1 chrX 153667407 153667407 1 + G A COAD 153667407 + 153667387 153667427 41 ACTCGCTACCTGGACTTCAAGGTGGTGGAGGGCAGCTTTGT ACTCGCTACCTGGACTTCAAAGTGGTGGAGGGCAGCTTTGT Direct Loss 1 0 Functional Loss -1 31520064;CRA001302;m7G-miCLIP-Seq;HEK293T;RppH treatment  GDI1 ENSG00000203879 CDS Human protein_coding chrX:153667407 chrX:153667407 synonymous SNV . 0 21 hm7G_associated_SNPs_27 1 Likely benign not specified RCV000419604.1
2 chr5 149776232 149776232 1 + C T rs15251 149776250 + 149776230 149776270 41 AGCAAAGAGAGACAAAGCAAGTGGTGATGTCAAGGAGAAGA AGTAAAGAGAGACAAAGCAAGTGGTGATGTCAAGGAGAAGA < 41bp 1 0.495752664290594 Functional Loss -0.504247335709406 31520064;CRA001302;m7G-miCLIP-Seq;Hela;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149776250 chr5:149776232 nonsynonymous SNV 0.492 1 3 hm7G_associated_SNPs_106 2 other not specified RCV000118615.3
3 chr5 149776232 149776232 1 + C T rs15251 149776250 + 149776230 149776270 41 AGCAAAGAGAGACAAAGCAAGTGGTGATGTCAAGGAGAAGA AGTAAAGAGAGACAAAGCAAGTGGTGATGTCAAGGAGAAGA < 41bp 1 0.495752664290594 Functional Loss -0.504247335709406 31520064;CRA001302;m7G-miCLIP-Seq;Hela;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149776250 chr5:149776232 nonsynonymous SNV 0.492 1 3 hm7G_associated_SNPs_106 2 Benign Treacher Collins Syndrome, Dominant RCV000293133.1
4 chr12 6979725 6979725 1 + G A rs144171030 6979715 + 6979695 6979735 41 TATATCTTCACCCTGTAATGGTTGGGACCAGGCCAATCCCT TATATCTTCACCCTGTAATGGTTGGGACCAAGCCAATCCCT < 41bp 1 0.368399749882463 Functional Loss -0.631600250117537 31031084;GSE112276;m7G-seq;HeLa;Control|31031084;GSE112276;m7G-seq;HepG2;Control TPI1 ENSG00000111669 UTR3 Human protein_coding chr12:6979715 chr12:6979725 . . 0 31 hm7G_associated_SNPs_133 1 Uncertain significance Triosephosphate isomerase deficiency RCV000356073.1
5 chr22 24135750 24135750 1 + C T COAD 24135752 + 24135732 24135772 41 TTTGTCTGTTACAGATCACGGATACACGACTCTAGCCACCA TTTGTCTGTTACAGATCATGGATACACGACTCTAGCCACCA < 41bp 1 0.486274602400807 Functional Loss -0.513725397599193 31031084;GSE112276;m7G-seq;HeLa;Control|31031084;GSE112276;m7G-seq;HepG2;Control SMARCB1 ENSG00000099956 CDS Human protein_coding chr22:24135752 chr22:24135750 synonymous SNV . 0 19 hm7G_associated_SNPs_189 2 Likely benign Rhabdoid tumor predisposition syndrome 1 RCV000476179.1
6 chr22 24135750 24135750 1 + C T COAD 24135752 + 24135732 24135772 41 TTTGTCTGTTACAGATCACGGATACACGACTCTAGCCACCA TTTGTCTGTTACAGATCATGGATACACGACTCTAGCCACCA < 41bp 1 0.486274602400807 Functional Loss -0.513725397599193 31031084;GSE112276;m7G-seq;HeLa;Control|31031084;GSE112276;m7G-seq;HepG2;Control SMARCB1 ENSG00000099956 CDS Human protein_coding chr22:24135752 chr22:24135750 synonymous SNV . 0 19 hm7G_associated_SNPs_189 2 Likely benign Schwannomatosis RCV000476179.1
7 chr1 93303114 93303114 1 + A G rs11540832 93303114 + 93303094 93303134 41 TGTTGCAGATTACATGCGCTACTTAATGGAAGAAGATGAAG TGTTGCAGATTACATGCGCTGCTTAATGGAAGAAGATGAAG Direct Gain 0 0.945319089723356 Functional Gain 0.945319089723356 - RPL5 ENSG00000122406 CDS Human protein_coding chr1:93303114 chr1:93303114 nonsynonymous SNV 0.996 0 21 hm7G_associated_SNPs_322 2 other Diamond-Blackfan anemia RCV000233634.3
8 chr1 93303114 93303114 1 + A G rs11540832 93303114 + 93303094 93303134 41 TGTTGCAGATTACATGCGCTACTTAATGGAAGAAGATGAAG TGTTGCAGATTACATGCGCTGCTTAATGGAAGAAGATGAAG Direct Gain 0 0.945319089723356 Functional Gain 0.945319089723356 - RPL5 ENSG00000122406 CDS Human protein_coding chr1:93303114 chr1:93303114 nonsynonymous SNV 0.996 0 21 hm7G_associated_SNPs_322 2 Likely benign not specified RCV000503324.1
9 chr1 120254506 120254506 1 + A G rs561931 120254506 + 120254486 120254526 41 CCAATCAAAAGGAGACTGTAAGAGGAGGAGGAGGAGGAGAT CCAATCAAAAGGAGACTGTAGGAGGAGGAGGAGGAGGAGAT Direct Gain 0 0.862461785439494 Functional Gain 0.862461785439494 - PHGDH ENSG00000092621 upstream Human protein_coding chr1:120254506 chr1:120254506 . . 0 21 hm7G_associated_SNPs_326 1 Benign Phosphoglycerate dehydrogenase deficiency RCV000267376.1
10 chr2 47630353 47630353 1 + C G rs17217716 47630353 + 47630333 47630373 41 GGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGG GGCGGTGCAGCCGAAGGAGAGGCTGCAGTTGGAGAGCGCGG Direct Gain 0 0.848465099824755 Functional Gain 0.848465099824755 - MSH2 ENSG00000095002 CDS Human protein_coding chr2:47630353 chr2:47630353 nonsynonymous SNV 1.000 2 21 hm7G_associated_SNPs_345 1 Uncertain significance Lynch syndrome RCV000460417.1
11 chr2 47698132 47698132 1 + A G rs55778204 47698132 + 47698112 47698152 41 CTTCTTTAAATGAAGAGTATACCAAAAATAAAACAGAATAT CTTCTTTAAATGAAGAGTATGCCAAAAATAAAACAGAATAT Direct Gain 0 0.874379514863144 Functional Gain 0.874379514863144 - MSH2 ENSG00000095002 CDS Human protein_coding chr2:47698132 chr2:47698132 nonsynonymous SNV 1.000 2 21 hm7G_associated_SNPs_346 2 Benign Lynch syndrome RCV000076247.4
12 chr2 47698132 47698132 1 + A G rs55778204 47698132 + 47698112 47698152 41 CTTCTTTAAATGAAGAGTATACCAAAAATAAAACAGAATAT CTTCTTTAAATGAAGAGTATGCCAAAAATAAAACAGAATAT Direct Gain 0 0.874379514863144 Functional Gain 0.874379514863144 - MSH2 ENSG00000095002 CDS Human protein_coding chr2:47698132 chr2:47698132 nonsynonymous SNV 1.000 2 21 hm7G_associated_SNPs_346 2 Likely benign not specified RCV000445069.2
13 chr2 220367160 220367160 1 + C G rs36029384 220367160 + 220367140 220367180 41 GTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGG GTTGAGAATCCACAGACACAGGAGGTGAGAGCAGAGTGGGG Direct Gain 0 0.851931300810296 Functional Gain 0.851931300810296 - GMPPA ENSG00000144591 CDS Human protein_coding chr2:220367160 chr2:220367160 nonsynonymous SNV 0.526 0 21 hm7G_associated_SNPs_357 1 Uncertain significance not specified RCV000323560.1
14 chr3 23959425 23959425 1 + C G rs35629664 23959425 + 23959405 23959445 41 ATGCGCTTTCTTCTGAGGGTCCGCTGCTGGCAGTACCGCCA ATGCGCTTTCTTCTGAGGGTGCGCTGCTGGCAGTACCGCCA Direct Gain 0 0.845365095706811 Functional Gain 0.845365095706811 - RPL15 ENSG00000174748 CDS Human protein_coding chr3:23959425 chr3:23959425 synonymous SNV . 0 21 hm7G_associated_SNPs_359 1 Likely benign not specified RCV000503152.1
15 chr3 39431918 39431918 1 + A G rs34127778 39431918 + 39431898 39431938 41 TTTTGTCTGCTTTCAGGTCTAGACGTGTTGGGATGTTGGCT TTTTGTCTGCTTTCAGGTCTGGACGTGTTGGGATGTTGGCT Direct Gain 0 0.953572203365567 Functional Gain 0.953572203365567 - SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39431918 chr3:39431918 nonsynonymous SNV 0.610 0 21 hm7G_associated_SNPs_360 1 Likely benign not specified RCV000425555.1
16 chr3 128533128 128533128 1 + C G rs59753334 128533128 + 128533108 128533148 41 CCAAAAAGCTTTTCATCTCTCCAGGGGGAAAACTGTCTAGT CCAAAAAGCTTTTCATCTCTGCAGGGGGAAAACTGTCTAGT Direct Gain 0 0.873981995742306 Functional Gain 0.873981995742306 - RAB7A ENSG00000075785 UTR3 Human protein_coding chr3:128533128 chr3:128533128 . . 0 21 hm7G_associated_SNPs_368 1 Likely benign Charcot-Marie-Tooth, Type 2 RCV000380515.1
17 chr4 57356588 57356588 1 + A G rs17086879 57356588 + 57356568 57356608 41 AAGGAGGCAATTAGTGACCTACAACAGCTGTGGAAGTAAGC AAGGAGGCAATTAGTGACCTGCAACAGCTGTGGAAGTAAGC Direct Gain 0 0.922850017409169 Functional Gain 0.922850017409169 - SRP72 ENSG00000174780 CDS Human protein_coding chr4:57356588 chr4:57356588 synonymous SNV . 0 21 hm7G_associated_SNPs_376 1 Benign Bone marrow failure syndrome 1 RCV000401507.1
18 chr4 57361553 57361553 1 + A G rs34419325 57361553 + 57361533 57361573 41 TTGAAAAAGAAGAAAAAGAAAAAGAAGGGTAAGGCATTAAA TTGAAAAAGAAGAAAAAGAAGAAGAAGGGTAAGGCATTAAA Direct Gain 0 0.898572271837285 Functional Gain 0.898572271837285 - SRP72 ENSG00000174780 CDS Human protein_coding chr4:57361553 chr4:57361553 synonymous SNV . 0 21 hm7G_associated_SNPs_377 1 Benign Bone marrow failure syndrome 1 RCV000304944.1
19 chr4 108935600 108935600 1 + T G rs61735992 108935600 + 108935580 108935620 41 GCATTAGGCCGGCGATGAATTTGTGGAGAAGACCCTGAGCA GCATTAGGCCGGCGATGAATGTGTGGAGAAGACCCTGAGCA Direct Gain 0 0.890156927280014 Functional Gain 0.890156927280014 - HADH ENSG00000138796 CDS Human protein_coding chr4:108935600 chr4:108935600 nonsynonymous SNV 0.925 4 21 hm7G_associated_SNPs_378 2 Uncertain significance not specified RCV000193662.1
20 chr4 108935600 108935600 1 + T G rs61735992 108935600 + 108935580 108935620 41 GCATTAGGCCGGCGATGAATTTGTGGAGAAGACCCTGAGCA GCATTAGGCCGGCGATGAATGTGTGGAGAAGACCCTGAGCA Direct Gain 0 0.890156927280014 Functional Gain 0.890156927280014 - HADH ENSG00000138796 CDS Human protein_coding chr4:108935600 chr4:108935600 nonsynonymous SNV 0.925 4 21 hm7G_associated_SNPs_378 2 other not provided RCV000224208.1
21 chr5 7870973 7870973 1 + A G rs1801394 7870973 + 7870953 7870993 41 AAGGCCATCGCAGAAGAAATATGTGAGCAAGCTGTGGTACA AAGGCCATCGCAGAAGAAATGTGTGAGCAAGCTGTGGTACA Direct Gain 0 0.847193951806047 Functional Gain 0.847193951806047 - MTRR ENSG00000124275 CDS Human protein_coding chr5:7870973 chr5:7870973 nonsynonymous SNV 0.996 3 21 hm7G_associated_SNPs_383 6 other Neural tube defects, folate-sensitive, susceptibility to RCV000007444.2
22 chr5 7870973 7870973 1 + A G rs1801394 7870973 + 7870953 7870993 41 AAGGCCATCGCAGAAGAAATATGTGAGCAAGCTGTGGTACA AAGGCCATCGCAGAAGAAATGTGTGAGCAAGCTGTGGTACA Direct Gain 0 0.847193951806047 Functional Gain 0.847193951806047 - MTRR ENSG00000124275 CDS Human protein_coding chr5:7870973 chr5:7870973 nonsynonymous SNV 0.996 3 21 hm7G_associated_SNPs_383 6 other Down syndrome, susceptibility to RCV000007445.2
