benign not specified RCV000455384.1
349 chr10 112404343 112404343 1 + C A rs563500712 112404343 - 112404323 112404363 41 GTGGCTGGGGCGGCGGCGGCGGCTGCTGCATCCCTCGCGGG GTGGCTGGGGCGGCGGCGGCTGCTGCTGCATCCCTCGCGGG Direct Gain 0 0.990346376512613 NA NA prediction 0.980692753025225 Functional Gain - RBM20 ENSG00000203867 CDS Human protein_coding chr10:112404343 chr10:112404343 nonsynonymous SNV 0.185 1 21 hm5U_associated_SNPs_5672 1 other not specified RCV000151725.2
349 chr12 100795601 100795601 1 + G A rs11568545 100795601 - 100795581 100795621 41 GACCATCCAATGTACTGCACCAACACCCCAGCCAGGGGCAT GACCATCCAATGTACTGCACTAACACCCCAGCCAGGGGCAT Direct Gain 0 0.990291208064997 NA NA prediction 0.980582416129993 Functional Gain - SLC17A8 ENSG00000179520 CDS Human protein_coding chr12:100795601 chr12:100795601 synonymous SNV . 0 21 hm5U_associated_SNPs_5736 1 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000387621.1
349 chr9 140051376 140051376 1 + G A rs1126442 140051376 - 140051356 140051396 41 ACGGCCTGGGCCACCACGCCCACGGCGTCGCTGATGTGGGC ACGGCCTGGGCCACCACGCCTACGGCGTCGCTGATGTGGGC Direct Gain 0 0.990255824472133 NA NA prediction 0.980511648944266 Functional Gain - GRIN1 ENSG00000176884 CDS Human protein_coding chr9:140051376 chr9:140051376 synonymous SNV . 0 21 hm5U_associated_SNPs_5773 1 other not specified RCV000117172.3
349 chr2 166245256 166245256 1 + G A UCEC 166245256 - 166245236 166245276 41 TCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTG TCAAAGCAAAGAGCAGCGTGTGGATCCCCTTTGCTCCTTTG Direct Gain 0 0.990236255011383 NA NA prediction 0.980472510022766 Functional Gain - SCN2A ENSG00000136531 CDS Human protein_coding chr2:166245256 chr2:166245256 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_5791 1 Uncertain significance Inborn genetic diseases RCV000190766.1
349 chr7 147914562 147914562 1 + C A rs146225600 147914562 - 147914542 147914582 41 GGTGAAGGAGCTGATGTAGAGGAGAATGCAGGGCGCCTTGG GGTGAAGGAGCTGATGTAGATGAGAATGCAGGGCGCCTTGG Direct Gain 0 0.990025187088197 NA NA prediction 0.980050374176395 Functional Gain - CNTNAP2 ENSG00000174469 CDS Human protein_coding chr7:147914562 chr7:147914562 nonsynonymous SNV 0.997 3 21 hm5U_associated_SNPs_6092 2 Uncertain significance not provided RCV000116781.1
349 chr7 147914562 147914562 1 + C A rs146225600 147914562 - 147914542 147914582 41 GGTGAAGGAGCTGATGTAGAGGAGAATGCAGGGCGCCTTGG GGTGAAGGAGCTGATGTAGATGAGAATGCAGGGCGCCTTGG Direct Gain 0 0.990025187088197 NA NA prediction 0.980050374176395 Functional Gain - CNTNAP2 ENSG00000174469 CDS Human protein_coding chr7:147914562 chr7:147914562 nonsynonymous SNV 0.997 3 21 hm5U_associated_SNPs_6092 2 Uncertain significance not specified RCV000187159.4
349 chr3 50229241 50229241 1 + G A COAD 50229241 - 50229221 50229261 41 GAAGCAGCAGCTTCACGGTTCGAGCATCCTTCTCAGCGTCC GAAGCAGCAGCTTCACGGTTTGAGCATCCTTCTCAGCGTCC Direct Gain 0 0.989898576851479 NA NA prediction 0.979797153702958 Functional Gain - GNAT1 ENSG00000114349 CDS Human protein_coding chr3:50229241 chr3:50229241 nonsynonymous SNV 0.997 3 21 hm5U_associated_SNPs_6242 1 Likely benign Congenital Stationary Night Blindness, Dominant RCV000259457.1
349 chr10 112572077 112572077 1 + G A rs143785916 112572077 - 112572057 112572097 41 GGGACCTCGGGGAGAGTGACCGGCTCACCGGACTACGAGAC GGGACCTCGGGGAGAGTGACTGGCTCACCGGACTACGAGAC Direct Gain 0 0.989894644690026 NA NA prediction 0.979789289380052 Functional Gain - RBM20 ENSG00000203867 CDS Human protein_coding chr10:112572077 chr10:112572077 nonsynonymous SNV 0.982 4 21 hm5U_associated_SNPs_6246 1 Uncertain significance Dilated cardiomyopathy 1DD RCV000477478.1
349 chr16 2546489 2546489 1 + G A COAD 2546489 - 2546469 2546509 41 GCACAGGAGGATCTTGCGCACGGCCCCCTCGCCGCGTGCAT GCACAGGAGGATCTTGCGCATGGCCCCCTCGCCGCGTGCAT Direct Gain 0 0.989858016074934 NA NA prediction 0.979716032149868 Functional Gain - TBC1D24 ENSG00000162065;ENSG00000260272 CDS Human other chr16:2546489 chr16:2546489 nonsynonymous SNV 0.837 4 21 hm5U_associated_SNPs_6300 1 Uncertain significance not specified RCV000189681.1
349 chr19 7707369 7707369 1 + G A rs34450592 7707369 - 7707349 7707389 41 TCCACCCACAAGTCATCGTCCTCGTCCAGCAAGACGGCCTT TCCACCCACAAGTCATCGTCTTCGTCCAGCAAGACGGCCTT Direct Gain 0 0.989856846156561 NA NA prediction 0.979713692313123 Functional Gain - STXBP2 ENSG00000076944 CDS Human protein_coding chr19:7707369 chr19:7707369 synonymous SNV . 0 21 hm5U_associated_SNPs_6301 2 Benign not specified RCV000248506.1
349 chr19 7707369 7707369 1 + G A rs34450592 7707369 - 7707349 7707389 41 TCCACCCACAAGTCATCGTCCTCGTCCAGCAAGACGGCCTT TCCACCCACAAGTCATCGTCTTCGTCCAGCAAGACGGCCTT Direct Gain 0 0.989856846156561 NA NA prediction 0.979713692313123 Functional Gain - STXBP2 ENSG00000076944 CDS Human protein_coding chr19:7707369 chr19:7707369 synonymous SNV . 0 21 hm5U_associated_SNPs_6301 2 Uncertain significance Familial hemophagocytic lymphohistiocytosis RCV000375641.1
349 chr9 138669261 138669261 1 + G A rs914428 138669261 - 138669241 138669281 41 TTGTACAGCCCATTGCCGGCCGTCTCTGCCGAGACGATGAT TTGTACAGCCCATTGCCGGCTGTCTCTGCCGAGACGATGAT Direct Gain 0 0.989814107804233 NA NA prediction 0.979628215608466 Functional Gain - KCNT1 ENSG00000107147 CDS Human protein_coding chr9:138669261 chr9:138669261 synonymous SNV . 0 21 hm5U_associated_SNPs_6361 1 other not specified RCV000117363.4
349 chr14 76045858 76045858 1 + G A rs2287016 76045858 - 76045838 76045878 41 GAGCAGATGAGCTGGCCCACCACGGTGACCGGAAAGAGATG GAGCAGATGAGCTGGCCCACTACGGTGACCGGAAAGAGATG Direct Gain 0 0.989727602230197 NA NA prediction 0.979455204460393 Functional Gain - FLVCR2 ENSG00000119686 CDS Human protein_coding chr14:76045858 chr14:76045858 synonymous SNV . 0 21 hm5U_associated_SNPs_6475 2 Benign not specified RCV000081865.4
349 chr14 76045858 76045858 1 + G A rs2287016 76045858 - 76045838 76045878 41 GAGCAGATGAGCTGGCCCACCACGGTGACCGGAAAGAGATG GAGCAGATGAGCTGGCCCACTACGGTGACCGGAAAGAGATG Direct Gain 0 0.989727602230197 NA NA prediction 0.979455204460393 Functional Gain - FLVCR2 ENSG00000119686 CDS Human protein_coding chr14:76045858 chr14:76045858 synonymous SNV . 0 21 hm5U_associated_SNPs_6475 2 Benign Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome RCV000373082.1
349 chr16 89985984 89985984 1 + G A rs3212364 89985984 - 89985964 89986004 41 AGCACCGCAGCCCGGGCCACCAGTGCACCGGCCTCCAGCAG AGCACCGCAGCCCGGGCCACTAGTGCACCGGCCTCCAGCAG Direct Gain 0 0.989696460425566 NA NA prediction 0.979392920851132 Functional Gain - MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985984 chr16:89985984 synonymous SNV . 0 21 hm5U_associated_SNPs_6526 2 Likely benign Malignant Melanoma Susceptibility RCV000378393.1
349 chr16 89985984 89985984 1 + G A rs3212364 89985984 - 89985964 89986004 41 AGCACCGCAGCCCGGGCCACCAGTGCACCGGCCTCCAGCAG AGCACCGCAGCCCGGGCCACTAGTGCACCGGCCTCCAGCAG Direct Gain 0 0.989696460425566 NA NA prediction 0.979392920851132 Functional Gain - MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985984 chr16:89985984 synonymous SNV . 0 21 hm5U_associated_SNPs_6526 2 Benign Cutaneous malignant melanoma 5 RCV000475378.1