23 chr5 7870973 7870973 1 + A G rs1801394 7870973 + 7870953 7870993 41 AAGGCCATCGCAGAAGAAATATGTGAGCAAGCTGTGGTACA AAGGCCATCGCAGAAGAAATGTGTGAGCAAGCTGTGGTACA Direct Gain 0 0.847193951806047 Functional Gain 0.847193951806047 - MTRR ENSG00000124275 CDS Human protein_coding chr5:7870973 chr5:7870973 nonsynonymous SNV 0.996 3 21 hm7G_associated_SNPs_383 6 Benign not specified RCV000126873.4
24 chr5 7870973 7870973 1 + A G rs1801394 7870973 + 7870953 7870993 41 AAGGCCATCGCAGAAGAAATATGTGAGCAAGCTGTGGTACA AAGGCCATCGCAGAAGAAATGTGTGAGCAAGCTGTGGTACA Direct Gain 0 0.847193951806047 Functional Gain 0.847193951806047 - MTRR ENSG00000124275 CDS Human protein_coding chr5:7870973 chr5:7870973 nonsynonymous SNV 0.996 3 21 hm7G_associated_SNPs_383 6 Uncertain significance Gastrointestinal stromal tumor RCV000144926.1
25 chr5 7870973 7870973 1 + A G rs1801394 7870973 + 7870953 7870993 41 AAGGCCATCGCAGAAGAAATATGTGAGCAAGCTGTGGTACA AAGGCCATCGCAGAAGAAATGTGTGAGCAAGCTGTGGTACA Direct Gain 0 0.847193951806047 Functional Gain 0.847193951806047 - MTRR ENSG00000124275 CDS Human protein_coding chr5:7870973 chr5:7870973 nonsynonymous SNV 0.996 3 21 hm7G_associated_SNPs_383 6 drug response methotrexate response - Toxicity/ADR RCV000211244.1
26 chr5 7870973 7870973 1 + A G rs1801394 7870973 + 7870953 7870993 41 AAGGCCATCGCAGAAGAAATATGTGAGCAAGCTGTGGTACA AAGGCCATCGCAGAAGAAATGTGTGAGCAAGCTGTGGTACA Direct Gain 0 0.847193951806047 Functional Gain 0.847193951806047 - MTRR ENSG00000124275 CDS Human protein_coding chr5:7870973 chr5:7870973 nonsynonymous SNV 0.996 3 21 hm7G_associated_SNPs_383 6 Benign Disorders of Intracellular Cobalamin Metabolism RCV000264714.1
27 chr5 7885959 7885959 1 + A G rs162036 7885959 + 7885939 7885979 41 GAAAATAAAGGCAGACACAAAGAAGAAAGGTAACAGCCCTG GAAAATAAAGGCAGACACAAGGAAGAAAGGTAACAGCCCTG Direct Gain 0 0.885618662207467 Functional Gain 0.885618662207467 - MTRR ENSG00000124275 CDS Human protein_coding chr5:7885959 chr5:7885959 nonsynonymous SNV 0.975 0 21 hm7G_associated_SNPs_385 3 Benign not specified RCV000126870.2
28 chr5 7885959 7885959 1 + A G rs162036 7885959 + 7885939 7885979 41 GAAAATAAAGGCAGACACAAAGAAGAAAGGTAACAGCCCTG GAAAATAAAGGCAGACACAAGGAAGAAAGGTAACAGCCCTG Direct Gain 0 0.885618662207467 Functional Gain 0.885618662207467 - MTRR ENSG00000124275 CDS Human protein_coding chr5:7885959 chr5:7885959 nonsynonymous SNV 0.975 0 21 hm7G_associated_SNPs_385 3 Uncertain significance Gastrointestinal stromal tumor RCV000144925.1
29 chr5 7885959 7885959 1 + A G rs162036 7885959 + 7885939 7885979 41 GAAAATAAAGGCAGACACAAAGAAGAAAGGTAACAGCCCTG GAAAATAAAGGCAGACACAAGGAAGAAAGGTAACAGCCCTG Direct Gain 0 0.885618662207467 Functional Gain 0.885618662207467 - MTRR ENSG00000124275 CDS Human protein_coding chr5:7885959 chr5:7885959 nonsynonymous SNV 0.975 0 21 hm7G_associated_SNPs_385 3 Benign Disorders of Intracellular Cobalamin Metabolism RCV000317483.1
30 chr5 7892933 7892933 1 + A G rs35890938 7892933 + 7892913 7892953 41 GAGGTTCTGCGGAAGGGAGTATGTACAGGCTGGCTGGCCTT GAGGTTCTGCGGAAGGGAGTGTGTACAGGCTGGCTGGCCTT Direct Gain 0 0.908006598609767 Functional Gain 0.908006598609767 - MTRR ENSG00000124275 CDS Human protein_coding chr5:7892933 chr5:7892933 synonymous SNV . 0 21 hm7G_associated_SNPs_386 1 Benign not specified RCV000126876.2
31 chr9 131360750 131360750 1 + C G rs2227864 131360750 + 131360730 131360770 41 GACCTGGAGTCTGAAGGTCTCATGGCAGAGGAGGTGCAGGC GACCTGGAGTCTGAAGGTCTGATGGCAGAGGAGGTGCAGGC Direct Gain 0 0.873543874801312 Functional Gain 0.873543874801312 - SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131360750 chr9:131360750 synonymous SNV . 0 21 hm7G_associated_SNPs_429 1 Benign not specified RCV000147625.1
32 chr11 18424487 18424487 1 + A G rs4820 18424487 + 18424467 18424507 41 TCAGCCCGATTCCGTTACCTAATGGGGGAAAGGCTGGGAGT TCAGCCCGATTCCGTTACCTGATGGGGGAAAGGCTGGGAGT Direct Gain 0 0.97152818864329 Functional Gain 0.97152818864329 - LDHA ENSG00000134333 CDS Human protein_coding chr11:18424487 chr11:18424487 synonymous SNV . 0 21 hm7G_associated_SNPs_443 2 Benign Glycogen storage disease XI RCV000311842.1
33 chr11 18424487 18424487 1 + A G rs4820 18424487 + 18424467 18424507 41 TCAGCCCGATTCCGTTACCTAATGGGGGAAAGGCTGGGAGT TCAGCCCGATTCCGTTACCTGATGGGGGAAAGGCTGGGAGT Direct Gain 0 0.97152818864329 Functional Gain 0.97152818864329 - LDHA ENSG00000134333 CDS Human protein_coding chr11:18424487 chr11:18424487 synonymous SNV . 0 21 hm7G_associated_SNPs_443 2 Benign not specified RCV000437558.1
34 chr11 65769988 65769988 1 + T G rs35208625 65769988 + 65769968 65770008 41 AGTTCTAGTGGCTTGAGGTATCCGCAGGAGCGGCCGGGTGG AGTTCTAGTGGCTTGAGGTAGCCGCAGGAGCGGCCGGGTGG Direct Gain 0 0.858892754416272 Functional Gain 0.858892754416272 - BANF1 ENSG00000175334 UTR5 Human protein_coding chr11:65769988 chr11:65769988 . . 0 21 hm7G_associated_SNPs_452 1 Uncertain significance Nestor-Guillermo progeria syndrome RCV000350471.1
35 chr16 31191482 31191482 1 + A G rs929867 31191482 + 31191462 31191502 41 TCAGTCCTCCAGGCGTCGGTACTCAGCGGTGTTGGAACTTC TCAGTCCTCCAGGCGTCGGTGCTCAGCGGTGTTGGAACTTC Direct Gain 0 0.863099199442447 Functional Gain 0.863099199442447 - FUS ENSG00000089280 UTR5 Human protein_coding chr16:31191482 chr16:31191482 . . 0 21 hm7G_associated_SNPs_523 1 Benign Amyotrophic Lateral Sclerosis, Dominant RCV000307180.1
36 chr17 71189182 71189182 1 + A G rs3764359 71189182 + 71189162 71189202 41 GGGACTAAAAGGGCGTAGGTAGATCGCCGGGGGCTGACGAG GGGACTAAAAGGGCGTAGGTGGATCGCCGGGGGCTGACGAG Direct Gain 0 0.858856341307111 Functional Gain 0.858856341307111 - COG1 ENSG00000264860 ncRNA_intronic Human processed_transcript chr17:71189182 chr17:71189182 . . 0 21 hm7G_associated_SNPs_540 1 Benign Congenital disorder of glycosylation RCV000310547.1
37 chr19 36149516 36149516 1 + A G rs116118827 36149516 + 36149496 36149536 41 GTCACAGACTGGGATGAGCAACGGGCTGAAGGCACGTTTCC GTCACAGACTGGGATGAGCAGCGGGCTGAAGGCACGTTTCC Direct Gain 0 0.861761686047112 Functional Gain 0.861761686047112 - COX6B1 ENSG00000126267 CDS Human protein_coding chr19:36149516 chr19:36149516 synonymous SNV . 0 21 hm7G_associated_SNPs_560 1 Benign not specified RCV000124586.1
38 chr19 39200901 39200901 1 + C G rs34491236 39200901 + 39200881 39200921 41 TGTTGTTCACTTGCAGACATCGTGAACACGGCCCGGCCCGA TGTTGTTCACTTGCAGACATGGTGAACACGGCCCGGCCCGA Direct Gain 0 0.912361450053519 Functional Gain 0.912361450053519 - ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39200901 chr19:39200901 nonsynonymous SNV 0.997 2 21 hm7G_associated_SNPs_562 1 Uncertain significance not specified RCV000434975.1
39 chr22 44328930 44328930 1 + A G rs143392071 44328930 + 44328910 44328950 41 CCTCTGCACAGGGAACCTCTACCTTCTCTCGAGAGCTTTTG CCTCTGCACAGGGAACCTCTGCCTTCTCTCGAGAGCTTTTG Direct Gain 0 0.853395677832199 Functional Gain 0.853395677832199 - PNPLA3 ENSG00000100344 CDS Human protein_coding chr22:44328930 chr22:44328930 nonsynonymous SNV 0.007 2 21 hm7G_associated_SNPs_597 1 Uncertain significance Susceptibility to Nonalcoholic Fatty Liver Disease RCV000360539.1
40 chr12 12871765 12871765 1 + C G BLCA 12871765 + 12871745 12871785 41 TCCCCTGCGCTTAGATTCTTCTACTCAAAACAAAAGAGCCA TCCCCTGCGCTTAGATTCTTGTACTCAAAACAAAAGAGCCA Direct Gain 0 0.884161386286889 Functional Gain 0.884161386286889 - CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12871765 chr12:12871765 nonsynonymous SNV 0.981 0 21 hm7G_associated_SNPs_729 3 Uncertain significance Multiple endocrine neoplasia, type 4 RCV000227030.2
41 chr12 12871765 12871765 1 + C G BLCA 12871765 + 12871745 12871785 41 TCCCCTGCGCTTAGATTCTTCTACTCAAAACAAAAGAGCCA TCCCCTGCGCTTAGATTCTTGTACTCAAAACAAAAGAGCCA Direct Gain 0 0.884161386286889 Functional Gain 0.884161386286889 - CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12871765 chr12:12871765 nonsynonymous SNV 0.981 0 21 hm7G_associated_SNPs_729 3 Likely benign Multiple endocrine neoplasia RCV000353614.1
42 chr12 12871765 12871765 1 + C G BLCA 12871765 + 12871745 12871785 41 TCCCCTGCGCTTAGATTCTTCTACTCAAAACAAAAGAGCCA TCCCCTGCGCTTAGATTCTTGTACTCAAAACAAAAGAGCCA Direct Gain 0 0.884161386286889 Functional Gain 0.884161386286889 - CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12871765 chr12:12871765 nonsynonymous SNV 0.981 0 21 hm7G_associated_SNPs_729 3 Uncertain significance not specified RCV000422614.1
43 chr2 47630504 47630504 1 + C G CESC 47630504 + 47630484 47630524 41 CTGGCCGCCCGGGAGGTGTTCAAGACCCAGGGGGTGATCAA CTGGCCGCCCGGGAGGTGTTGAAGACCCAGGGGGTGATCAA Direct Gain 0 0.871056301029733 Functional Gain 0.871056301029733 - MSH2 ENSG00000095002 CDS Human protein_coding chr2:47630504 chr2:47630504 nonsynonymous SNV 1.000 5 21 hm7G_associated_SNPs_921 2 Uncertain significance Lynch syndrome RCV000470314.1
44 chr2 47630504 47630504 1 + C G CESC 47630504 + 47630484 47630524 41 CTGGCCGCCCGGGAGGTGTTCAAGACCCAGGGGGTGATCAA CTGGCCGCCCGGGAGGTGTTGAAGACCCAGGGGGTGATCAA Direct Gain 0 0.871056301029733 Functional Gain 0.871056301029733 - MSH2 ENSG00000095002 CDS Human protein_coding chr2:47630504 chr2:47630504 nonsynonymous SNV 1.000 5 21 hm7G_associated_SNPs_921 2 Uncertain significance Hereditary cancer-predisposing syndrome RCV000491232.1
45 chr3 10188215 10188215 1 + A G KIRC 10188215 + 10188195 10188235 41 TAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGAT TAGGTCACCTTTGGCTCTTCGGAGATGCAGGGACACACGAT Direct Gain 0 0.871382944497522 Functional Gain 0.871382944497522 - VHL ENSG00000134086 CDS Human protein_coding chr3:10188215 chr3:10188215 nonsynonymous SNV 0.996 4 21 hm7G_associated_SNPs_1170 1 Likely pathogenic Von Hippel-Lindau syndrome RCV000208800.1