349 chr1 237713941 237713941 1 + G A STAD 237713941 - 237713921 237713961 41 AGCCGTACCCCAGCAGCGTGCGCACAGCCTCGCGGAGGCTG AGCCGTACCCCAGCAGCGTGTGCACAGCCTCGCGGAGGCTG Direct Gain 0 0.989621583343289 NA NA prediction 0.979243166686578 Functional Gain - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237713941 chr1:237713941 nonsynonymous SNV 0.344 3 21 hm5U_associated_SNPs_6625 1 Uncertain significance not specified RCV000182710.1
349 chr10 73574912 73574912 1 + G A PRAD 73574912 - 73574892 73574932 41 GTGGCCTCGGCAGCGGTCAGCGTCTCCAGCGAGCGGCCCAG GTGGCCTCGGCAGCGGTCAGTGTCTCCAGCGAGCGGCCCAG Direct Gain 0 0.989547594485351 NA NA prediction 0.979095188970703 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73574912 chr10:73574912 synonymous SNV . 0 21 hm5U_associated_SNPs_6722 7 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000260328.1
349 chr10 73574912 73574912 1 + G A PRAD 73574912 - 73574892 73574932 41 GTGGCCTCGGCAGCGGTCAGCGTCTCCAGCGAGCGGCCCAG GTGGCCTCGGCAGCGGTCAGTGTCTCCAGCGAGCGGCCCAG Direct Gain 0 0.989547594485351 NA NA prediction 0.979095188970703 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73574912 chr10:73574912 synonymous SNV . 0 21 hm5U_associated_SNPs_6722 7 Likely benign Combined saposin deficiency RCV000266027.1
349 chr10 73574912 73574912 1 + G A PRAD 73574912 - 73574892 73574932 41 GTGGCCTCGGCAGCGGTCAGCGTCTCCAGCGAGCGGCCCAG GTGGCCTCGGCAGCGGTCAGTGTCTCCAGCGAGCGGCCCAG Direct Gain 0 0.989547594485351 NA NA prediction 0.979095188970703 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73574912 chr10:73574912 synonymous SNV . 0 21 hm5U_associated_SNPs_6722 7 Likely benign Metachromatic leukodystrophy RCV000279075.1
349 chr10 73574912 73574912 1 + G A PRAD 73574912 - 73574892 73574932 41 GTGGCCTCGGCAGCGGTCAGCGTCTCCAGCGAGCGGCCCAG GTGGCCTCGGCAGCGGTCAGTGTCTCCAGCGAGCGGCCCAG Direct Gain 0 0.989547594485351 NA NA prediction 0.979095188970703 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73574912 chr10:73574912 synonymous SNV . 0 21 hm5U_associated_SNPs_6722 7 Likely benign Atypical Gaucher Disease RCV000319045.1
349 chr10 73574912 73574912 1 + G A PRAD 73574912 - 73574892 73574932 41 GTGGCCTCGGCAGCGGTCAGCGTCTCCAGCGAGCGGCCCAG GTGGCCTCGGCAGCGGTCAGTGTCTCCAGCGAGCGGCCCAG Direct Gain 0 0.989547594485351 NA NA prediction 0.979095188970703 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73574912 chr10:73574912 synonymous SNV . 0 21 hm5U_associated_SNPs_6722 7 Uncertain significance CDH23-Related Disorders RCV000324392.1
349 chr10 73574912 73574912 1 + G A PRAD 73574912 - 73574892 73574932 41 GTGGCCTCGGCAGCGGTCAGCGTCTCCAGCGAGCGGCCCAG GTGGCCTCGGCAGCGGTCAGTGTCTCCAGCGAGCGGCCCAG Direct Gain 0 0.989547594485351 NA NA prediction 0.979095188970703 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73574912 chr10:73574912 synonymous SNV . 0 21 hm5U_associated_SNPs_6722 7 Likely benign Galactosylceramide beta-galactosidase deficiency RCV000375963.1
349 chr10 73574912 73574912 1 + G A PRAD 73574912 - 73574892 73574932 41 GTGGCCTCGGCAGCGGTCAGCGTCTCCAGCGAGCGGCCCAG GTGGCCTCGGCAGCGGTCAGTGTCTCCAGCGAGCGGCCCAG Direct Gain 0 0.989547594485351 NA NA prediction 0.979095188970703 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73574912 chr10:73574912 synonymous SNV . 0 21 hm5U_associated_SNPs_6722 7 Uncertain significance Retinitis pigmentosa-deafness syndrome RCV000378954.1
349 chr9 2718351 2718351 1 + G A rs186159326 2718351 - 2718331 2718371 41 CTCAGCTCGTCGCGCCGCTCCTCGAAGCAGATGCGGCAGCA CTCAGCTCGTCGCGCCGCTCTTCGAAGCAGATGCGGCAGCA Direct Gain 0 0.989434225040563 NA NA prediction 0.978868450081125 Functional Gain - KCNV2 ENSG00000168263 CDS Human protein_coding chr9:2718351 chr9:2718351 synonymous SNV . 0 21 hm5U_associated_SNPs_6872 2 Benign not specified RCV000153395.3
349 chr9 2718351 2718351 1 + G A rs186159326 2718351 - 2718331 2718371 41 CTCAGCTCGTCGCGCCGCTCCTCGAAGCAGATGCGGCAGCA CTCAGCTCGTCGCGCCGCTCTTCGAAGCAGATGCGGCAGCA Direct Gain 0 0.989434225040563 NA NA prediction 0.978868450081125 Functional Gain - KCNV2 ENSG00000168263 CDS Human protein_coding chr9:2718351 chr9:2718351 synonymous SNV . 0 21 hm5U_associated_SNPs_6872 2 Likely benign Cone dystrophy 3 RCV000341834.1
349 chr7 148080940 148080940 1 + G A rs142331907 148080940 - 148080920 148080960 41 TGCCAGGGGTCGGTGGCGGACGACATGGGGGAGAGGGTCAG TGCCAGGGGTCGGTGGCGGATGACATGGGGGAGAGGGTCAG Direct Gain 0 0.989411607659225 NA NA prediction 0.97882321531845 Functional Gain - CNTNAP2 ENSG00000174469 CDS Human protein_coding chr7:148080940 chr7:148080940 synonymous SNV . 0 21 hm5U_associated_SNPs_6906 2 other not specified RCV000124383.4
349 chr7 148080940 148080940 1 + G A rs142331907 148080940 - 148080920 148080960 41 TGCCAGGGGTCGGTGGCGGACGACATGGGGGAGAGGGTCAG TGCCAGGGGTCGGTGGCGGATGACATGGGGGAGAGGGTCAG Direct Gain 0 0.989411607659225 NA NA prediction 0.97882321531845 Functional Gain - CNTNAP2 ENSG00000174469 CDS Human protein_coding chr7:148080940 chr7:148080940 synonymous SNV . 0 21 hm5U_associated_SNPs_6906 2 Benign Cortical dysplasia-focal epilepsy syndrome RCV000469790.1
349 chr11 120998994 120998994 1 + C A LUSC 120998994 - 120998974 120999014 41 CTGGTCGGCCACCAGGATCCGAAGTCCCCGCAGCCAAGCAG CTGGTCGGCCACCAGGATCCTAAGTCCCCGCAGCCAAGCAG Direct Gain 0 0.989302456878333 NA NA prediction 0.978604913756667 Functional Gain - TECTA ENSG00000109927 CDS Human protein_coding chr11:120998994 chr11:120998994 synonymous SNV . 0 21 hm5U_associated_SNPs_7045 1 Likely benign not specified RCV000151974.1
349 chr10 50854637 50854637 1 + G A rs8178991 50854637 - 50854617 50854657 41 CTGGAGTGCCCTGTGGGTGTCGCTGAGCTCCACGCCTCCTG CTGGAGTGCCCTGTGGGTGTTGCTGAGCTCCACGCCTCCTG Direct Gain 0 0.989285349112242 NA NA prediction 0.978570698224483 Functional Gain - CHAT ENSG00000070748 CDS Human protein_coding chr10:50854637 chr10:50854637 nonsynonymous SNV 0.470 2 21 hm5U_associated_SNPs_7071 1 other not specified RCV000116690.4
349 chr19 19627092 19627092 1 + C A rs183288709 19627092 - 19627072 19627112 41 TTGTAGTCGATGGGCCCATAGCCCCCCGGCGGAGGCATGTC TTGTAGTCGATGGGCCCATATCCCCCCGGCGGAGGCATGTC Direct Gain 0 0.989243282086561 NA NA prediction 0.978486564173121 Functional Gain - NDUFA13 ENSG00000186010;ENSG00000250067;ENSG00000258674 CDS Human other chr19:19627092 chr19:19627092 synonymous SNV . 0 21 hm5U_associated_SNPs_7132 1 Uncertain significance not specified RCV000299323.1
349 chr15 72104306 72104306 1 + G A rs146403122 72104306 - 72104286 72104326 41 TGTGCTTCGCGGCTGGCGCTCGTTCTGCACGGCTGGGGAGG TGTGCTTCGCGGCTGGCGCTTGTTCTGCACGGCTGGGGAGG Direct Gain 0 0.989150214091173 NA NA prediction 0.978300428182346 Functional Gain - NR2E3 ENSG00000031544 ncRNA_exonic Human other chr15:72104306 chr15:72104306 . 0.969 3 21 hm5U_associated_SNPs_7268 1 Likely benign not provided RCV000132671.1
349 chr1 237608771 237608771 1 + G A BRCA 237608771 - 237608751 237608791 41 TCCGGATAACTCGGGCTGTGCGTGATTCTTCATGCTGGGAT TCCGGATAACTCGGGCTGTGTGTGATTCTTCATGCTGGGAT Direct Gain 0 0.989021877491699 NA NA prediction 0.978043754983398 Functional Gain - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237608771 chr1:237608771 nonsynonymous SNV 0.534 2 21 hm5U_associated_SNPs_7444 1 Uncertain significance not specified RCV000498281.1
349 chr3 121980455 121980455 1 + G A rs141631116 121980455 - 121980435 121980475 41 GCCATGGCAGTGGCCTGGTGCTCATCATTGGGGATGGTTCG GCCATGGCAGTGGCCTGGTGTTCATCATTGGGGATGGTTCG Direct Gain 0 0.988961258049362 NA NA prediction 0.977922516098723 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:121980455 chr3:121980455 synonymous SNV . 0 21 hm5U_associated_SNPs_7540 6 Benign Hypocalcemia, autosomal dominant 1 RCV000229524.2
349 chr3 121980455 121980455 1 + G A rs141631116 121980455 - 121980435 121980475 41 GCCATGGCAGTGGCCTGGTGCTCATCATTGGGGATGGTTCG GCCATGGCAGTGGCCTGGTGTTCATCATTGGGGATGGTTCG Direct Gain 0 0.988961258049362 NA NA prediction 0.977922516098723 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:121980455 chr3:121980455 synonymous SNV . 0 21 hm5U_associated_SNPs_7540 6 Benign Hypocalciuric hypercalcemia, familial, type 1 RCV000229524.2
349 chr3 121980455 121980455 1 + G A rs141631116 121980455 - 121980435 121980475 41 GCCATGGCAGTGGCCTGGTGCTCATCATTGGGGATGGTTCG GCCATGGCAGTGGCCTGGTGTTCATCATTGGGGATGGTTCG Direct Gain 0 0.988961258049362 NA NA prediction 0.977922516098723 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:121980455 chr3:121980455 synonymous SNV . 0 21 hm5U_associated_SNPs_7540 6 Likely benign Familial hypocalciuric hypercalcemia RCV000261016.1
349 chr3 121980455 121980455 1 + G A rs141631116 121980455 - 121980435 121980475 41 GCCATGGCAGTGGCCTGGTGCTCATCATTGGGGATGGTTCG GCCATGGCAGTGGCCTGGTGTTCATCATTGGGGATGGTTCG Direct Gain 0 0.988961258049362 NA NA prediction 0.977922516098723 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:121980455 chr3:121980455 synonymous SNV . 0 21 hm5U_associated_SNPs_7540 6 Likely benign Hypocalcemia RCV000273897.1
349 chr3 121980455 121980455 1 + G A rs141631116 121980455 - 121980435 121980475 41 GCCATGGCAGTGGCCTGGTGCTCATCATTGGGGATGGTTCG GCCATGGCAGTGGCCTGGTGTTCATCATTGGGGATGGTTCG Direct Gain 0 0.988961258049362 NA NA prediction 0.977922516098723 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:121980455 chr3:121980455 synonymous SNV . 0 21 hm5U_associated_SNPs_7540 6 Likely benign Hypoparathyroidism familial isolated RCV000318421.1
349 chr3 121980455 121980455 1 + G A rs141631116 121980455 - 121980435 121980475 41 GCCATGGCAGTGGCCTGGTGCTCATCATTGGGGATGGTTCG GCCATGGCAGTGGCCTGGTGTTCATCATTGGGGATGGTTCG Direct Gain 0 0.988961258049362 NA NA prediction 0.977922516098723 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:121980455 chr3:121980455 synonymous SNV . 0 21 hm5U_associated_SNPs_7540 6 Likely benign Neonatal severe hyperparathyroidism RCV000356907.1
349 chr10 69881855 69881855 1 + G A rs372218308 69881855 - 69881835 69881875 41 GCGTGATTCACTTCATTATCCCTGGTATCCGCAGGGATAGG GCGTGATTCACTTCATTATCTCTGGTATCCGCAGGGATAGG Direct Gain 0 0.988958797966293 NA NA prediction 0.977917595932586 Functional Gain - MYPN ENSG00000138347 CDS Human protein_coding chr10:69881855 chr10:69881855 synonymous SNV . 0 21 hm5U_associated_SNPs_7545 2 Likely benign not specified RCV000441614.1
349 chr10 69881855 69881855 1 + G A rs372218308 69881855 - 69881835 69881875 41 GCGTGATTCACTTCATTATCCCTGGTATCCGCAGGGATAGG GCGTGATTCACTTCATTATCTCTGGTATCCGCAGGGATAGG Direct Gain 0 0.988958797966293 NA NA prediction 0.977917595932586 Functional Gain - MYPN ENSG00000138347 CDS Human protein_coding chr10:69881855 chr10:69881855 synonymous SNV . 0 21 hm5U_associated_SNPs_7545 2 Benign Dilated cardiomyopathy 1KK RCV000473589.1
349 chr10 73501556 73501556 1 + G A rs1227051 73501556 - 73501536 73501576 41 GATGCGGTCCATGCGGAAGGCCATGTCCTTGTTGCCCTCGG GATGCGGTCCATGCGGAAGGTCATGTCCTTGTTGCCCTCGG Direct Gain 0 0.98893205972157 NA NA prediction 0.97786411944314 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73501556 chr10:73501556 nonsynonymous SNV 0.994 0 21 hm5U_associated_SNPs_7582 4 Benign,Benign not specified,not specified RCV000154337.1,RCV000039189.3
349 chr10 73501556 73501556 1 + G A rs1227051 73501556 - 73501536 73501576 41 GATGCGGTCCATGCGGAAGGCCATGTCCTTGTTGCCCTCGG GATGCGGTCCATGCGGAAGGTCATGTCCTTGTTGCCCTCGG Direct Gain 0 0.98893205972157 NA NA prediction 0.97786411944314 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73501556 chr10:73501556 nonsynonymous SNV 0.994 0 21 hm5U_associated_SNPs_7582 4 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000275255.1
349 chr10 73501556 73501556 1 + G A rs1227051 73501556 - 73501536 73501576 41 GATGCGGTCCATGCGGAAGGCCATGTCCTTGTTGCCCTCGG GATGCGGTCCATGCGGAAGGTCATGTCCTTGTTGCCCTCGG Direct Gain 0 0.98893205972157 NA NA prediction 0.97786411944314 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73501556 chr10:73501556 nonsynonymous SNV 0.994 0 21 hm5U_associated_SNPs_7582 4 Likely benign Retinitis pigmentosa-deafness syndrome RCV000328065.1
349 chr6 45390511 45390511 1 + G A rs6921145 45390511 - 45390491 45390531 41 GCCGCCGCCGCAGCCGCCGCCGCCGCCGCAGCCGCCGCCGC GCCGCCGCCGCAGCCGCCGCTGCCGCCGCAGCCGCCGCCGC Direct Gain 0 0.988892018765089 NA NA prediction 0.977784037530179 Functional Gain - RUNX2 ENSG00000124813 CDS Human protein_coding chr6:45390511 chr6:45390511 synonymous SNV . 0 21 hm5U_associated_SNPs_7645 2 Benign not specified RCV000177104.2
349 chr6 45390511 45390511 1 + G A rs6921145 45390511 - 45390491 45390531 41 GCCGCCGCCGCAGCCGCCGCCGCCGCCGCAGCCGCCGCCGC GCCGCCGCCGCAGCCGCCGCTGCCGCCGCAGCCGCCGCCGC Direct Gain 0 0.988892018765089 NA NA prediction 0.977784037530179 Functional Gain - RUNX2 ENSG00000124813 CDS Human protein_coding chr6:45390511 chr6:45390511 synonymous SNV . 0 21 hm5U_associated_SNPs_7645 2 Benign Cleidocranial dysostosis RCV000332766.1
349 chr5 156074481 156074481 1 + G A rs368838376 156074481 - 156074461 156074501 41 GATTTAGGGAACACTGTGCCCTCCGCTCCTGTAAACAAAAC GATTTAGGGAACACTGTGCCTTCCGCTCCTGTAAACAAAAC Direct Gain 0 0.98881529039604 NA NA prediction 0.977630580792079 Functional Gain - SGCD ENSG00000170624 CDS Human protein_coding chr5:156074481 chr5:156074481 synonymous SNV . 0 21 hm5U_associated_SNPs_7752 4 Likely benign Limb-Girdle Muscular Dystrophy, Recessive RCV000282447.1
349 chr5 156074481 156074481 1 + G A rs368838376 156074481 - 156074461 156074501 41 GATTTAGGGAACACTGTGCCCTCCGCTCCTGTAAACAAAAC GATTTAGGGAACACTGTGCCTTCCGCTCCTGTAAACAAAAC Direct Gain 0 0.98881529039604 NA NA prediction 0.977630580792079 Functional Gain - SGCD ENSG00000170624 CDS Human protein_coding chr5:156074481 chr5:156074481 synonymous SNV . 0 21 hm5U_associated_SNPs_7752 4 Likely benign Dilated Cardiomyopathy, Dominant RCV000349109.1