46 chr19 52715971 52715971 1 + C G OV 52715971 + 52715951 52715991 41 CCTGTGCTCAGATGACACCCCCATGGTGCGGCGGGCCGCAG CCTGTGCTCAGATGACACCCGCATGGTGCGGCGGGCCGCAG Direct Gain 0 0.894861104516233 Functional Gain 0.894861104516233 - PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715971 chr19:52715971 nonsynonymous SNV 1.000 4 21 hm7G_associated_SNPs_1524 2 Likely pathogenic Uterine Carcinosarcoma RCV000433795.1
47 chr19 52715971 52715971 1 + C G OV 52715971 + 52715951 52715991 41 CCTGTGCTCAGATGACACCCCCATGGTGCGGCGGGCCGCAG CCTGTGCTCAGATGACACCCGCATGGTGCGGCGGGCCGCAG Direct Gain 0 0.894861104516233 Functional Gain 0.894861104516233 - PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715971 chr19:52715971 nonsynonymous SNV 1.000 4 21 hm7G_associated_SNPs_1524 2 Likely pathogenic Malignant neoplasm of body of uterus RCV000444299.1
48 chr2 47690264 47690264 1 + C G UCEC 47690264 + 47690244 47690284 41 CTTGGAAAAGAAGATGCAGTCAACATTAATAAGTGCAGCCA CTTGGAAAAGAAGATGCAGTGAACATTAATAAGTGCAGCCA Direct Gain 0 0.84142547019005 Functional Gain 0.84142547019005 - MSH2 ENSG00000095002 CDS Human protein_coding chr2:47690264 chr2:47690264 stopgain 0.999 1 21 hm7G_associated_SNPs_1755 1 Likely pathogenic not provided RCV000202035.1
49 chr5 224487 224487 1 + T C rs142926807 224487 - 224467 224507 41 TTCATGATCCACTACTGGATACTGAGCAGAAATCTGGAAAA TTCATGATCCACTACTGGATGCTGAGCAGAAATCTGGAAAA Direct Gain 0 0.87199777145785 Functional Gain 0.87199777145785 - SDHA ENSG00000073578 CDS Human protein_coding chr5:224487 chr5:224487 nonsynonymous SNV 0.999 1 21 hm7G_associated_SNPs_2005 5 Likely benign Pheochromocytoma RCV000303103.1
50 chr5 224487 224487 1 + T C rs142926807 224487 - 224467 224507 41 TTCATGATCCACTACTGGATACTGAGCAGAAATCTGGAAAA TTCATGATCCACTACTGGATGCTGAGCAGAAATCTGGAAAA Direct Gain 0 0.87199777145785 Functional Gain 0.87199777145785 - SDHA ENSG00000073578 CDS Human protein_coding chr5:224487 chr5:224487 nonsynonymous SNV 0.999 1 21 hm7G_associated_SNPs_2005 5 Likely benign Leigh syndrome RCV000360177.1
51 chr5 224487 224487 1 + T C rs142926807 224487 - 224467 224507 41 TTCATGATCCACTACTGGATACTGAGCAGAAATCTGGAAAA TTCATGATCCACTACTGGATGCTGAGCAGAAATCTGGAAAA Direct Gain 0 0.87199777145785 Functional Gain 0.87199777145785 - SDHA ENSG00000073578 CDS Human protein_coding chr5:224487 chr5:224487 nonsynonymous SNV 0.999 1 21 hm7G_associated_SNPs_2005 5 Likely benign Mitochondrial complex II deficiency RCV000399750.1
52 chr5 224487 224487 1 + T C rs142926807 224487 - 224467 224507 41 TTCATGATCCACTACTGGATACTGAGCAGAAATCTGGAAAA TTCATGATCCACTACTGGATGCTGAGCAGAAATCTGGAAAA Direct Gain 0 0.87199777145785 Functional Gain 0.87199777145785 - SDHA ENSG00000073578 CDS Human protein_coding chr5:224487 chr5:224487 nonsynonymous SNV 0.999 1 21 hm7G_associated_SNPs_2005 5 Benign Mitochondrial complex II deficiency RCV000464569.1
53 chr5 224487 224487 1 + T C rs142926807 224487 - 224467 224507 41 TTCATGATCCACTACTGGATACTGAGCAGAAATCTGGAAAA TTCATGATCCACTACTGGATGCTGAGCAGAAATCTGGAAAA Direct Gain 0 0.87199777145785 Functional Gain 0.87199777145785 - SDHA ENSG00000073578 CDS Human protein_coding chr5:224487 chr5:224487 nonsynonymous SNV 0.999 1 21 hm7G_associated_SNPs_2005 5 Benign Paragangliomas 5 RCV000464569.1
54 chr6 7585686 7585686 1 + T C rs201397978 7585686 - 7585666 7585706 41 AACAAGACCTCCCGTGAGGTACTGGAACTCCAGGAAGCGCT AACAAGACCTCCCGTGAGGTGCTGGAACTCCAGGAAGCGCT Direct Gain 0 0.879162200787968 Functional Gain 0.879162200787968 - DSP ENSG00000096696 CDS Human protein_coding chr6:7585686 chr6:7585686 nonsynonymous SNV 0.998 3 21 hm7G_associated_SNPs_2008 8 other not specified RCV000150582.2
55 chr6 7585686 7585686 1 + T C rs201397978 7585686 - 7585666 7585706 41 AACAAGACCTCCCGTGAGGTACTGGAACTCCAGGAAGCGCT AACAAGACCTCCCGTGAGGTGCTGGAACTCCAGGAAGCGCT Direct Gain 0 0.879162200787968 Functional Gain 0.879162200787968 - DSP ENSG00000096696 CDS Human protein_coding chr6:7585686 chr6:7585686 nonsynonymous SNV 0.998 3 21 hm7G_associated_SNPs_2008 8 Likely benign not provided RCV000172545.3
56 chr6 7585686 7585686 1 + T C rs201397978 7585686 - 7585666 7585706 41 AACAAGACCTCCCGTGAGGTACTGGAACTCCAGGAAGCGCT AACAAGACCTCCCGTGAGGTGCTGGAACTCCAGGAAGCGCT Direct Gain 0 0.879162200787968 Functional Gain 0.879162200787968 - DSP ENSG00000096696 CDS Human protein_coding chr6:7585686 chr6:7585686 nonsynonymous SNV 0.998 3 21 hm7G_associated_SNPs_2008 8 Likely benign Ectodermal dysplasia skin fragility syndrome RCV000259603.1
57 chr6 7585686 7585686 1 + T C rs201397978 7585686 - 7585666 7585706 41 AACAAGACCTCCCGTGAGGTACTGGAACTCCAGGAAGCGCT AACAAGACCTCCCGTGAGGTGCTGGAACTCCAGGAAGCGCT Direct Gain 0 0.879162200787968 Functional Gain 0.879162200787968 - DSP ENSG00000096696 CDS Human protein_coding chr6:7585686 chr6:7585686 nonsynonymous SNV 0.998 3 21 hm7G_associated_SNPs_2008 8 Likely benign Skin fragility woolly hair syndrome RCV000299334.1
58 chr6 7585686 7585686 1 + T C rs201397978 7585686 - 7585666 7585706 41 AACAAGACCTCCCGTGAGGTACTGGAACTCCAGGAAGCGCT AACAAGACCTCCCGTGAGGTGCTGGAACTCCAGGAAGCGCT Direct Gain 0 0.879162200787968 Functional Gain 0.879162200787968 - DSP ENSG00000096696 CDS Human protein_coding chr6:7585686 chr6:7585686 nonsynonymous SNV 0.998 3 21 hm7G_associated_SNPs_2008 8 Likely benign Epidermolysis bullosa, lethal acantholytic RCV000356762.1
59 chr6 7585686 7585686 1 + T C rs201397978 7585686 - 7585666 7585706 41 AACAAGACCTCCCGTGAGGTACTGGAACTCCAGGAAGCGCT AACAAGACCTCCCGTGAGGTGCTGGAACTCCAGGAAGCGCT Direct Gain 0 0.879162200787968 Functional Gain 0.879162200787968 - DSP ENSG00000096696 CDS Human protein_coding chr6:7585686 chr6:7585686 nonsynonymous SNV 0.998 3 21 hm7G_associated_SNPs_2008 8 Likely benign Cardiomyopathy, ARVC RCV000407212.1
60 chr6 7585686 7585686 1 + T C rs201397978 7585686 - 7585666 7585706 41 AACAAGACCTCCCGTGAGGTACTGGAACTCCAGGAAGCGCT AACAAGACCTCCCGTGAGGTGCTGGAACTCCAGGAAGCGCT Direct Gain 0 0.879162200787968 Functional Gain 0.879162200787968 - DSP ENSG00000096696 CDS Human protein_coding chr6:7585686 chr6:7585686 nonsynonymous SNV 0.998 3 21 hm7G_associated_SNPs_2008 8 Benign Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000465886.1
61 chr6 7585686 7585686 1 + T C rs201397978 7585686 - 7585666 7585706 41 AACAAGACCTCCCGTGAGGTACTGGAACTCCAGGAAGCGCT AACAAGACCTCCCGTGAGGTGCTGGAACTCCAGGAAGCGCT Direct Gain 0 0.879162200787968 Functional Gain 0.879162200787968 - DSP ENSG00000096696 CDS Human protein_coding chr6:7585686 chr6:7585686 nonsynonymous SNV 0.998 3 21 hm7G_associated_SNPs_2008 8 Benign Cardiomyopathy dilated with woolly hair and keratoderma RCV000465886.1
62 chr20 35826857 35826857 1 + T C rs146315738 35826857 - 35826837 35826877 41 CTGGCTGGCCTGGGCAGCGTAGAAGAGGGAATCCACATTGC CTGGCTGGCCTGGGCAGCGTGGAAGAGGGAATCCACATTGC Direct Gain 0 0.882700542766744 Functional Gain 0.882700542766744 - RPN2 ENSG00000118705 CDS Human protein_coding chr20:35826857 chr20:35826857 nonsynonymous SNV 0.875 1 21 hm7G_associated_SNPs_2020 1 Benign not specified RCV000177167.1
63 chr1 24019194 24019194 1 + G A rs199772693 24019194 + 24019174 24019214 41 GAGAGTGGAGACAGACTGACGCGAGCAGCCAAGGTGTTGGA GAGAGTGGAGACAGACTGACACGAGCAGCCAAGGTGTTGGA Direct Loss 0.871883785747316 0 Functional Loss -0.871883785747316 - RPL11 ENSG00000142676 CDS Human protein_coding chr1:24019194 chr1:24019194 synonymous SNV . 0 21 hm7G_associated_SNPs_2398 1 Uncertain significance Diamond-Blackfan anemia RCV000381936.1
64 chr1 26764735 26764735 1 + G A rs149949619 26764735 + 26764715 26764755 41 CAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGG CAAGAAGTGCCAGGTGGAGCAGCAGGAAGGCCACTCACAGG Direct Loss 0.814763103888288 0 Functional Loss -0.814763103888288 - DHDDS ENSG00000117682 CDS Human protein_coding chr1:26764735 chr1:26764735 nonsynonymous SNV 0.997 1 21 hm7G_associated_SNPs_2400 2 Likely benign not specified RCV000297294.1
65 chr1 26764735 26764735 1 + G A rs149949619 26764735 + 26764715 26764755 41 CAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGG CAAGAAGTGCCAGGTGGAGCAGCAGGAAGGCCACTCACAGG Direct Loss 0.814763103888288 0 Functional Loss -0.814763103888288 - DHDDS ENSG00000117682 CDS Human protein_coding chr1:26764735 chr1:26764735 nonsynonymous SNV 0.997 1 21 hm7G_associated_SNPs_2400 2 Uncertain significance Retinitis Pigmentosa, Recessive RCV000322201.1
66 chr1 154247435 154247435 1 + G A rs141970914 154247435 + 154247415 154247455 41 TTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCAT TTCTTCTGCAGTTTGATGATATATGGCCTATGGACCCCCAT Direct Loss 0.836870829262154 0 Functional Loss -0.836870829262154 - HAX1 ENSG00000143575 CDS Human protein_coding chr1:154247435 chr1:154247435 nonsynonymous SNV 0.424 0 21 hm7G_associated_SNPs_2417 2 not provided not provided RCV000059079.1
67 chr1 154247435 154247435 1 + G A rs141970914 154247435 + 154247415 154247455 41 TTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCAT TTCTTCTGCAGTTTGATGATATATGGCCTATGGACCCCCAT Direct Loss 0.836870829262154 0 Functional Loss -0.836870829262154 - HAX1 ENSG00000143575 CDS Human protein_coding chr1:154247435 chr1:154247435 nonsynonymous SNV 0.424 0 21 hm7G_associated_SNPs_2417 2 Likely benign not specified RCV000247277.1
68 chr1 156105772 156105772 1 + G A rs17847242 156105772 + 156105752 156105792 41 ACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGC ACCAGCCGGCGGCTGCTGGCAGAAAAGGAGCGGGAGATGGC Direct Loss 0.82526314461373 0 Functional Loss -0.82526314461373 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156105772 chr1:156105772 synonymous SNV . 0 21 hm7G_associated_SNPs_2419 4 Uncertain significance not provided RCV000172001.1