349 chr5 156074481 156074481 1 + G A rs368838376 156074481 - 156074461 156074501 41 GATTTAGGGAACACTGTGCCCTCCGCTCCTGTAAACAAAAC GATTTAGGGAACACTGTGCCTTCCGCTCCTGTAAACAAAAC Direct Gain 0 0.98881529039604 NA NA prediction 0.977630580792079 Functional Gain - SGCD ENSG00000170624 CDS Human protein_coding chr5:156074481 chr5:156074481 synonymous SNV . 0 21 hm5U_associated_SNPs_7752 4 Likely benign Delta-sarcoglycanopathy RCV000392260.1
349 chr5 156074481 156074481 1 + G A rs368838376 156074481 - 156074461 156074501 41 GATTTAGGGAACACTGTGCCCTCCGCTCCTGTAAACAAAAC GATTTAGGGAACACTGTGCCTTCCGCTCCTGTAAACAAAAC Direct Gain 0 0.98881529039604 NA NA prediction 0.977630580792079 Functional Gain - SGCD ENSG00000170624 CDS Human protein_coding chr5:156074481 chr5:156074481 synonymous SNV . 0 21 hm5U_associated_SNPs_7752 4 Benign not specified RCV000424458.1
349 chr3 46939406 46939406 1 + G A rs138339848 46939406 - 46939386 46939426 41 GGACAGGGCACAGCCACCACCTCACCTGGTGCCCCCAGCGG GGACAGGGCACAGCCACCACTTCACCTGGTGCCCCCAGCGG Direct Gain 0 0.988774216105838 NA NA prediction 0.977548432211675 Functional Gain - PTH1R ENSG00000160801 CDS Human protein_coding chr3:46939406 chr3:46939406 synonymous SNV . 0 21 hm5U_associated_SNPs_7819 2 Likely benign Chondrodysplasia RCV000279487.1
349 chr3 46939406 46939406 1 + G A rs138339848 46939406 - 46939386 46939426 41 GGACAGGGCACAGCCACCACCTCACCTGGTGCCCCCAGCGG GGACAGGGCACAGCCACCACTTCACCTGGTGCCCCCAGCGG Direct Gain 0 0.988774216105838 NA NA prediction 0.977548432211675 Functional Gain - PTH1R ENSG00000160801 CDS Human protein_coding chr3:46939406 chr3:46939406 synonymous SNV . 0 21 hm5U_associated_SNPs_7819 2 Likely benign Metaphyseal chondrodysplasia RCV000334562.1
349 chr17 48243394 48243394 1 + G A rs149296410 48243394 - 48243374 48243414 41 GTGTCTCAGCCATGGCTGCCCGGCCTGGCCCGCCCGGTGAG GTGTCTCAGCCATGGCTGCCTGGCCTGGCCCGCCCGGTGAG Direct Gain 0 0.988636764261866 NA NA prediction 0.977273528523732 Functional Gain - SGCA ENSG00000108823 UTR5 Human protein_coding chr17:48243394 chr17:48243394 . . 0 21 hm5U_associated_SNPs_8035 2 Likely benign Limb-girdle muscular dystrophy, type 2D RCV000293268.1
349 chr17 48243394 48243394 1 + G A rs149296410 48243394 - 48243374 48243414 41 GTGTCTCAGCCATGGCTGCCCGGCCTGGCCCGCCCGGTGAG GTGTCTCAGCCATGGCTGCCTGGCCTGGCCCGCCCGGTGAG Direct Gain 0 0.988636764261866 NA NA prediction 0.977273528523732 Functional Gain - SGCA ENSG00000108823 UTR5 Human protein_coding chr17:48243394 chr17:48243394 . . 0 21 hm5U_associated_SNPs_8035 2 Benign not specified RCV000359009.2
349 chr19 38964352 38964352 1 + G A COAD 38964352 - 38964332 38964372 41 TTCTCCGCCCTGGCGGGCTGCGCCTCTCCCCCCGCCTGCGG TTCTCCGCCCTGGCGGGCTGTGCCTCTCCCCCCGCCTGCGG Direct Gain 0 0.988602000450724 NA NA prediction 0.977204000901447 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38964352 chr19:38964352 synonymous SNV 0.002 1 21 hm5U_associated_SNPs_8084 1 Likely benign not specified RCV000244580.1
349 chr10 73558199 73558199 1 + G A rs146819206 73558199 - 73558179 73558219 41 GTCCCAGGGGTGGCCCCCTCCAGGATCCGCTCCATGTAGTA GTCCCAGGGGTGGCCCCCTCTAGGATCCGCTCCATGTAGTA Direct Gain 0 0.988540698910179 NA NA prediction 0.977081397820359 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73558199 chr10:73558199 synonymous SNV . 0 21 hm5U_associated_SNPs_8168 1 other not specified RCV000039258.5
349 chr2 98340604 98340604 1 + G A rs56127120 98340604 - 98340584 98340624 41 GAGCGCAGGCACTGGCGCAGCAGGAAGAGCCCGTCCGCCAT GAGCGCAGGCACTGGCGCAGTAGGAAGAGCCCGTCCGCCAT Direct Gain 0 0.988516186278892 NA NA prediction 0.977032372557784 Functional Gain - ZAP70 ENSG00000115085 CDS Human protein_coding chr2:98340604 chr2:98340604 synonymous SNV . 0 21 hm5U_associated_SNPs_8201 1 Likely benign Severe Combined Immune Deficiency RCV000374109.1
349 chr12 121435344 121435344 1 + G A rs118028009 121435344 - 121435324 121435364 41 TGGGAGAACTGGACGGGCTGCAGGGTGGTCAGGCTGCTGCC TGGGAGAACTGGACGGGCTGTAGGGTGGTCAGGCTGCTGCC Direct Gain 0 0.98850219749754 NA NA prediction 0.977004394995081 Functional Gain - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121435344 chr12:121435344 synonymous SNV . 0 21 hm5U_associated_SNPs_8222 2 Benign not specified RCV000246227.1
349 chr12 121435344 121435344 1 + G A rs118028009 121435344 - 121435324 121435364 41 TGGGAGAACTGGACGGGCTGCAGGGTGGTCAGGCTGCTGCC TGGGAGAACTGGACGGGCTGTAGGGTGGTCAGGCTGCTGCC Direct Gain 0 0.98850219749754 NA NA prediction 0.977004394995081 Functional Gain - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121435344 chr12:121435344 synonymous SNV . 0 21 hm5U_associated_SNPs_8222 2 Likely benign Maturity-onset diabetes of the young RCV000263322.1
349 chr11 76885842 76885842 1 + C A LUAD 76885842 - 76885822 76885862 41 GGATGGTCTCCATCATTCCTGAGTACCGCAGCTGGCGCACG GGATGGTCTCCATCATTCCTTAGTACCGCAGCTGGCGCACG Direct Gain 0 0.988471336876906 NA NA prediction 0.976942673753812 Functional Gain - MYO7A ENSG00000137474 CDS Human protein_coding chr11:76885842 chr11:76885842 stopgain 0.815 1 21 hm5U_associated_SNPs_8277 1 Likely pathogenic Retinal dystrophy RCV000225435.1
349 chr22 18571784 18571784 1 + G A rs79785382 18571784 - 18571764 18571804 41 TTGAGCTGAAGACCAAGAGGCACCAGGCAAGATCACTTTAC TTGAGCTGAAGACCAAGAGGTACCAGGCAAGATCACTTTAC Direct Gain 0 0.988425024664869 NA NA prediction 0.976850049329739 Functional Gain - PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18571784 chr22:18571784 . . 0 21 hm5U_associated_SNPs_8344 1 Likely benign Zellweger syndrome RCV000367244.1
349 chr18 42281452 42281452 1 + G A rs146868426 42281452 - 42281432 42281472 41 CGCTCTCCGCCCACCGGGATCCCCTTCCCAGGTCCTGGAGT CGCTCTCCGCCCACCGGGATTCCCTTCCCAGGTCCTGGAGT Direct Gain 0 0.988387312913956 NA NA prediction 0.976774625827911 Functional Gain - SETBP1 ENSG00000152217 CDS Human protein_coding chr18:42281452 chr18:42281452 synonymous SNV . 0 21 hm5U_associated_SNPs_8405 1 Likely benign Schinzel-Giedion syndrome RCV000287538.1
349 chr8 11615835 11615835 1 + C A rs200319078 11615835 - 11615815 11615855 41 GAGGACAGGGTGGATGGAGGGCCCATGGCCAGACATCGCAC GAGGACAGGGTGGATGGAGGTCCCATGGCCAGACATCGCAC Direct Gain 0 0.988345066140738 NA NA prediction 0.976690132281476 Functional Gain - GATA4 ENSG00000136574 CDS Human protein_coding chr8:11615835 chr8:11615835 nonsynonymous SNV 1.000 1 21 hm5U_associated_SNPs_8467 2 Benign Atrioventricular septal defect 4 RCV000461351.1
349 chr8 11615835 11615835 1 + C A rs200319078 11615835 - 11615815 11615855 41 GAGGACAGGGTGGATGGAGGGCCCATGGCCAGACATCGCAC GAGGACAGGGTGGATGGAGGTCCCATGGCCAGACATCGCAC Direct Gain 0 0.988345066140738 NA NA prediction 0.976690132281476 Functional Gain - GATA4 ENSG00000136574 CDS Human protein_coding chr8:11615835 chr8:11615835 nonsynonymous SNV 1.000 1 21 hm5U_associated_SNPs_8467 2 Benign not specified RCV000499567.1
349 chrX 107863584 107863584 1 + G A LUAD 107863584 - 107863564 107863604 41 TCCTATAGGACCAGGTGCTCCGGGGATCCCTGGACTGCCTC TCCTATAGGACCAGGTGCTCTGGGGATCCCTGGACTGCCTC Direct Gain 0 0.988282038806168 NA NA prediction 0.976564077612337 Functional Gain - COL4A5 ENSG00000188153 CDS Human protein_coding chrX:107863584 chrX:107863584 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_8540 2 Pathogenic Alport syndrome, X-linked recessive RCV000021422.1
349 chrX 107863584 107863584 1 + G A LUAD 107863584 - 107863564 107863604 41 TCCTATAGGACCAGGTGCTCCGGGGATCCCTGGACTGCCTC TCCTATAGGACCAGGTGCTCTGGGGATCCCTGGACTGCCTC Direct Gain 0 0.988282038806168 NA NA prediction 0.976564077612337 Functional Gain - COL4A5 ENSG00000188153 CDS Human protein_coding chrX:107863584 chrX:107863584 nonsynonymous SNV 1.000 5 21 hm5U_associated_SNPs_8540 2 Pathogenic not provided RCV000311568.1
349 chr14 74727407 74727407 1 + G A rs75395981 74727407 - 74727387 74727427 41 GGAGATGGCCGCCTGAGCGTCGGGGCCCCGCTCGTCCTGCT GGAGATGGCCGCCTGAGCGTTGGGGCCCCGCTCGTCCTGCT Direct Gain 0 0.988253538873269 NA NA prediction 0.976507077746539 Functional Gain - VSX2 ENSG00000119614 CDS Human protein_coding chr14:74727407 chr14:74727407 nonsynonymous SNV 0.843 2 21 hm5U_associated_SNPs_8577 3 Benign not specified RCV000179037.1
349 chr14 74727407 74727407 1 + G A rs75395981 74727407 - 74727387 74727427 41 GGAGATGGCCGCCTGAGCGTCGGGGCCCCGCTCGTCCTGCT GGAGATGGCCGCCTGAGCGTTGGGGCCCCGCTCGTCCTGCT Direct Gain 0 0.988253538873269 NA NA prediction 0.976507077746539 Functional Gain - VSX2 ENSG00000119614 CDS Human protein_coding chr14:74727407 chr14:74727407 nonsynonymous SNV 0.843 2 21 hm5U_associated_SNPs_8577 3 Likely benign Microphthalmia, isolated 6 RCV000299152.1
349 chr14 74727407 74727407 1 + G A rs75395981 74727407 - 74727387 74727427 41 GGAGATGGCCGCCTGAGCGTCGGGGCCCCGCTCGTCCTGCT GGAGATGGCCGCCTGAGCGTTGGGGCCCCGCTCGTCCTGCT Direct Gain 0 0.988253538873269 NA NA prediction 0.976507077746539 Functional Gain - VSX2 ENSG00000119614 CDS Human protein_coding chr14:74727407 chr14:74727407 nonsynonymous SNV 0.843 2 21 hm5U_associated_SNPs_8577 3 Likely benign VSX2-related Microphthalmia RCV000394769.1
349 chrX 68059551 68059551 1 + G A STAD 68059551 - 68059531 68059571 41 GGTGCGTGTGCGGCACACACCGCCCTCCCGGTTTTCCAGCC GGTGCGTGTGCGGCACACACTGCCCTCCCGGTTTTCCAGCC Direct Gain 0 0.98823664169291 NA NA prediction 0.976473283385819 Functional Gain - EFNB1 ENSG00000090776 CDS Human protein_coding chrX:68059551 chrX:68059551 nonsynonymous SNV 0.999 5 21 hm5U_associated_SNPs_8596 1 Pathogenic Craniofrontonasal dysplasia RCV000012475.14
349 chrX 49104722 49104722 1 + G A rs113045747 49104722 - 49104702 49104742 41 CGGGCAGCAGCTCCACCGCGCGGCTCTTCAGGCGCAGGGCC CGGGCAGCAGCTCCACCGCGTGGCTCTTCAGGCGCAGGGCC Direct Gain 0 0.988226501771559 NA NA prediction 0.976453003543118 Functional Gain - CCDC22 ENSG00000101997 CDS Human protein_coding chrX:49104722 chrX:49104722 nonsynonymous SNV 0.872 1 21 hm5U_associated_SNPs_8606 1 Benign not specified RCV000173852.1
349 chr12 2760900 2760900 1 + G A COAD 2760900 - 2760880 2760920 41 TGAAGGTCCACAGCAGCGTCCGGATGCCCTCCCCACGGCTC TGAAGGTCCACAGCAGCGTCTGGATGCCCTCCCCACGGCTC Direct Gain 0 0.988180417927008 NA NA prediction 0.976360835854015 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2760900 chr12:2760900 nonsynonymous SNV 0.998 5 21 hm5U_associated_SNPs_8686 1 Uncertain significance not specified RCV000170807.4
349 chr6 7542253 7542253 1 + G A rs77445784 7542253 - 7542233 7542273 41 TAGTACATCCTGCTGGTGCCCCCGCCGCCGCTGGTCACCTC TAGTACATCCTGCTGGTGCCTCCGCCGCCGCTGGTCACCTC Direct Gain 0 0.988180215725675 NA NA prediction 0.97636043145135 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7542253 chr6:7542253 synonymous SNV . 0 21 hm5U_associated_SNPs_8687 8 Benign Cardiomyopathy RCV000029675.1
349 chr6 7542253 7542253 1 + G A rs77445784 7542253 - 7542233 7542273 41 TAGTACATCCTGCTGGTGCCCCCGCCGCCGCTGGTCACCTC TAGTACATCCTGCTGGTGCCTCCGCCGCCGCTGGTCACCTC Direct Gain 0 0.988180215725675 NA NA prediction 0.97636043145135 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7542253 chr6:7542253 synonymous SNV . 0 21 hm5U_associated_SNPs_8687 8 other not specified RCV000037983.7
349 chr6 7542253 7542253 1 + G A rs77445784 7542253 - 7542233 7542273 41 TAGTACATCCTGCTGGTGCCCCCGCCGCCGCTGGTCACCTC TAGTACATCCTGCTGGTGCCTCCGCCGCCGCTGGTCACCTC Direct Gain 0 0.988180215725675 NA NA prediction 0.97636043145135 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7542253 chr6:7542253 synonymous SNV . 0 21 hm5U_associated_SNPs_8687 8 Benign Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000227163.2
349 chr6 7542253 7542253 1 + G A rs77445784 7542253 - 7542233 7542273 41 TAGTACATCCTGCTGGTGCCCCCGCCGCCGCTGGTCACCTC TAGTACATCCTGCTGGTGCCTCCGCCGCCGCTGGTCACCTC Direct Gain 0 0.988180215725675 NA NA prediction 0.97636043145135 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7542253 chr6:7542253 synonymous SNV . 0 21 hm5U_associated_SNPs_8687 8 Benign Cardiomyopathy dilated with woolly hair and keratoderma RCV000227163.2
349 chr6 7542253 7542253 1 + G A rs77445784 7542253 - 7542233 7542273 41 TAGTACATCCTGCTGGTGCCCCCGCCGCCGCTGGTCACCTC TAGTACATCCTGCTGGTGCCTCCGCCGCCGCTGGTCACCTC Direct Gain 0 0.988180215725675 NA NA prediction 0.97636043145135 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7542253 chr6:7542253 synonymous SNV . 0 21 hm5U_associated_SNPs_8687 8 Likely benign Epidermolysis bullosa, lethal acantholytic RCV000271030.1
349 chr6 7542253 7542253 1 + G A rs77445784 7542253 - 7542233 7542273 41 TAGTACATCCTGCTGGTGCCCCCGCCGCCGCTGGTCACCTC TAGTACATCCTGCTGGTGCCTCCGCCGCCGCTGGTCACCTC Direct Gain 0 0.988180215725675 NA NA prediction 0.97636043145135 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7542253 chr6:7542253 synonymous SNV . 0 21 hm5U_associated_SNPs_8687 8 Likely benign Ectodermal dysplasia skin fragility syndrome RCV000328428.1
349 chr6 7542253 7542253 1 + G A rs77445784 7542253 - 7542233 7542273 41 TAGTACATCCTGCTGGTGCCCCCGCCGCCGCTGGTCACCTC TAGTACATCCTGCTGGTGCCTCCGCCGCCGCTGGTCACCTC Direct Gain 0 0.988180215725675 NA NA prediction 0.97636043145135 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7542253 chr6:7542253 synonymous SNV . 0 21 hm5U_associated_SNPs_8687 8 Likely benign Skin fragility woolly hair syndrome RCV000330639.1
349 chr6 7542253 7542253 1 + G A rs77445784 7542253 - 7542233 7542273 41 TAGTACATCCTGCTGGTGCCCCCGCCGCCGCTGGTCACCTC TAGTACATCCTGCTGGTGCCTCCGCCGCCGCTGGTCACCTC Direct Gain 0 0.988180215725675 NA NA prediction 0.97636043145135 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7542253 chr6:7542253 synonymous SNV . 0 21 hm5U_associated_SNPs_8687 8 Likely benign Cardiomyopathy, ARVC RCV000387490.1