69 chr1 156105772 156105772 1 + G A rs17847242 156105772 + 156105752 156105792 41 ACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGC ACCAGCCGGCGGCTGCTGGCAGAAAAGGAGCGGGAGATGGC Direct Loss 0.82526314461373 0 Functional Loss -0.82526314461373 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156105772 chr1:156105772 synonymous SNV . 0 21 hm7G_associated_SNPs_2419 4 Likely benign Cardiovascular phenotype RCV000244350.1
70 chr1 156105772 156105772 1 + G A rs17847242 156105772 + 156105752 156105792 41 ACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGC ACCAGCCGGCGGCTGCTGGCAGAAAAGGAGCGGGAGATGGC Direct Loss 0.82526314461373 0 Functional Loss -0.82526314461373 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156105772 chr1:156105772 synonymous SNV . 0 21 hm7G_associated_SNPs_2419 4 Likely benign not specified RCV000276961.3
71 chr1 156105772 156105772 1 + G A rs17847242 156105772 + 156105752 156105792 41 ACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGC ACCAGCCGGCGGCTGCTGGCAGAAAAGGAGCGGGAGATGGC Direct Loss 0.82526314461373 0 Functional Loss -0.82526314461373 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156105772 chr1:156105772 synonymous SNV . 0 21 hm7G_associated_SNPs_2419 4 Benign Charcot-Marie-Tooth disease, type 2 RCV000458299.1
72 chr2 228197238 228197238 1 + G A rs11557342 228197238 + 228197218 228197258 41 ACACCACCTCGTGTACTTACGCTGAGTGAAAGACCACTAGA ACACCACCTCGTGTACTTACACTGAGTGAAAGACCACTAGA Direct Loss 0.815352600899706 0 Functional Loss -0.815352600899706 - MFF ENSG00000168958 CDS Human protein_coding chr2:228197238 chr2:228197238 synonymous SNV . 0 21 hm7G_associated_SNPs_2441 1 Benign not specified RCV000423986.1
73 chr5 233687 233687 1 + G A rs200526913 233687 + 233667 233707 41 AAAGGTTTATGGAGCGATACGCCCCTGTCGCGAAGGACCTG AAAGGTTTATGGAGCGATACACCCCTGTCGCGAAGGACCTG Direct Loss 0.871897076919097 0 Functional Loss -0.871897076919097 - SDHA ENSG00000073578 CDS Human protein_coding chr5:233687 chr5:233687 nonsynonymous SNV 0.827 3 21 hm7G_associated_SNPs_2456 2 Uncertain significance Mitochondrial complex II deficiency RCV000239369.2
74 chr5 233687 233687 1 + G A rs200526913 233687 + 233667 233707 41 AAAGGTTTATGGAGCGATACGCCCCTGTCGCGAAGGACCTG AAAGGTTTATGGAGCGATACACCCCTGTCGCGAAGGACCTG Direct Loss 0.871897076919097 0 Functional Loss -0.871897076919097 - SDHA ENSG00000073578 CDS Human protein_coding chr5:233687 chr5:233687 nonsynonymous SNV 0.827 3 21 hm7G_associated_SNPs_2456 2 Uncertain significance Paragangliomas 5 RCV000239369.2
75 chr11 67376962 67376962 1 + G A rs140445386 67376962 + 67376942 67376982 41 AACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGA AACGCAGACGAGGGGGAGCCAGGCACCTGCAAGGACCGGGA Direct Loss 0.863852856379425 0 Functional Loss -0.863852856379425 - NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67376962 chr11:67376962 synonymous SNV . 0 21 hm7G_associated_SNPs_2529 3 Uncertain significance Mitochondrial complex I deficiency RCV000275192.1
76 chr11 67376962 67376962 1 + G A rs140445386 67376962 + 67376942 67376982 41 AACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGA AACGCAGACGAGGGGGAGCCAGGCACCTGCAAGGACCGGGA Direct Loss 0.863852856379425 0 Functional Loss -0.863852856379425 - NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67376962 chr11:67376962 synonymous SNV . 0 21 hm7G_associated_SNPs_2529 3 Uncertain significance Leigh syndrome RCV000367341.1
77 chr11 67376962 67376962 1 + G A rs140445386 67376962 + 67376942 67376982 41 AACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGA AACGCAGACGAGGGGGAGCCAGGCACCTGCAAGGACCGGGA Direct Loss 0.863852856379425 0 Functional Loss -0.863852856379425 - NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67376962 chr11:67376962 synonymous SNV . 0 21 hm7G_associated_SNPs_2529 3 Benign not specified RCV000444047.1
78 chr12 12870938 12870938 1 + G A rs16908375 12870938 + 12870918 12870958 41 TGCAGAGACATGGAAGAGGCGAGCCAGCGCAAGTGGAATTT TGCAGAGACATGGAAGAGGCAAGCCAGCGCAAGTGGAATTT Direct Loss 0.820238546547355 0 Functional Loss -0.820238546547355 - CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12870938 chr12:12870938 synonymous SNV . 0 21 hm7G_associated_SNPs_2539 3 Benign Multiple endocrine neoplasia, type 4 RCV000226150.2
79 chr12 12870938 12870938 1 + G A rs16908375 12870938 + 12870918 12870958 41 TGCAGAGACATGGAAGAGGCGAGCCAGCGCAAGTGGAATTT TGCAGAGACATGGAAGAGGCAAGCCAGCGCAAGTGGAATTT Direct Loss 0.820238546547355 0 Functional Loss -0.820238546547355 - CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12870938 chr12:12870938 synonymous SNV . 0 21 hm7G_associated_SNPs_2539 3 Benign not specified RCV000253639.1
80 chr12 12870938 12870938 1 + G A rs16908375 12870938 + 12870918 12870958 41 TGCAGAGACATGGAAGAGGCGAGCCAGCGCAAGTGGAATTT TGCAGAGACATGGAAGAGGCAAGCCAGCGCAAGTGGAATTT Direct Loss 0.820238546547355 0 Functional Loss -0.820238546547355 - CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12870938 chr12:12870938 synonymous SNV . 0 21 hm7G_associated_SNPs_2539 3 Benign Multiple endocrine neoplasia RCV000374063.1
81 chr14 96001624 96001624 1 + G A rs28680410 96001624 + 96001604 96001644 41 GGGACGCCGGAGCAGCCCCAGTGCGGCTTCAGCAACGCCGT GGGACGCCGGAGCAGCCCCAATGCGGCTTCAGCAACGCCGT Direct Loss 0.853918673061994 0 Functional Loss -0.853918673061994 - GLRX5 ENSG00000182512 CDS Human protein_coding chr14:96001624 chr14:96001624 synonymous SNV . 0 21 hm7G_associated_SNPs_2582 1 Benign not specified RCV000428387.1
82 chr16 21976762 21976762 1 + G A rs4850 21976762 + 21976742 21976782 41 TTTGCATGCAGCAGCTTACCGGAATGCCTTGGCTAATCCCT TTTGCATGCAGCAGCTTACCAGAATGCCTTGGCTAATCCCT Direct Loss 0.814944524264225 0 Functional Loss -0.814944524264225 - UQCRC2 ENSG00000140740 CDS Human protein_coding chr16:21976762 chr16:21976762 nonsynonymous SNV 0.992 1 21 hm7G_associated_SNPs_2597 1 Benign not specified RCV000428225.1
83 chr16 30081477 30081477 1 + G A rs138824667 30081477 + 30081457 30081497 41 AAGGAAAGTACACTCCGAGCGGTCAGGCTGGGGCTGCTGCC AAGGAAAGTACACTCCGAGCAGTCAGGCTGGGGCTGCTGCC Direct Loss 0.90061856108795 0 Functional Loss -0.90061856108795 - ALDOA ENSG00000149925 CDS Human protein_coding chr16:30081477 chr16:30081477 nonsynonymous SNV 0.649 1 21 hm7G_associated_SNPs_2599 2 Uncertain significance HNSHA due to aldolase A deficiency RCV000314539.1
84 chr16 30081477 30081477 1 + G A rs138824667 30081477 + 30081457 30081497 41 AAGGAAAGTACACTCCGAGCGGTCAGGCTGGGGCTGCTGCC AAGGAAAGTACACTCCGAGCAGTCAGGCTGGGGCTGCTGCC Direct Loss 0.90061856108795 0 Functional Loss -0.90061856108795 - ALDOA ENSG00000149925 CDS Human protein_coding chr16:30081477 chr16:30081477 nonsynonymous SNV 0.649 1 21 hm7G_associated_SNPs_2599 2 Uncertain significance not specified RCV000433379.1
85 chr17 4854392 4854392 1 + G A rs73343373 4854392 + 4854372 4854412 41 AGTGGCTCAGGGATAAATGCGCAGCCTGAGAGGGGGTGAGC AGTGGCTCAGGGATAAATGCACAGCCTGAGAGGGGGTGAGC Direct Loss 0.869183867624359 0 Functional Loss -0.869183867624359 - ENO3 ENSG00000108515 UTR5 Human protein_coding chr17:4854392 chr17:4854392 . . 0 21 hm7G_associated_SNPs_2605 1 Likely benign Glycogen storage disease type 13 RCV000390033.1
86 chr17 4859365 4859365 1 + G A rs61735456 4859365 + 4859345 4859385 41 CCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCAAC CCAAGAGGATTGCCCAGGCCATTGAGAAGAAGGCCTGCAAC Direct Loss 0.881976398124305 0 Functional Loss -0.881976398124305 - ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859365 chr17:4859365 nonsynonymous SNV 0.997 0 21 hm7G_associated_SNPs_2606 2 Likely benign Glycogen storage disease type 13 RCV000331457.1
87 chr17 4859365 4859365 1 + G A rs61735456 4859365 + 4859345 4859385 41 CCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCAAC CCAAGAGGATTGCCCAGGCCATTGAGAAGAAGGCCTGCAAC Direct Loss 0.881976398124305 0 Functional Loss -0.881976398124305 - ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859365 chr17:4859365 nonsynonymous SNV 0.997 0 21 hm7G_associated_SNPs_2606 2 Benign not specified RCV000432505.1
88 chr17 7128287 7128287 1 + G A rs79125791 7128287 + 7128267 7128307 41 TCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGC TCTCCCCAGGCTGCAGCTCGAATCCGAGAGGGCATGGCCGC Direct Loss 0.882387285748874 0 Functional Loss -0.882387285748874 - ACADVL ENSG00000072778 CDS Human protein_coding chr17:7128287 chr17:7128287 synonymous SNV . 0 21 hm7G_associated_SNPs_2607 2 Likely benign not specified RCV000243077.2
89 chr17 7128287 7128287 1 + G A rs79125791 7128287 + 7128267 7128307 41 TCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGC TCTCCCCAGGCTGCAGCTCGAATCCGAGAGGGCATGGCCGC Direct Loss 0.882387285748874 0 Functional Loss -0.882387285748874 - ACADVL ENSG00000072778 CDS Human protein_coding chr17:7128287 chr17:7128287 synonymous SNV . 0 21 hm7G_associated_SNPs_2607 2 Uncertain significance Very long chain acyl-CoA dehydrogenase deficiency RCV000360248.1
90 chr17 72759575 72759575 1 + G A rs119486097 72759575 + 72759555 72759595 41 CCATCAGGGCTGGCGGGGACGAGACCAAGCTGCTGGTGGTG CCATCAGGGCTGGCGGGGACAAGACCAAGCTGCTGGTGGTG Direct Loss 0.82496820873061 0 Functional Loss -0.82496820873061 - SLC9A3R1 ENSG00000109062 CDS Human protein_coding chr17:72759575 chr17:72759575 nonsynonymous SNV 0.740 3 21 hm7G_associated_SNPs_2629 2 Pathogenic Nephrolithiasis/osteoporosis, hypophosphatemic, 2 RCV000005590.2