349 chr6 107955464 107955464 1 + C A rs369211430 107955464 - 107955444 107955484 41 GGCGGGGGCAGCAGGCCTGGGGGGTTCCCGGGCATGGTGGG GGCGGGGGCAGCAGGCCTGGTGGGTTCCCGGGCATGGTGGG Direct Gain 0 0.988159475742449 NA NA prediction 0.976318951484897 Functional Gain - SOBP ENSG00000112320 CDS Human protein_coding chr6:107955464 chr6:107955464 synonymous SNV . 0 21 hm5U_associated_SNPs_8720 1 Likely benign not specified RCV000192856.1
349 chr3 121976030 121976030 1 + G A SKCM 121976030 - 121976010 121976050 41 GTGTTGCAAGTGTCAAATATCCTGTATCCCAGCGTCAAGTT GTGTTGCAAGTGTCAAATATTCTGTATCCCAGCGTCAAGTT Direct Gain 0 0.988071104836285 NA NA prediction 0.976142209672571 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:121976030 chr3:121976030 synonymous SNV . 0 21 hm5U_associated_SNPs_8844 2 Likely benign Hypocalcemia, autosomal dominant 1 RCV000472948.1
349 chr3 121976030 121976030 1 + G A SKCM 121976030 - 121976010 121976050 41 GTGTTGCAAGTGTCAAATATCCTGTATCCCAGCGTCAAGTT GTGTTGCAAGTGTCAAATATTCTGTATCCCAGCGTCAAGTT Direct Gain 0 0.988071104836285 NA NA prediction 0.976142209672571 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:121976030 chr3:121976030 synonymous SNV . 0 21 hm5U_associated_SNPs_8844 2 Likely benign Hypocalciuric hypercalcemia, familial, type 1 RCV000472948.1
349 chr2 97427135 97427135 1 + G A rs34147094 97427135 - 97427115 97427155 41 CGGAGGAACTTGGTGAGCACCACCAGCACGCCGGACGTGTT CGGAGGAACTTGGTGAGCACTACCAGCACGCCGGACGTGTT Direct Gain 0 0.988008469515027 NA NA prediction 0.976016939030055 Functional Gain - CNNM4 ENSG00000158158 CDS Human protein_coding chr2:97427135 chr2:97427135 synonymous SNV . 0 21 hm5U_associated_SNPs_8943 2 Benign not specified RCV000081996.4
349 chr2 97427135 97427135 1 + G A rs34147094 97427135 - 97427115 97427155 41 CGGAGGAACTTGGTGAGCACCACCAGCACGCCGGACGTGTT CGGAGGAACTTGGTGAGCACTACCAGCACGCCGGACGTGTT Direct Gain 0 0.988008469515027 NA NA prediction 0.976016939030055 Functional Gain - CNNM4 ENSG00000158158 CDS Human protein_coding chr2:97427135 chr2:97427135 synonymous SNV . 0 21 hm5U_associated_SNPs_8943 2 Uncertain significance Cone-rod dystrophy amelogenesis imperfecta RCV000259578.1
349 chrX 152991209 152991209 1 + G A GBM 152991209 - 152991189 152991229 41 CGTGGGCCACCAGACGGCTGCGGAACGACAGGGCCAGTTGG CGTGGGCCACCAGACGGCTGTGGAACGACAGGGCCAGTTGG Direct Gain 0 0.987975598303298 NA NA prediction 0.975951196606596 Functional Gain - ABCD1 ENSG00000101986 CDS Human protein_coding chrX:152991209 chrX:152991209 nonsynonymous SNV 0.997 5 21 hm5U_associated_SNPs_8998 1 Likely pathogenic not provided RCV000414525.1
349 chr10 85974026 85974026 1 + G A rs150969538 85974026 - 85974006 85974046 41 GTGCGGGGCGCAGGGCTGGGCCGCTTGCGGAGCACCCGCCG GTGCGGGGCGCAGGGCTGGGTCGCTTGCGGAGCACCCGCCG Direct Gain 0 0.987891843016722 NA NA prediction 0.975783686033443 Functional Gain - CDHR1 ENSG00000148600 CDS Human protein_coding chr10:85974026 chr10:85974026 synonymous SNV . 0 21 hm5U_associated_SNPs_9143 2 Uncertain significance not specified RCV000266540.1
349 chr10 85974026 85974026 1 + G A rs150969538 85974026 - 85974006 85974046 41 GTGCGGGGCGCAGGGCTGGGCCGCTTGCGGAGCACCCGCCG GTGCGGGGCGCAGGGCTGGGTCGCTTGCGGAGCACCCGCCG Direct Gain 0 0.987891843016722 NA NA prediction 0.975783686033443 Functional Gain - CDHR1 ENSG00000148600 CDS Human protein_coding chr10:85974026 chr10:85974026 synonymous SNV . 0 21 hm5U_associated_SNPs_9143 2 Uncertain significance Cone-Rod Dystrophy, Recessive RCV000395283.1
349 chr12 2676929 2676929 1 + G A STAD 2676929 - 2676909 2676949 41 GAAAATCCTCAGCAGCCGGACGCATCTGAGCACGGAGATGC GAAAATCCTCAGCAGCCGGATGCATCTGAGCACGGAGATGC Direct Gain 0 0.987862200313131 NA NA prediction 0.975724400626262 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2676929 chr12:2676929 nonsynonymous SNV 0.659 4 21 hm5U_associated_SNPs_9188 3 Uncertain significance not specified RCV000170784.3
349 chr12 2676929 2676929 1 + G A STAD 2676929 - 2676909 2676949 41 GAAAATCCTCAGCAGCCGGACGCATCTGAGCACGGAGATGC GAAAATCCTCAGCAGCCGGATGCATCTGAGCACGGAGATGC Direct Gain 0 0.987862200313131 NA NA prediction 0.975724400626262 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2676929 chr12:2676929 nonsynonymous SNV 0.659 4 21 hm5U_associated_SNPs_9188 3 Uncertain significance Brugada syndrome RCV000312163.1
349 chr12 2676929 2676929 1 + G A STAD 2676929 - 2676909 2676949 41 GAAAATCCTCAGCAGCCGGACGCATCTGAGCACGGAGATGC GAAAATCCTCAGCAGCCGGATGCATCTGAGCACGGAGATGC Direct Gain 0 0.987862200313131 NA NA prediction 0.975724400626262 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2676929 chr12:2676929 nonsynonymous SNV 0.659 4 21 hm5U_associated_SNPs_9188 3 Uncertain significance Timothy syndrome RCV000369143.1
349 chr16 7568299 7568299 1 + G A SKCM 7568299 - 7568279 7568319 41 GTACAGGTTTAATGTGTGCTCGGGAACCGTGGTCTGGCCTG GTACAGGTTTAATGTGTGCTTGGGAACCGTGGTCTGGCCTG Direct Gain 0 0.987855805941149 NA NA prediction 0.975711611882297 Functional Gain - RBFOX1 ENSG00000078328 CDS Human protein_coding chr16:7568299 chr16:7568299 nonsynonymous SNV 0.997 4 21 hm5U_associated_SNPs_9195 1 Uncertain significance not specified RCV000486306.1
349 chr1 237791320 237791320 1 + G A ACC 237791320 - 237791300 237791340 41 TTCTCACACTCAGCAGGGACCGAATCTGACCAAGGGATGCC TTCTCACACTCAGCAGGGACTGAATCTGACCAAGGGATGCC Direct Gain 0 0.987835857209934 NA NA prediction 0.975671714419868 Functional Gain - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237791320 chr1:237791320 nonsynonymous SNV 0.192 4 21 hm5U_associated_SNPs_9235 1 Uncertain significance not specified RCV000036778.2
349 chr4 6302665 6302665 1 + G A rs151153967 6302665 - 6302645 6302685 41 AGGTTGGGCTCGAAGCGCAGCAGCAGGTCGGTGAGGGTGCG AGGTTGGGCTCGAAGCGCAGTAGCAGGTCGGTGAGGGTGCG Direct Gain 0 0.987819234893343 NA NA prediction 0.975638469786686 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6302665 chr4:6302665 synonymous SNV . 0 21 hm5U_associated_SNPs_9256 1 Likely benign not specified RCV000323516.1
349 chr16 86601376 86601376 1 + C T rs79452610 86601376 + 86601356 86601396 41 AAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTC AAGCCCGGCAAGGGCAGTTATTGGACCCTGGACCCGGACTC Direct Gain 0 0.987747695732634 NA NA prediction 0.975495391465267 Functional Gain - FOXC2 ENSG00000176692 CDS Human protein_coding chr16:86601376 chr16:86601376 synonymous SNV . 0 21 hm5U_associated_SNPs_9360 1 Benign not specified RCV000246078.1
349 chr10 73767962 73767962 1 + C A rs115579748 73767962 - 73767942 73767982 41 TCCACCTGCGGGGTCAGGGGGATGCCGGCGAAGCGGTACAT TCCACCTGCGGGGTCAGGGGTATGCCGGCGAAGCGGTACAT Direct Gain 0 0.987687279852701 NA NA prediction 0.975374559705402 Functional Gain - CHST3 ENSG00000122863 CDS Human protein_coding chr10:73767962 chr10:73767962 synonymous SNV . 0 21 hm5U_associated_SNPs_9458 1 Benign not specified RCV000177193.1
349 chr2 241808314 241808314 1 + C A rs34116584 241808314 - 241808294 241808334 41 GGGGCTTGAGCAGGGCCTTGGGGGGGGTCACCAGCAGCTTG GGGGCTTGAGCAGGGCCTTGTGGGGGGTCACCAGCAGCTTG Direct Gain 0 0.98763626778229 NA NA prediction 0.97527253556458 Functional Gain - AGXT ENSG00000172482 CDS Human protein_coding chr2:241808314 chr2:241808314 nonsynonymous SNV 0.011 5 21 hm5U_associated_SNPs_9532 1 Uncertain significance Primary hyperoxaluria, type I RCV000186220.1