91 chr17 72759575 72759575 1 + G A rs119486097 72759575 + 72759555 72759595 41 CCATCAGGGCTGGCGGGGACGAGACCAAGCTGCTGGTGGTG CCATCAGGGCTGGCGGGGACAAGACCAAGCTGCTGGTGGTG Direct Loss 0.82496820873061 0 Functional Loss -0.82496820873061 - SLC9A3R1 ENSG00000109062 CDS Human protein_coding chr17:72759575 chr17:72759575 nonsynonymous SNV 0.740 3 21 hm7G_associated_SNPs_2629 2 Likely benign not specified RCV000454997.1
92 chr19 12921149 12921149 1 + G A rs370225385 12921149 + 12921129 12921169 41 AGGTGGCCCGGGACCAGGCCGTGAAGAAATGGCAGTTCGTG AGGTGGCCCGGGACCAGGCCATGAAGAAATGGCAGTTCGTG Direct Loss 0.833368644089285 0 Functional Loss -0.833368644089285 - RNASEH2A ENSG00000104889 CDS Human protein_coding chr19:12921149 chr19:12921149 nonsynonymous SNV 0.975 4 21 hm7G_associated_SNPs_2648 1 Uncertain significance Aicardi Goutieres syndrome RCV000277514.1
93 chr19 39215193 39215193 1 + G A rs145474119 39215193 + 39215173 39215213 41 GTTGTGGGGCCCTGGATCCAGACCAAGATGGAGGTGAGGCA GTTGTGGGGCCCTGGATCCAAACCAAGATGGAGGTGAGGCA Direct Loss 0.868877860360644 0 Functional Loss -0.868877860360644 - ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39215193 chr19:39215193 synonymous SNV . 0 21 hm7G_associated_SNPs_2660 1 Benign not specified RCV000244115.1
94 chr22 24167513 24167513 1 + G A rs2229354 24167513 + 24167493 24167533 41 TTTGCCCTGAAGCTGTGCTCGGAGCTGGGGTTGGGCGGGGA TTTGCCCTGAAGCTGTGCTCAGAGCTGGGGTTGGGCGGGGA Direct Loss 0.857993635300844 0 Functional Loss -0.857993635300844 - SMARCB1 ENSG00000099956 CDS Human protein_coding chr22:24167513 chr22:24167513 synonymous SNV . 0 21 hm7G_associated_SNPs_2692 4 Benign not specified RCV000114311.3
95 chr22 24167513 24167513 1 + G A rs2229354 24167513 + 24167493 24167533 41 TTTGCCCTGAAGCTGTGCTCGGAGCTGGGGTTGGGCGGGGA TTTGCCCTGAAGCTGTGCTCAGAGCTGGGGTTGGGCGGGGA Direct Loss 0.857993635300844 0 Functional Loss -0.857993635300844 - SMARCB1 ENSG00000099956 CDS Human protein_coding chr22:24167513 chr22:24167513 synonymous SNV . 0 21 hm7G_associated_SNPs_2692 4 Benign Schwannomatosis RCV000272799.1
96 chr22 24167513 24167513 1 + G A rs2229354 24167513 + 24167493 24167533 41 TTTGCCCTGAAGCTGTGCTCGGAGCTGGGGTTGGGCGGGGA TTTGCCCTGAAGCTGTGCTCAGAGCTGGGGTTGGGCGGGGA Direct Loss 0.857993635300844 0 Functional Loss -0.857993635300844 - SMARCB1 ENSG00000099956 CDS Human protein_coding chr22:24167513 chr22:24167513 synonymous SNV . 0 21 hm7G_associated_SNPs_2692 4 Benign Coffin-Siris syndrome RCV000330196.1
97 chr22 24167513 24167513 1 + G A rs2229354 24167513 + 24167493 24167533 41 TTTGCCCTGAAGCTGTGCTCGGAGCTGGGGTTGGGCGGGGA TTTGCCCTGAAGCTGTGCTCAGAGCTGGGGTTGGGCGGGGA Direct Loss 0.857993635300844 0 Functional Loss -0.857993635300844 - SMARCB1 ENSG00000099956 CDS Human protein_coding chr22:24167513 chr22:24167513 synonymous SNV . 0 21 hm7G_associated_SNPs_2692 4 Benign Rhabdoid tumor RCV000368609.1
98 chr22 29881766 29881766 1 + G A rs201416955 29881766 + 29881746 29881786 41 ACACCAAGTGGGAGATGGCCGCCCAGCTGCGAGAATACCAG ACACCAAGTGGGAGATGGCCACCCAGCTGCGAGAATACCAG Direct Loss 0.829237537712141 0 Functional Loss -0.829237537712141 - NEFH ENSG00000100285 CDS Human protein_coding chr22:29881766 chr22:29881766 nonsynonymous SNV 0.986 2 21 hm7G_associated_SNPs_2695 1 not provided not provided RCV000057178.1
99 chr22 40760290 40760290 1 + G A rs192303222 40760290 + 40760270 40760310 41 TTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGC TTTCCTATAGGTAATTGAACAGCGCATTCGGCAAGAGCTGC Direct Loss 0.821531913694772 0 Functional Loss -0.821531913694772 - ADSL ENSG00000239900 CDS Human protein_coding chr22:40760290 chr22:40760290 nonsynonymous SNV 0.998 3 21 hm7G_associated_SNPs_2702 1 Uncertain significance not specified RCV000186687.3
100 chrX 153609158 153609158 1 + G C rs2070818 153609158 + 153609138 153609178 41 CTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAG CTTCTGAAGAGGAGTGCAAGCATAGGTGCGTAGTGGGGGAG Direct Loss 0.84470731667353 0 Functional Loss -0.84470731667353 - EMD ENSG00000102119 CDS Human protein_coding chrX:153609158 chrX:153609158 nonsynonymous SNV 0.952 3 21 hm7G_associated_SNPs_2706 1 Benign Emery-Dreifuss muscular dystrophy 1, X-linked RCV000230785.1
101 chr11 108010835 108010835 1 + G A COAD 108010835 + 108010815 108010855 41 AAAGAAGCTGAATATTGCACGAAATGAACAGGACGCTTATG AAAGAAGCTGAATATTGCACAAAATGAACAGGACGCTTATG Direct Loss 0.816068980647703 0 Functional Loss -0.816068980647703 - ACAT1 ENSG00000075239 CDS Human protein_coding chr11:108010835 chr11:108010835 nonsynonymous SNV 0.138 5 21 hm7G_associated_SNPs_3364 1 Uncertain significance Deficiency of acetyl-CoA acetyltransferase RCV000179698.1
102 chr15 45003747 45003747 1 + G A COAD 45003747 + 45003727 45003767 41 GACAGCATTCGGGCCGAGATGTCTCGCTCCGTGGCCTTAGC GACAGCATTCGGGCCGAGATATCTCGCTCCGTGGCCTTAGC Direct Loss 0.800085599250556 0 Functional Loss -0.800085599250556 - B2M ENSG00000166710 CDS Human protein_coding chr15:45003747 chr15:45003747 nonsynonymous SNV 0.061 1 21 hm7G_associated_SNPs_3484 10 Likely pathogenic Colorectal Neoplasms RCV000422802.1
103 chr15 45003747 45003747 1 + G A COAD 45003747 + 45003727 45003767 41 GACAGCATTCGGGCCGAGATGTCTCGCTCCGTGGCCTTAGC GACAGCATTCGGGCCGAGATATCTCGCTCCGTGGCCTTAGC Direct Loss 0.800085599250556 0 Functional Loss -0.800085599250556 - B2M ENSG00000166710 CDS Human protein_coding chr15:45003747 chr15:45003747 nonsynonymous SNV 0.061 1 21 hm7G_associated_SNPs_3484 10 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000423896.1
104 chr15 45003747 45003747 1 + G A COAD 45003747 + 45003727 45003767 41 GACAGCATTCGGGCCGAGATGTCTCGCTCCGTGGCCTTAGC GACAGCATTCGGGCCGAGATATCTCGCTCCGTGGCCTTAGC Direct Loss 0.800085599250556 0 Functional Loss -0.800085599250556 - B2M ENSG00000166710 CDS Human protein_coding chr15:45003747 chr15:45003747 nonsynonymous SNV 0.061 1 21 hm7G_associated_SNPs_3484 10 Likely pathogenic Malignant lymphoma, non-Hodgkin RCV000426129.1
105 chr15 45003747 45003747 1 + G A COAD 45003747 + 45003727 45003767 41 GACAGCATTCGGGCCGAGATGTCTCGCTCCGTGGCCTTAGC GACAGCATTCGGGCCGAGATATCTCGCTCCGTGGCCTTAGC Direct Loss 0.800085599250556 0 Functional Loss -0.800085599250556 - B2M ENSG00000166710 CDS Human protein_coding chr15:45003747 chr15:45003747 nonsynonymous SNV 0.061 1 21 hm7G_associated_SNPs_3484 10 Likely pathogenic Malignant melanoma of skin RCV000430927.1
106 chr15 45003747 45003747 1 + G A COAD 45003747 + 45003727 45003767 41 GACAGCATTCGGGCCGAGATGTCTCGCTCCGTGGCCTTAGC GACAGCATTCGGGCCGAGATATCTCGCTCCGTGGCCTTAGC Direct Loss 0.800085599250556 0 Functional Loss -0.800085599250556 - B2M ENSG00000166710 CDS Human protein_coding chr15:45003747 chr15:45003747 nonsynonymous SNV 0.061 1 21 hm7G_associated_SNPs_3484 10 Likely pathogenic Multiple myeloma RCV000432370.1
107 chr15 45003747 45003747 1 + G A COAD 45003747 + 45003727 45003767 41 GACAGCATTCGGGCCGAGATGTCTCGCTCCGTGGCCTTAGC GACAGCATTCGGGCCGAGATATCTCGCTCCGTGGCCTTAGC Direct Loss 0.800085599250556 0 Functional Loss -0.800085599250556 - B2M ENSG00000166710 CDS Human protein_coding chr15:45003747 chr15:45003747 nonsynonymous SNV 0.061 1 21 hm7G_associated_SNPs_3484 10 Likely pathogenic Adenocarcinoma of lung RCV000433517.1
108 chr15 45003747 45003747 1 + G A COAD 45003747 + 45003727 45003767 41 GACAGCATTCGGGCCGAGATGTCTCGCTCCGTGGCCTTAGC GACAGCATTCGGGCCGAGATATCTCGCTCCGTGGCCTTAGC Direct Loss 0.800085599250556 0 Functional Loss -0.800085599250556 - B2M ENSG00000166710 CDS Human protein_coding chr15:45003747 chr15:45003747 nonsynonymous SNV 0.061 1 21 hm7G_associated_SNPs_3484 10 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000433775.1
109 chr15 45003747 45003747 1 + G A COAD 45003747 + 45003727 45003767 41 GACAGCATTCGGGCCGAGATGTCTCGCTCCGTGGCCTTAGC GACAGCATTCGGGCCGAGATATCTCGCTCCGTGGCCTTAGC Direct Loss 0.800085599250556 0 Functional Loss -0.800085599250556 - B2M ENSG00000166710 CDS Human protein_coding chr15:45003747 chr15:45003747 nonsynonymous SNV 0.061 1 21 hm7G_associated_SNPs_3484 10 Likely pathogenic Adenocarcinoma of stomach RCV000441172.1
110 chr15 45003747 45003747 1 + G A COAD 45003747 + 45003727 45003767 41 GACAGCATTCGGGCCGAGATGTCTCGCTCCGTGGCCTTAGC GACAGCATTCGGGCCGAGATATCTCGCTCCGTGGCCTTAGC Direct Loss 0.800085599250556 0 Functional Loss -0.800085599250556 - B2M ENSG00000166710 CDS Human protein_coding chr15:45003747 chr15:45003747 nonsynonymous SNV 0.061 1 21 hm7G_associated_SNPs_3484 10 Likely pathogenic Small cell lung cancer RCV000442543.1
111 chr15 45003747 45003747 1 + G A COAD 45003747 + 45003727 45003767 41 GACAGCATTCGGGCCGAGATGTCTCGCTCCGTGGCCTTAGC GACAGCATTCGGGCCGAGATATCTCGCTCCGTGGCCTTAGC Direct Loss 0.800085599250556 0 Functional Loss -0.800085599250556 - B2M ENSG00000166710 CDS Human protein_coding chr15:45003747 chr15:45003747 nonsynonymous SNV 0.061 1 21 hm7G_associated_SNPs_3484 10 Likely pathogenic Squamous cell carcinoma of lung RCV000442680.1
112 chr17 42428095 42428095 1 + G A ESCA 42428095 + 42428075 42428115 41 GGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTT GGTCATGTGTCCGGACGCACAGTCCCGGTGCCCTGATGGTT Direct Loss 0.804182148854965 0 Functional Loss -0.804182148854965 - GRN ENSG00000030582 CDS Human protein_coding chr17:42428095 chr17:42428095 nonsynonymous SNV 0.126 0 21 hm7G_associated_SNPs_3657 1 not provided not provided RCV000084448.1
113 chr9 130444818 130444818 1 + G A HNSC 130444818 + 130444798 130444838 41 ACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATA ACGAGGTGACCCAGGCCAACAGAAAGTGGGAGGTGCTGATA Direct Loss 0.885434497333928 0 Functional Loss -0.885434497333928 - STXBP1 ENSG00000136854 CDS Human protein_coding chr9:130444818 chr9:130444818 nonsynonymous SNV 0.862 2 21 hm7G_associated_SNPs_3814 1 Uncertain significance not specified RCV000498493.1
114 chr3 10191563 10191563 1 + G T KIRC 10191563 + 10191543 10191583 41 ACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCA ACATCGTCAGGTCGCTCTACTAAGATCTGGAAGACCACCCA Direct Loss 0.863729960184339 0 Functional Loss -0.863729960184339 - VHL ENSG00000134086 CDS Human protein_coding chr3:10191563 chr3:10191563 stopgain 0.867 1 21 hm7G_associated_SNPs_3916 1 Likely pathogenic not provided RCV000432980.1
115 chrX 153608070 153608070 1 + G A LGG 153608070 + 153608050 153608090 41 GATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTAC GATCAACTCGTAGGCTTTACAAGAAGAAGATCTTCGAGTAC Direct Loss 0.81098972098821 0 Functional Loss -0.81098972098821 - EMD ENSG00000102119 CDS Human protein_coding chrX:153608070 chrX:153608070 nonsynonymous SNV 0.986 4 21 hm7G_associated_SNPs_3975 1 Uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked RCV000465491.1
116 chr19 50905313 50905313 1 + G A PRAD 50905313 + 50905293 50905333 41 GCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGG GCTGAACTTGGCCATCAGCCAGGACAGTCGCGGGGGGAGGG Direct Loss 0.856096650247513 0 Functional Loss -0.856096650247513 - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905313 chr19:50905313 nonsynonymous SNV 0.959 0 21 hm7G_associated_SNPs_4573 2 Uncertain significance Colorectal cancer 10 RCV000234115.2
117 chr19 50905313 50905313 1 + G A PRAD 50905313 + 50905293 50905333 41 GCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGG GCTGAACTTGGCCATCAGCCAGGACAGTCGCGGGGGGAGGG Direct Loss 0.856096650247513 0 Functional Loss -0.856096650247513 - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905313 chr19:50905313 nonsynonymous SNV 0.959 0 21 hm7G_associated_SNPs_4573 2 Uncertain significance not specified RCV000236481.2
118 chr1 156100449 156100449 1 + G T STAD 156100449 + 156100429 156100469 41 CCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTC CCTGATAGCTGCTCAGGCTCTGCTGAAGGACCTGGAGGCTC Direct Loss 0.807457433867371 0 Functional Loss -0.807457433867371 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100449 chr1:156100449 nonsynonymous SNV 0.998 5 21 hm7G_associated_SNPs_4858 4 Pathogenic Familial partial lipodystrophy 2 RCV000015577.29
119 chr1 156100449 156100449 1 + G T STAD 156100449 + 156100429 156100469 41 CCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTC CCTGATAGCTGCTCAGGCTCTGCTGAAGGACCTGGAGGCTC Direct Loss 0.807457433867371 0 Functional Loss -0.807457433867371 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100449 chr1:156100449 nonsynonymous SNV 0.998 5 21 hm7G_associated_SNPs_4858 4 Pathogenic Hutchinson-Gilford progeria syndrome, childhood-onset RCV000015578.29
120 chr1 156100449 156100449 1 + G T STAD 156100449 + 156100429 156100469 41 CCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTC CCTGATAGCTGCTCAGGCTCTGCTGAAGGACCTGGAGGCTC Direct Loss 0.807457433867371 0 Functional Loss -0.807457433867371 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100449 chr1:156100449 nonsynonymous SNV 0.998 5 21 hm7G_associated_SNPs_4858 4 not provided not provided RCV000057399.1
121 chr1 156100449 156100449 1 + G T STAD 156100449 + 156100429 156100469 41 CCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTC CCTGATAGCTGCTCAGGCTCTGCTGAAGGACCTGGAGGCTC Direct Loss 0.807457433867371 0 Functional Loss -0.807457433867371 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100449 chr1:156100449 nonsynonymous SNV 0.998 5 21 hm7G_associated_SNPs_4858 4 Pathogenic Charcot-Marie-Tooth disease RCV000192237.1
122 chrX 100668147 100668147 1 + G A STAD 100668147 + 100668127 100668167 41 CAGCAGGGGCAAGTGGTGGCGCTTATGGTAGCCAAATGATG CAGCAGGGGCAAGTGGTGGCACTTATGGTAGCCAAATGATG Direct Loss 0.818087560161942 0 Functional Loss -0.818087560161942 - HNRNPH2 ENSG00000126945 CDS Human protein_coding chrX:100668147 chrX:100668147 nonsynonymous SNV 0.999 2 21 hm7G_associated_SNPs_4870 1 Uncertain significance not specified RCV000498285.1
123 chr9 133333870 133333870 1 + G A UCEC 133333870 + 133333850 133333890 41 CAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTC CAGCGCACTGTATGAGGACCACTACCTCCTGGGCACCTCTC Direct Loss 0.801019696046288 0 Functional Loss -0.801019696046288 - ASS1 ENSG00000130707 CDS Human protein_coding chr9:133333870 chr9:133333870 nonsynonymous SNV 1.000 1 21 hm7G_associated_SNPs_5073 1 Pathogenic Citrullinemia type I RCV000256238.1
124 chr5 251560 251560 1 + G A UCEC 251560 + 251540 251580 41 CACGGAAGGAGTCACGGGGCGCGCATGCCAGGGAAGACTAC CACGGAAGGAGTCACGGGGCACGCATGCCAGGGAAGACTAC Direct Loss 0.807824708294921 0 Functional Loss -0.807824708294921 - SDHA ENSG00000073578 CDS Human protein_coding chr5:251560 chr5:251560 nonsynonymous SNV 0.004 4 21 hm7G_associated_SNPs_5322 2 Uncertain significance Mitochondrial complex II deficiency RCV000460826.1
125 chr5 251560 251560 1 + G A UCEC 251560 + 251540 251580 41 CACGGAAGGAGTCACGGGGCGCGCATGCCAGGGAAGACTAC CACGGAAGGAGTCACGGGGCACGCATGCCAGGGAAGACTAC Direct Loss 0.807824708294921 0 Functional Loss -0.807824708294921 - SDHA ENSG00000073578 CDS Human protein_coding chr5:251560 chr5:251560 nonsynonymous SNV 0.004 4 21 hm7G_associated_SNPs_5322 2 Uncertain significance Paragangliomas 5 RCV000460826.1
126 chr9 133342161 133342161 1 + G A UCEC 133342161 + 133342141 133342181 41 CTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACG CTACAACCGGTTCAAGGGCCACAATGACCTGATGGAGTACG Direct Loss 0.828540041685753 0 Functional Loss -0.828540041685753 - ASS1 ENSG00000130707 CDS Human protein_coding chr9:133342161 chr9:133342161 nonsynonymous SNV 0.988 3 21 hm7G_associated_SNPs_5694 2 Pathogenic Citrullinemia type I RCV000006697.2
127 chr9 133342161 133342161 1 + G A UCEC 133342161 + 133342141 133342181 41 CTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACG CTACAACCGGTTCAAGGGCCACAATGACCTGATGGAGTACG Direct Loss 0.828540041685753 0 Functional Loss -0.828540041685753 - ASS1 ENSG00000130707 CDS Human protein_coding chr9:133342161 chr9:133342161 nonsynonymous SNV 0.988 3 21 hm7G_associated_SNPs_5694 2 Uncertain significance not specified RCV000259104.1
128 chr17 7128201 7128201 1 + G A UCEC 7128201 + 7128181 7128221 41 TCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCC TCTGTGACACCTGGTGTATCAAGGTGAGACTCGGGGCTGCC Direct Loss 0.813074728184814 0 Functional Loss -0.813074728184814 - ACADVL ENSG00000072778 CDS Human protein_coding chr17:7128201 chr17:7128201 nonsynonymous SNV 0.997 4 21 hm7G_associated_SNPs_5777 1 Uncertain significance not specified RCV000185732.3
129 chr19 50921137 50921137 1 + G A UCEC 50921137 + 50921117 50921157 41 CTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGG CTACATGCGCAAGAAGGTGCAGAAGGACCTGGAAGACCAGG Direct Loss 0.820866935781771 0 Functional Loss -0.820866935781771 - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50921137 chr19:50921137 nonsynonymous SNV 0.987 0 21 hm7G_associated_SNPs_6021 2 Uncertain significance Colorectal cancer 10 RCV000226880.2
130 chr19 50921137 50921137 1 + G A UCEC 50921137 + 50921117 50921157 41 CTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGG CTACATGCGCAAGAAGGTGCAGAAGGACCTGGAAGACCAGG Direct Loss 0.820866935781771 0 Functional Loss -0.820866935781771 - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50921137 chr19:50921137 nonsynonymous SNV 0.987 0 21 hm7G_associated_SNPs_6021 2 Uncertain significance not specified RCV000235427.1
131 chr17 4918122 4918122 1 + A G rs57144955 4918123 + 4918103 4918143 41 TCCGGAGCATCCCCCAGCCAGATGGAGAAGGTAATGGCTGA TCCGGAGCATCCCCCAGCCGGATGGAGAAGGTAATGGCTGA < 41bp 0.710468854393319 0.504659568286795 Functional Loss -0.205809286106525 - KIF1C ENSG00000129250 CDS Human protein_coding chr17:4918123 chr17:4918122 synonymous SNV . 0 20 hm7G_associated_SNPs_6048 1 Benign not specified RCV000419092.1
132 chrX 153775785 153775785 1 + T C rs111827785 153775784 - 153775764 153775804 41 AACACAAGCCCCGCCCCCGAGAACTCGGGAAGCCGGCGAGA AACACAAGCCCCGCCCCCGGGAACTCGGGAAGCCGGCGAGA < 41bp 0.748123568626296 0.526632500701693 Functional Loss -0.221491067924603 - G6PD;IKBKG ENSG00000073009;ENSG00000160211 UTR5 Human other chrX:153775784 chrX:153775785 . . 0 20 hm7G_associated_SNPs_6056 1 Likely benign Glucose 6 phosphate dehydrogenase deficiency RCV000277086.1
133 chr1 984769 984769 1 + C T rs75767981 984770 + 984750 984790 41 GCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACA GCGAGAGTCCCAGTGGCACTGACGGCCTCAACCTGGACACA < 41bp 0.496136606064252 0.701923057855025 Functional Gain 0.205786451790772 - AGRN ENSG00000188157 CDS Human protein_coding chr1:984770 chr1:984769 synonymous SNV . 0 20 hm7G_associated_SNPs_6100 1 other not specified RCV000116270.3
134 chr1 985377 985377 1 + C T rs113020870 985378 + 985358 985398 41 CCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAG CCGAGGGTGGTGCTCAGTGTGAGTGCCCCCTGGGGCGTGAG < 41bp 0.523377304803238 0.724283826104282 Functional Gain 0.200906521301044 - AGRN ENSG00000188157 CDS Human protein_coding chr1:985378 chr1:985377 synonymous SNV . 0 20 hm7G_associated_SNPs_6101 1 Likely benign not specified RCV000254107.1
135 chr1 55518418 55518418 1 + C T rs28385710 55518419 + 55518399 55518439 41 CCAGCATGCGCAGCCTGCGCGTGCTCAACTGCCAAGGGAAG CCAGCATGCGCAGCCTGCGTGTGCTCAACTGCCAAGGGAAG < 41bp 0.511099140067617 0.714136889353403 Functional Gain 0.203037749285786 - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55518419 chr1:55518418 synonymous SNV . 0 20 hm7G_associated_SNPs_6113 4 Likely benign not specified RCV000244914.1