349 chr12 2719827 2719827 1 + G A STAD 2719827 - 2719807 2719847 41 GGTGTTGAGCAGGATGAGGACGAACATCAGGTACTCGAAGT GGTGTTGAGCAGGATGAGGATGAACATCAGGTACTCGAAGT Direct Gain 0 0.987608740103534 NA NA prediction 0.975217480207067 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2719827 chr12:2719827 nonsynonymous SNV 0.997 2 21 hm5U_associated_SNPs_9570 3 Uncertain significance not specified RCV000223923.2
349 chr12 2719827 2719827 1 + G A STAD 2719827 - 2719807 2719847 41 GGTGTTGAGCAGGATGAGGACGAACATCAGGTACTCGAAGT GGTGTTGAGCAGGATGAGGATGAACATCAGGTACTCGAAGT Direct Gain 0 0.987608740103534 NA NA prediction 0.975217480207067 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2719827 chr12:2719827 nonsynonymous SNV 0.997 2 21 hm5U_associated_SNPs_9570 3 Uncertain significance Short QT Syndrome 4 RCV000415626.1
349 chr12 2719827 2719827 1 + G A STAD 2719827 - 2719807 2719847 41 GGTGTTGAGCAGGATGAGGACGAACATCAGGTACTCGAAGT GGTGTTGAGCAGGATGAGGATGAACATCAGGTACTCGAAGT Direct Gain 0 0.987608740103534 NA NA prediction 0.975217480207067 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2719827 chr12:2719827 nonsynonymous SNV 0.997 2 21 hm5U_associated_SNPs_9570 3 Uncertain significance Long QT syndrome RCV000463570.1
349 chr1 240286516 240286516 1 + G A rs149514160 240286516 - 240286496 240286536 41 GCTTCTTCTGGAGGCCCGTTCTCCTGCTGGCTGAACAGCTT GCTTCTTCTGGAGGCCCGTTTTCCTGCTGGCTGAACAGCTT Direct Gain 0 0.987602412510367 NA NA prediction 0.975204825020734 Functional Gain - FMN2 ENSG00000155816 CDS Human protein_coding chr1:240286516 chr1:240286516 synonymous SNV . 0 21 hm5U_associated_SNPs_9578 1 Likely benign not specified RCV000502296.1
349 chr4 55139789 55139789 1 + G A ESCA 55139789 - 55139769 55139809 41 GAAAGTCACACGGCCCTCCACGGTACTCCTGTCTCGGGAGT GAAAGTCACACGGCCCTCCATGGTACTCCTGTCTCGGGAGT Direct Gain 0 0.987484147124164 NA NA prediction 0.974968294248328 Functional Gain - PDGFRA ENSG00000134853 CDS Human protein_coding chr4:55139789 chr4:55139789 nonsynonymous SNV 0.800 1 21 hm5U_associated_SNPs_9761 1 Uncertain significance Gastrointestinal stromal tumor RCV000233265.2
349 chr17 7636497 7636497 1 + G A rs117035657 7636497 - 7636477 7636517 41 AGGGCCGGGATATAGGGGCCCCGCACCGTCCCAAACTGCAC AGGGCCGGGATATAGGGGCCTCGCACCGTCCCAAACTGCAC Direct Gain 0 0.987463872035284 NA NA prediction 0.974927744070568 Functional Gain - DNAH2 ENSG00000183914 CDS Human protein_coding chr17:7636497 chr17:7636497 synonymous SNV . 0 21 hm5U_associated_SNPs_9796 1 Likely benign not specified RCV000455962.1
349 chr16 55731835 55731835 1 + G A rs5569 55731835 - 55731815 55731855 41 TGGAAGTCATCTGCCAGGCCCGTGATGACAGCCTCCATGCC TGGAAGTCATCTGCCAGGCCTGTGATGACAGCCTCCATGCC Direct Gain 0 0.987365032767224 NA NA prediction 0.974730065534447 Functional Gain - SLC6A2 ENSG00000103546 CDS Human protein_coding chr16:55731835 chr16:55731835 synonymous SNV . 0 21 hm5U_associated_SNPs_9940 1 Likely benign Orthostatic intolerance RCV000394956.1
349 chr2 98354511 98354511 1 + G A rs3192177 98354511 - 98354491 98354531 41 GGTGGACACTCTGGTGGGCACTCCATCCGCTTGCCCTGCTC GGTGGACACTCTGGTGGGCATTCCATCCGCTTGCCCTGCTC Direct Gain 0 0.987340158260958 NA NA prediction 0.974680316521915 Functional Gain - ZAP70 ENSG00000115085 CDS Human protein_coding chr2:98354511 chr2:98354511 synonymous SNV . 0 21 hm5U_associated_SNPs_9972 2 Benign not specified RCV000126355.3
349 chr2 98354511 98354511 1 + G A rs3192177 98354511 - 98354491 98354531 41 GGTGGACACTCTGGTGGGCACTCCATCCGCTTGCCCTGCTC GGTGGACACTCTGGTGGGCATTCCATCCGCTTGCCCTGCTC Direct Gain 0 0.987340158260958 NA NA prediction 0.974680316521915 Functional Gain - ZAP70 ENSG00000115085 CDS Human protein_coding chr2:98354511 chr2:98354511 synonymous SNV . 0 21 hm5U_associated_SNPs_9972 2 Benign Severe Combined Immune Deficiency RCV000356778.1
349 chr9 2718696 2718696 1 + G A rs141378856 2718696 - 2718676 2718716 41 TCGGGCGTGGAGGCTAGGCGCAGCAGGTACTCGAGCGTGAA TCGGGCGTGGAGGCTAGGCGTAGCAGGTACTCGAGCGTGAA Direct Gain 0 0.987323382149574 NA NA prediction 0.974646764299149 Functional Gain - KCNV2 ENSG00000168263 CDS Human protein_coding chr9:2718696 chr9:2718696 synonymous SNV . 0 21 hm5U_associated_SNPs_10005 1 Likely benign not specified RCV000173558.2
349 chr17 8218749 8218749 1 + G A rs8067778 8218749 - 8218729 8218769 41 AGGTAGGAAGCCTCGGACGTCACCACCTCGAAAAGACTCTA AGGTAGGAAGCCTCGGACGTTACCACCTCGAAAAGACTCTA Direct Gain 0 0.987322270645538 NA NA prediction 0.974644541291075 Functional Gain - ARHGEF15 ENSG00000198844 CDS Human protein_coding chr17:8218749 chr17:8218749 synonymous SNV . 0 21 hm5U_associated_SNPs_10009 1 Benign Early infantile epileptic encephalopathy RCV000456737.1
349 chr2 176957822 176957822 1 + G A rs2518053 176957822 - 176957802 176957842 41 GCAAAGCCGGAGGCTGCCGCCGCCGCCGCCGCAGCCGCCGC GCAAAGCCGGAGGCTGCCGCTGCCGCCGCCGCAGCCGCCGC Direct Gain 0 0.987315533226961 NA NA prediction 0.974631066453922 Functional Gain - HOXD13 ENSG00000128714 CDS Human protein_coding chr2:176957822 chr2:176957822 synonymous SNV . 0 21 hm5U_associated_SNPs_10019 1 Benign not specified RCV000173147.2
349 chr3 119013714 119013714 1 + C A rs72960626 119013714 - 119013694 119013734 41 GCTGCCCCTCCGTCTCTGCCGCCCCTCTGCTTGGCACCGCT GCTGCCCCTCCGTCTCTGCCTCCCCTCTGCTTGGCACCGCT Direct Gain 0 0.987239517336986 NA NA prediction 0.974479034673973 Functional Gain - ARHGAP31 ENSG00000031081 UTR5 Human protein_coding chr3:119013714 chr3:119013714 . . 0 21 hm5U_associated_SNPs_10128 1 Benign Adams-Oliver syndrome RCV000317937.1
349 chr22 41574665 41574665 1 + G A PRAD 41574665 - 41574645 41574685 41 GGGGGGGCTGGGACTGTGGCCGTGGAGAAGGGACAGGCTGG GGGGGGGCTGGGACTGTGGCTGTGGAGAAGGGACAGGCTGG Direct Gain 0 0.98723942711898 NA NA prediction 0.974478854237961 Functional Gain - EP300 ENSG00000100393 CDS Human protein_coding chr22:41574665 chr22:41574665 nonsynonymous SNV 0.996 1 21 hm5U_associated_SNPs_10129 1 not provided not specified RCV000120729.1
349 chr7 147844726 147844726 1 + C A COAD 147844726 - 147844706 147844746 41 GCGGATCTGCTGCGGTAGCCGGTCCACCTGTAGGCTGGCCT GCGGATCTGCTGCGGTAGCCTGTCCACCTGTAGGCTGGCCT Direct Gain 0 0.987178458364506 NA NA prediction 0.974356916729012 Functional Gain - CNTNAP2 ENSG00000174469 CDS Human protein_coding chr7:147844726 chr7:147844726 synonymous SNV . 0 21 hm5U_associated_SNPs_10200 1 Uncertain significance not specified RCV000081595.4
349 chr3 45518046 45518046 1 + G A rs145135580 45518046 - 45518026 45518066 41 TGTAGGAGTCTGTGGCTGGGCGAGATGGCCACGTGGGAGGT TGTAGGAGTCTGTGGCTGGGTGAGATGGCCACGTGGGAGGT Direct Gain 0 0.987129632043649 NA NA prediction 0.974259264087298 Functional Gain - LARS2 ENSG00000011376 CDS Human protein_coding chr3:45518046 chr3:45518046 synonymous SNV . 0 21 hm5U_associated_SNPs_10276 1 Likely benign not specified RCV000215150.2