136 chr1 55518418 55518418 1 + C T rs28385710 55518419 + 55518399 55518439 41 CCAGCATGCGCAGCCTGCGCGTGCTCAACTGCCAAGGGAAG CCAGCATGCGCAGCCTGCGTGTGCTCAACTGCCAAGGGAAG < 41bp 0.511099140067617 0.714136889353403 Functional Gain 0.203037749285786 - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55518419 chr1:55518418 synonymous SNV . 0 20 hm7G_associated_SNPs_6113 4 other Familial hypercholesterolemia RCV000256232.2
137 chr1 55518418 55518418 1 + C T rs28385710 55518419 + 55518399 55518439 41 CCAGCATGCGCAGCCTGCGCGTGCTCAACTGCCAAGGGAAG CCAGCATGCGCAGCCTGCGTGTGCTCAACTGCCAAGGGAAG < 41bp 0.511099140067617 0.714136889353403 Functional Gain 0.203037749285786 - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55518419 chr1:55518418 synonymous SNV . 0 20 hm7G_associated_SNPs_6113 4 Likely benign Familial hypobetalipoproteinemia RCV000321631.1
138 chr1 55518418 55518418 1 + C T rs28385710 55518419 + 55518399 55518439 41 CCAGCATGCGCAGCCTGCGCGTGCTCAACTGCCAAGGGAAG CCAGCATGCGCAGCCTGCGTGTGCTCAACTGCCAAGGGAAG < 41bp 0.511099140067617 0.714136889353403 Functional Gain 0.203037749285786 - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55518419 chr1:55518418 synonymous SNV . 0 20 hm7G_associated_SNPs_6113 4 Benign Hypercholesterolemia, autosomal dominant, 3 RCV000468113.1
139 chr1 109466760 109466760 1 + C T rs79730689 109466761 + 109466741 109466781 41 CTAACACAAAACAGCCAGTCGGTACTTAGCCACCTGATGAC CTAACACAAAACAGCCAGTTGGTACTTAGCCACCTGATGAC < 41bp 0.494277759010225 0.702425171555933 Functional Gain 0.208147412545708 - GPSM2 ENSG00000121957 CDS Human protein_coding chr1:109466761 chr1:109466760 nonsynonymous SNV 0.718 1 20 hm7G_associated_SNPs_6116 2 Likely benign not specified RCV000155123.1
140 chr1 109466760 109466760 1 + C T rs79730689 109466761 + 109466741 109466781 41 CTAACACAAAACAGCCAGTCGGTACTTAGCCACCTGATGAC CTAACACAAAACAGCCAGTTGGTACTTAGCCACCTGATGAC < 41bp 0.494277759010225 0.702425171555933 Functional Gain 0.208147412545708 - GPSM2 ENSG00000121957 CDS Human protein_coding chr1:109466761 chr1:109466760 nonsynonymous SNV 0.718 1 20 hm7G_associated_SNPs_6116 2 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000327761.1
141 chr1 120266026 120266026 1 + C T rs115747918 120266027 + 120266007 120266047 41 ATGGGAACAGCCTCAGTGCCGCAGAACTCACTTGTGGAATG ATGGGAACAGCCTCAGTGCTGCAGAACTCACTTGTGGAATG < 41bp 0.553022926774349 0.755127384427409 Functional Gain 0.20210445765306 - PHGDH ENSG00000092621 CDS Human protein_coding chr1:120266027 chr1:120266026 synonymous SNV . 0 20 hm7G_associated_SNPs_6118 1 Likely benign Phosphoglycerate dehydrogenase deficiency RCV000348830.1
142 chr2 220370192 220370192 1 + C T rs146215853 220370193 + 220370173 220370213 41 TCCCCAGTTCAGCCCTCTACGCCTCCCGCCTCTACCTGAGC TCCCCAGTTCAGCCCTCTATGCCTCCCGCCTCTACCTGAGC < 41bp 0.509019121933331 0.717186547419472 Functional Gain 0.208167425486141 - GMPPA ENSG00000144591 CDS Human protein_coding chr2:220370193 chr2:220370192 synonymous SNV . 0 20 hm7G_associated_SNPs_6133 1 Likely benign not specified RCV000445213.1
143 chr3 128525253 128525253 1 + C T rs4548 128525254 + 128525234 128525274 41 AGGAACGGTTCCAGTCTCTCGGTGTGGCCTTCTACAGAGGT AGGAACGGTTCCAGTCTCTTGGTGTGGCCTTCTACAGAGGT < 41bp 0.533950645221653 0.740621280165103 Functional Gain 0.20667063494345 - RAB7A ENSG00000075785 CDS Human protein_coding chr3:128525254 chr3:128525253 synonymous SNV . 0 20 hm7G_associated_SNPs_6141 2 Benign not specified RCV000127682.1
144 chr3 128525253 128525253 1 + C T rs4548 128525254 + 128525234 128525274 41 AGGAACGGTTCCAGTCTCTCGGTGTGGCCTTCTACAGAGGT AGGAACGGTTCCAGTCTCTTGGTGTGGCCTTCTACAGAGGT < 41bp 0.533950645221653 0.740621280165103 Functional Gain 0.20667063494345 - RAB7A ENSG00000075785 CDS Human protein_coding chr3:128525254 chr3:128525253 synonymous SNV . 0 20 hm7G_associated_SNPs_6141 2 Likely benign Charcot-Marie-Tooth, Type 2 RCV000291196.1
145 chr3 128621446 128621446 1 + G T rs549000613 128621447 + 128621427 128621467 41 TCAGCATGGGCAGCGTCGTGGCTGGGCTGCTCAAGAGATTG TCAGCATGGGCAGCGTCGTTGCTGGGCTGCTCAAGAGATTG < 41bp 0.460818885067971 0.793057776716435 Functional Gain 0.332238891648464 - ACAD9 ENSG00000177646 CDS Human protein_coding chr3:128621447 chr3:128621446 synonymous SNV . 0 20 hm7G_associated_SNPs_6142 1 Likely benign not specified RCV000432721.1
146 chr5 149754325 149754325 1 + C T rs114326915 149754326 + 149754306 149754346 41 GGGAAGCGGGAGGAGGACTCGCAGAGCAGCAGCGAGGAATC GGGAAGCGGGAGGAGGACTTGCAGAGCAGCAGCGAGGAATC < 41bp 0.519618186321047 0.724044196115009 Functional Gain 0.204426009793962 - TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149754326 chr5:149754325 nonsynonymous SNV 0.001 0 20 hm7G_associated_SNPs_6151 1 Likely benign Treacher Collins Syndrome, Dominant RCV000327503.1
147 chr9 124083642 124083642 1 + C T rs116185403 124083643 + 124083623 124083663 41 CATCATTCTGTACAACTACCGCCATGGTGGCCGCCAGGGGC CATCATTCTGTACAACTACTGCCATGGTGGCCGCCAGGGGC < 41bp 0.521727405059585 0.726433296818371 Functional Gain 0.204705891758786 - GSN ENSG00000148180 CDS Human protein_coding chr9:124083643 chr9:124083642 nonsynonymous SNV 0.996 1 20 hm7G_associated_SNPs_6174 1 Likely benign Amyloidosis RCV000398476.1
148 chr9 133352335 133352335 1 + C T rs58233547 133352336 + 133352316 133352356 41 CCCCTGACATTCTCGAGATCGAGTTCAAAAAAGGTATGTGC CCCCTGACATTCTCGAGATTGAGTTCAAAAAAGGTATGTGC < 41bp 0.505897777312813 0.711857736122448 Functional Gain 0.205959958809635 - ASS1 ENSG00000130707 CDS Human protein_coding chr9:133352336 chr9:133352335 synonymous SNV . 0 20 hm7G_associated_SNPs_6180 1 Benign not specified RCV000185781.2
149 chr12 98909391 98909391 1 + C A rs575336054 98909390 - 98909370 98909410 41 CCCCAGCCCACACACTACAGGCAGGAGGCGAGCAGCCTGCT CCCCAGCCCACACACTACATGCAGGAGGCGAGCAGCCTGCT < 41bp 0.649784195774972 0.866967342734708 Functional Gain 0.217183146959736 - TMPO-AS1 ENSG00000257167 ncRNA_exonic Human antisense chr12:98909390 chr12:98909391 . . 0 20 hm7G_associated_SNPs_6214 1 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000363255.1
150 chr16 5129069 5129069 1 + C T rs144029725 5129070 + 5129050 5129090 41 ATTCTCTTCTCATAGAGGACGAAGACTTCTCCATCCTGCTG ATTCTCTTCTCATAGAGGATGAAGACTTCTCCATCCTGCTG < 41bp 0.496526409046919 0.707675263051588 Functional Gain 0.211148854004668 - ALG1 ENSG00000033011 CDS Human protein_coding chr16:5129070 chr16:5129069 synonymous SNV . 0 20 hm7G_associated_SNPs_6228 1 Likely benign not specified RCV000420064.1
151 chr16 5132636 5132636 1 + C T rs1047732 5132637 + 5132617 5132657 41 TGAAGGTGGTGGACATGTTCGGGTGCTGTTTGCCTGTGTGT TGAAGGTGGTGGACATGTTTGGGTGCTGTTTGCCTGTGTGT < 41bp 0.51936983906647 0.726005446044117 Functional Gain 0.206635606977646 - ALG1 ENSG00000033011 CDS Human protein_coding chr16:5132637 chr16:5132636 synonymous SNV . 0 20 hm7G_associated_SNPs_6229 1 Benign not specified RCV000081982.6
152 chr16 29802078 29802078 1 + G A rs144408025 29802079 + 29802059 29802099 41 GCGGGCCCAAGGAGGGAGTGGAATGGCCGCGGGCGGCTCGA GCGGGCCCAAGGAGGGAGTAGAATGGCCGCGGGCGGCTCGA < 41bp 0.516860953325643 0.732505605089842 Functional Gain 0.215644651764198 - KIF22 ENSG00000079616 UTR5 Human protein_coding chr16:29802079 chr16:29802078 . . 0 20 hm7G_associated_SNPs_6232 1 Benign not specified RCV000173419.1
153 chr17 7125311 7125311 1 + C T rs144255994 7125312 + 7125292 7125332 41 GTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATC GTCTAACCGAGCCCTCAAGTGGGTCAGATGCAGCCTCCATC < 41bp 0.500369051823502 0.714533414115773 Functional Gain 0.214164362292271 - ACADVL ENSG00000072778 CDS Human protein_coding chr17:7125312 chr17:7125311 synonymous SNV . 0 20 hm7G_associated_SNPs_6240 1 Likely benign not specified RCV000436775.1
154 chr17 7126145 7126145 1 + G A rs8064573 7126146 + 7126126 7126166 41 GAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGA GAAGGTTTGGCATGGCTGCAGCCCTGGCAGGTACCATGAGA < 41bp 0.506605466011181 0.721374601438871 Functional Gain 0.21476913542769 - ACADVL ENSG00000072778 CDS Human protein_coding chr17:7126146 chr17:7126145 synonymous SNV . 0 20 hm7G_associated_SNPs_6241 2 other Very long chain acyl-CoA dehydrogenase deficiency RCV000020068.2
155 chr17 7126145 7126145 1 + G A rs8064573 7126146 + 7126126 7126166 41 GAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGA GAAGGTTTGGCATGGCTGCAGCCCTGGCAGGTACCATGAGA < 41bp 0.506605466011181 0.721374601438871 Functional Gain 0.21476913542769 - ACADVL ENSG00000072778 CDS Human protein_coding chr17:7126146 chr17:7126145 synonymous SNV . 0 20 hm7G_associated_SNPs_6241 2 Benign not specified RCV000077899.5
156 chr17 42427892 42427892 1 + C T rs63750479 42427893 + 42427873 42427913 41 ACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAA ACCCGCTGCATCACACCCATGGGCACCCACCCCCTGGCAAA < 41bp 0.525017758477225 0.725645104407533 Functional Gain 0.200627345930308 - GRN ENSG00000030582 CDS Human protein_coding chr17:42427893 chr17:42427892 nonsynonymous SNV 0.001 0 20 hm7G_associated_SNPs_6249 2 not provided not provided RCV000084447.1
157 chr17 42427892 42427892 1 + C T rs63750479 42427893 + 42427873 42427913 41 ACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAA ACCCGCTGCATCACACCCATGGGCACCCACCCCCTGGCAAA < 41bp 0.525017758477225 0.725645104407533 Functional Gain 0.200627345930308 - GRN ENSG00000030582 CDS Human protein_coding chr17:42427893 chr17:42427892 nonsynonymous SNV 0.001 0 20 hm7G_associated_SNPs_6249 2 Likely benign Frontotemporal dementia RCV000295460.1