349 chr3 10183734 10183734 1 + C A KIRC 10183734 - 10183714 10183754 41 TGACCTGGGAGGGCTCGCGCGAGTTCACCGAGCGCAGCACG TGACCTGGGAGGGCTCGCGCTAGTTCACCGAGCGCAGCACG Direct Gain 0 0.987107712966572 NA NA prediction 0.974215425933143 Functional Gain - VHL ENSG00000134086 CDS Human protein_coding chr3:10183734 chr3:10183734 stopgain 0.994 0 21 hm5U_associated_SNPs_10304 1 Pathogenic Von Hippel-Lindau syndrome RCV000208815.1
349 chr10 73455222 73455222 1 + G A rs111033461 73455222 - 73455202 73455242 41 TTGATGTAGTAGGGTGCGTCCTTCCACGTGGGGTGGTTGTC TTGATGTAGTAGGGTGCGTCTTTCCACGTGGGGTGGTTGTC Direct Gain 0 0.987057348797474 NA NA prediction 0.974114697594947 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73455222 chr10:73455222 synonymous SNV . 0 21 hm5U_associated_SNPs_10387 4 other not specified RCV000039128.3
349 chr10 73455222 73455222 1 + G A rs111033461 73455222 - 73455202 73455242 41 TTGATGTAGTAGGGTGCGTCCTTCCACGTGGGGTGGTTGTC TTGATGTAGTAGGGTGCGTCTTTCCACGTGGGGTGGTTGTC Direct Gain 0 0.987057348797474 NA NA prediction 0.974114697594947 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73455222 chr10:73455222 synonymous SNV . 0 21 hm5U_associated_SNPs_10387 4 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000270255.1
349 chr10 73455222 73455222 1 + G A rs111033461 73455222 - 73455202 73455242 41 TTGATGTAGTAGGGTGCGTCCTTCCACGTGGGGTGGTTGTC TTGATGTAGTAGGGTGCGTCTTTCCACGTGGGGTGGTTGTC Direct Gain 0 0.987057348797474 NA NA prediction 0.974114697594947 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73455222 chr10:73455222 synonymous SNV . 0 21 hm5U_associated_SNPs_10387 4 Uncertain significance Retinitis pigmentosa-deafness syndrome RCV000309836.1
349 chr10 73455222 73455222 1 + G A rs111033461 73455222 - 73455202 73455242 41 TTGATGTAGTAGGGTGCGTCCTTCCACGTGGGGTGGTTGTC TTGATGTAGTAGGGTGCGTCTTTCCACGTGGGGTGGTTGTC Direct Gain 0 0.987057348797474 NA NA prediction 0.974114697594947 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73455222 chr10:73455222 synonymous SNV . 0 21 hm5U_associated_SNPs_10387 4 Uncertain significance CDH23-Related Disorders RCV000364525.1
349 chr9 12694255 12694255 1 + C A rs34509359 12694255 - 12694235 12694275 41 GCGCAAGGGCCAGACCTCCCGATCATCTCTGCCATCATGGG GCGCAAGGGCCAGACCTCCCTATCATCTCTGCCATCATGGG Direct Gain 0 0.98704970117203 NA NA prediction 0.974099402344061 Functional Gain - TYRP1 ENSG00000107165 CDS Human protein_coding chr9:12694255 chr9:12694255 synonymous SNV . 0 21 hm5U_associated_SNPs_10404 2 Benign not specified RCV000241851.1
349 chr9 12694255 12694255 1 + C A rs34509359 12694255 - 12694235 12694275 41 GCGCAAGGGCCAGACCTCCCGATCATCTCTGCCATCATGGG GCGCAAGGGCCAGACCTCCCTATCATCTCTGCCATCATGGG Direct Gain 0 0.98704970117203 NA NA prediction 0.974099402344061 Functional Gain - TYRP1 ENSG00000107165 CDS Human protein_coding chr9:12694255 chr9:12694255 synonymous SNV . 0 21 hm5U_associated_SNPs_10404 2 Likely benign Oculocutaneous albinism RCV000339735.1
349 chr11 76867745 76867745 1 + G A rs34477144 76867745 - 76867725 76867765 41 GCTGCCAGGAACTGCAGGATCAGCTTTGTGCTCTCCGTCTT GCTGCCAGGAACTGCAGGATTAGCTTTGTGCTCTCCGTCTT Direct Gain 0 0.986967265180374 NA NA prediction 0.973934530360748 Functional Gain - MYO7A ENSG00000137474 CDS Human protein_coding chr11:76867745 chr11:76867745 synonymous SNV . 0 21 hm5U_associated_SNPs_10535 1 other not specified RCV000036177.5
349 chr4 100534123 100534123 1 + G A rs145444300 100534123 - 100534103 100534143 41 GAGTCAAGGTTCTCCTCCCCCTCGTCAGGGGTGGCTGCGAT GAGTCAAGGTTCTCCTCCCCTTCGTCAGGGGTGGCTGCGAT Direct Gain 0 0.98690695115266 NA NA prediction 0.97381390230532 Functional Gain - MTTP ENSG00000138823 CDS Human protein_coding chr4:100534123 chr4:100534123 synonymous SNV . 0 21 hm5U_associated_SNPs_10628 1 Uncertain significance Abetalipoproteinemia RCV000375996.1
349 chrX 605356 605356 1 + G A rs781656634 605356 - 605336 605376 41 GCGGGTCAGAGCCCCAGGGCCTCCGCGTGCTTCCGCGCCTT GCGGGTCAGAGCCCCAGGGCTTCCGCGTGCTTCCGCGCCTT Direct Gain 0 0.986885647350788 NA NA prediction 0.973771294701575 Functional Gain - SHOX ENSG00000185960 CDS Human protein_coding chrX:605356 chrX:605356 synonymous SNV . 0 21 hm5U_associated_SNPs_10663 1 Uncertain significance not specified RCV000366719.1
349 chr1 47882221 47882221 1 + G A rs201158701 47882221 - 47882201 47882241 41 GCCAGAGCCATGGCGATGAGCGCGATGTACGAGTAGGGCGG GCCAGAGCCATGGCGATGAGTGCGATGTACGAGTAGGGCGG Direct Gain 0 0.986853558285918 NA NA prediction 0.973707116571836 Functional Gain - FOXE3 ENSG00000186790 CDS Human protein_coding chr1:47882221 chr1:47882221 synonymous SNV . 0 21 hm5U_associated_SNPs_10722 1 Likely benign not specified RCV000429091.1
349 chr10 69970135 69970135 1 + T A rs199585352 69970135 - 69970115 69970155 41 TTCCATGGAGGAAAAGGCAGAAAATATGTCAAGTCCTTTAC TTCCATGGAGGAAAAGGCAGTAAATATGTCAAGTCCTTTAC Direct Gain 0 0.986831783019026 NA NA prediction 0.973663566038053 Functional Gain - MYPN ENSG00000138347 CDS Human protein_coding chr10:69970135 chr10:69970135 nonsynonymous SNV 0.998 4 21 hm5U_associated_SNPs_10757 2 Uncertain significance Primary dilated cardiomyopathy RCV000157386.1
349 chr10 69970135 69970135 1 + T A rs199585352 69970135 - 69970115 69970155 41 TTCCATGGAGGAAAAGGCAGAAAATATGTCAAGTCCTTTAC TTCCATGGAGGAAAAGGCAGTAAATATGTCAAGTCCTTTAC Direct Gain 0 0.986831783019026 NA NA prediction 0.973663566038053 Functional Gain - MYPN ENSG00000138347 CDS Human protein_coding chr10:69970135 chr10:69970135 nonsynonymous SNV 0.998 4 21 hm5U_associated_SNPs_10757 2 Likely benign Dilated cardiomyopathy 1KK RCV000467848.1
349 chr16 4387055 4387055 1 + G A rs200720013 4387055 - 4387035 4387075 41 GGCCAGGGGTAGGGGTAAGCCGGGCAGGCCAGGGCCTCCAA GGCCAGGGGTAGGGGTAAGCTGGGCAGGCCAGGGCCTCCAA Direct Gain 0 0.986754668649258 NA NA prediction 0.973509337298515 Functional Gain - GLIS2 ENSG00000126603 CDS Human protein_coding chr16:4387055 chr16:4387055 nonsynonymous SNV 0.451 1 21 hm5U_associated_SNPs_10890 1 Uncertain significance Nephronophthisis RCV000197087.2
349 chr17 18077147 18077147 1 + G A GBM 18077147 - 18077127 18077167 41 AGCTGGAGTTGGCCGTGGGCCGCTGGGTCCGCGTCGACTGG AGCTGGAGTTGGCCGTGGGCTGCTGGGTCCGCGTCGACTGG Direct Gain 0 0.986690764574567 NA NA prediction 0.973381529149135 Functional Gain - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18077147 chr17:18077147 nonsynonymous SNV 0.981 1 21 hm5U_associated_SNPs_10999 2 Likely benign not specified RCV000219329.1
349 chr17 18077147 18077147 1 + G A GBM 18077147 - 18077127 18077167 41 AGCTGGAGTTGGCCGTGGGCCGCTGGGTCCGCGTCGACTGG AGCTGGAGTTGGCCGTGGGCTGCTGGGTCCGCGTCGACTGG Direct Gain 0 0.986690764574567 NA NA prediction 0.973381529149135 Functional Gain - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18077147 chr17:18077147 nonsynonymous SNV 0.981 1 21 hm5U_associated_SNPs_10999 2 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000392767.1