158 chr17 71197748 71197748 1 + G A rs1037256 71197749 + 71197729 71197769 41 AGCTACAGAGCATTGAAGAGGGTGTGCAAGGGCAACAGGAT AGCTACAGAGCATTGAAGAAGGTGTGCAAGGGCAACAGGAT < 41bp 0.494845873596981 0.703006931039714 Functional Gain 0.208161057442732 - COG1 ENSG00000166685 CDS Human protein_coding chr17:71197749 chr17:71197748 synonymous SNV . 0 20 hm7G_associated_SNPs_6256 2 Benign not specified RCV000081963.4
159 chr17 71197748 71197748 1 + G A rs1037256 71197749 + 71197729 71197769 41 AGCTACAGAGCATTGAAGAGGGTGTGCAAGGGCAACAGGAT AGCTACAGAGCATTGAAGAAGGTGTGCAAGGGCAACAGGAT < 41bp 0.494845873596981 0.703006931039714 Functional Gain 0.208161057442732 - COG1 ENSG00000166685 CDS Human protein_coding chr17:71197749 chr17:71197748 synonymous SNV . 0 20 hm7G_associated_SNPs_6256 2 Benign Congenital disorder of glycosylation RCV000389631.1
160 chr19 40883933 40883933 1 + G A rs4819 40883934 + 40883914 40883954 41 ACTACTTCACGGAGACGGCGGGCACCTCGCTGCTGGTGACG ACTACTTCACGGAGACGGCAGGCACCTCGCTGCTGGTGACG < 41bp 0.512907157152197 0.732028232590963 Functional Gain 0.219121075438766 - PLD3 ENSG00000105223 CDS Human protein_coding chr19:40883934 chr19:40883933 synonymous SNV . 0 20 hm7G_associated_SNPs_6293 1 Likely benign not specified RCV000454418.1
161 chr19 50321858 50321858 1 + G A rs77400039 50321859 + 50321839 50321879 41 GTGGTCCTCCTGCTGAGACGGACTTCGGGGGAGACGTGAGT GTGGTCCTCCTGCTGAGACAGACTTCGGGGGAGACGTGAGT < 41bp 0.50768537997599 0.718218452614697 Functional Gain 0.210533072638707 - MED25 ENSG00000104973 CDS Human protein_coding chr19:50321859 chr19:50321858 synonymous SNV . 0 20 hm7G_associated_SNPs_6307 3 Benign not specified RCV000175953.1
162 chr19 50321858 50321858 1 + G A rs77400039 50321859 + 50321839 50321879 41 GTGGTCCTCCTGCTGAGACGGACTTCGGGGGAGACGTGAGT GTGGTCCTCCTGCTGAGACAGACTTCGGGGGAGACGTGAGT < 41bp 0.50768537997599 0.718218452614697 Functional Gain 0.210533072638707 - MED25 ENSG00000104973 CDS Human protein_coding chr19:50321859 chr19:50321858 synonymous SNV . 0 20 hm7G_associated_SNPs_6307 3 Likely benign Charcot-Marie-Tooth, Type 2 RCV000366734.1
163 chr19 50321858 50321858 1 + G A rs77400039 50321859 + 50321839 50321879 41 GTGGTCCTCCTGCTGAGACGGACTTCGGGGGAGACGTGAGT GTGGTCCTCCTGCTGAGACAGACTTCGGGGGAGACGTGAGT < 41bp 0.50768537997599 0.718218452614697 Functional Gain 0.210533072638707 - MED25 ENSG00000104973 CDS Human protein_coding chr19:50321859 chr19:50321858 synonymous SNV . 0 20 hm7G_associated_SNPs_6307 3 Benign Charcot-Marie-Tooth disease, type 2 RCV000471534.1
164 chr19 50887601 50887601 1 + G A rs576035899 50887602 + 50887582 50887622 41 CTTGCGCGCGCGGGAGTCAGGGGTCACGGCGGCGTAGGCTG CTTGCGCGCGCGGGAGTCAAGGGTCACGGCGGCGTAGGCTG < 41bp 0.498995548837697 0.725971946904251 Functional Gain 0.226976398066555 - POLD1 ENSG00000062822 UTR5 Human protein_coding chr19:50887602 chr19:50887601 . . 0 20 hm7G_associated_SNPs_6309 1 Likely benign not specified RCV000425282.1
165 chr19 50906400 50906400 1 + C T rs140990974 50906401 + 50906381 50906421 41 GAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGC GAGCCCTTCCTACGCCTGGTGCTCACCCTGCGGCCCTGTGC < 41bp 0.535556063907466 0.736477122701803 Functional Gain 0.200921058794336 - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50906401 chr19:50906400 nonsynonymous SNV 0.842 0 20 hm7G_associated_SNPs_6310 2 Likely benign Colorectal cancer 10 RCV000232660.2
166 chr19 50906400 50906400 1 + C T rs140990974 50906401 + 50906381 50906421 41 GAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGC GAGCCCTTCCTACGCCTGGTGCTCACCCTGCGGCCCTGTGC < 41bp 0.535556063907466 0.736477122701803 Functional Gain 0.200921058794336 - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50906401 chr19:50906400 nonsynonymous SNV 0.842 0 20 hm7G_associated_SNPs_6310 2 Uncertain significance not specified RCV000481032.1
167 chr22 44322970 44322970 1 + G T rs2076212 44322971 + 44322951 44322991 41 GCTCATCTCCGGCAAAATAGGCATCTCTCTTACCAGAGTGT GCTCATCTCCGGCAAAATATGCATCTCTCTTACCAGAGTGT < 41bp 0.474206155739289 0.793360599544383 Functional Gain 0.319154443805095 - PNPLA3 ENSG00000100344 CDS Human protein_coding chr22:44322971 chr22:44322970 nonsynonymous SNV 0.000 0 20 hm7G_associated_SNPs_6325 1 Likely benign Susceptibility to Nonalcoholic Fatty Liver Disease RCV000334729.1
168 chr22 45938042 45938042 1 + C T rs147528917 45938043 + 45938023 45938063 41 CTCCTTTGCAAGATGTGGACGAGTGCGCGCCACCTGCTGAG CTCCTTTGCAAGATGTGGATGAGTGCGCGCCACCTGCTGAG < 41bp 0.546194283174757 0.750071784079689 Functional Gain 0.203877500904932 - FBLN1 ENSG00000077942 CDS Human protein_coding chr22:45938043 chr22:45938042 synonymous SNV . 0 20 hm7G_associated_SNPs_6327 1 Uncertain significance not specified RCV000285543.1
169 chrX 48337083 48337083 1 + G T rs138008946 48337084 + 48337064 48337104 41 GTGTGGTACAGATCCAGGGGGACATCACCCAGGTAAGAGCA GTGTGGTACAGATCCAGGGTGACATCACCCAGGTAAGAGCA < 41bp 0.595645405312905 0.864088216957775 Functional Gain 0.26844281164487 - FTSJ1 ENSG00000068438 CDS Human protein_coding chrX:48337084 chrX:48337083 synonymous SNV . 0 20 hm7G_associated_SNPs_6334 1 Benign not specified RCV000178288.1
170 chr16 2546267 2546267 1 + C T CESC 2546268 + 2546248 2546288 41 GGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAA GGAACTGAAGCAGCTGGCGTGCCAGGGCTACTGGGCCCAAA < 41bp 0.492068507402055 0.703157057437864 Functional Gain 0.21108855003581 - TBC1D24 ENSG00000162065;ENSG00000260272 CDS Human other chr16:2546268 chr16:2546267 nonsynonymous SNV 0.977 4 20 hm7G_associated_SNPs_6483 1 Pathogenic Digitorenocerebral syndrome RCV000076914.6
171 chr10 75871762 75871762 1 + C T COAD 75871763 + 75871743 75871783 41 TCCCCCCTGACATGGAAGACGATTACGAACCTGAGCTGCTG TCCCCCCTGACATGGAAGATGATTACGAACCTGAGCTGCTG < 41bp 0.504038425335547 0.705943602294327 Functional Gain 0.20190517695878 - VCL ENSG00000035403 CDS Human protein_coding chr10:75871763 chr10:75871762 synonymous SNV . 0 20 hm7G_associated_SNPs_6525 2 Likely benign not specified RCV000152652.1
172 chr10 75871762 75871762 1 + C T COAD 75871763 + 75871743 75871783 41 TCCCCCCTGACATGGAAGACGATTACGAACCTGAGCTGCTG TCCCCCCTGACATGGAAGATGATTACGAACCTGAGCTGCTG < 41bp 0.504038425335547 0.705943602294327 Functional Gain 0.20190517695878 - VCL ENSG00000035403 CDS Human protein_coding chr10:75871763 chr10:75871762 synonymous SNV . 0 20 hm7G_associated_SNPs_6525 2 Likely benign Dilated cardiomyopathy 1W RCV000471848.1
173 chr19 50332240 50332240 1 + C T COAD 50332241 + 50332221 50332261 41 TGGTAGTGGCCAGACGCACCGGGTCTGCCTCCTCATCTGCA TGGTAGTGGCCAGACGCACTGGGTCTGCCTCCTCATCTGCA < 41bp 0.510111305850767 0.720348604280226 Functional Gain 0.210237298429459 - MED25 ENSG00000104973 CDS Human protein_coding chr19:50332241 chr19:50332240 nonsynonymous SNV 0.990 4 20 hm7G_associated_SNPs_6577 1 Uncertain significance not provided RCV000162327.4
174 chr9 137698079 137698079 1 + C T COAD 137698080 + 137698060 137698100 41 CTGGAGCCGCTGGGCCCATCGGAATTCCAGGGAGACCTGGG CTGGAGCCGCTGGGCCCATTGGAATTCCAGGGAGACCTGGG < 41bp 0.50035965360181 0.703728277310818 Functional Gain 0.203368623709008 - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137698080 chr9:137698079 synonymous SNV . 0 20 hm7G_associated_SNPs_6676 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000241825.1
175 chr9 137698079 137698079 1 + C T COAD 137698080 + 137698060 137698100 41 CTGGAGCCGCTGGGCCCATCGGAATTCCAGGGAGACCTGGG CTGGAGCCGCTGGGCCCATTGGAATTCCAGGGAGACCTGGG < 41bp 0.50035965360181 0.703728277310818 Functional Gain 0.203368623709008 - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137698080 chr9:137698079 synonymous SNV . 0 20 hm7G_associated_SNPs_6676 2 Likely benign Ehlers-Danlos syndrome, classic type RCV000457562.1
176 chr19 50919935 50919935 1 + C T COAD 50919936 + 50919916 50919956 41 CCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCT CCTCCTGGCCTTCGCCAAATGCCGCAACTGCTGCATTGGCT < 41bp 0.494161899238057 0.706479992717929 Functional Gain 0.212318093479872 - POLD1 ENSG00000062822;ENSG00000142539 CDS Human other chr19:50919936 chr19:50919935 nonsynonymous SNV 0.987 2 20 hm7G_associated_SNPs_6727 1 Uncertain significance Colorectal cancer 10 RCV000473681.1
177 chr19 50912814 50912814 1 + G A ESCA 50912815 + 50912795 50912835 41 AAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGACG AAGGAGACAGACCCCCTCCAGCGCCAGGTCCTGGATGGACG < 41bp 0.515322774838002 0.738153055152827 Functional Gain 0.222830280314825 - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912815 chr19:50912814 nonsynonymous SNV 0.993 2 20 hm7G_associated_SNPs_6755 1 Uncertain significance Colorectal cancer 10 RCV000468664.1
178 chr16 2550805 2550805 1 + G T HNSC 2550806 + 2550786 2550826 41 TGACCTGAGCATCCTGCAGGGGGAGGAGGCGGCCAGGCGCT TGACCTGAGCATCCTGCAGTGGGAGGAGGCGGCCAGGCGCT < 41bp 0.412163324611795 0.728207573642629 Functional Gain 0.316044249030834 - TBC1D24 ENSG00000162065 CDS Human protein_coding chr16:2550806 chr16:2550805 nonsynonymous SNV 0.757 5 20 hm7G_associated_SNPs_6835 1 Uncertain significance not specified RCV000189702.1
179 chr19 50912134 50912134 1 + G A HNSC 50912135 + 50912115 50912155 41 TGTTACACCACGCTCCTTCGGCCCGGGACTGCACAGAAACT TGTTACACCACGCTCCTTCAGCCCGGGACTGCACAGAAACT < 41bp 0.549329902383338 0.754638348752369 Functional Gain 0.20530844636903 - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912135 chr19:50912134 nonsynonymous SNV 0.068 0 20 hm7G_associated_SNPs_6866 1 Uncertain significance not specified RCV000485581.1
180 chr19 50902122 50902122 1 + G A HNSC 50902123 + 50902103 50902143 41 AGCAGGATGGATGGCAAGCGGCGGCCAGGCCCAGGGCCCGG AGCAGGATGGATGGCAAGCAGCGGCCAGGCCCAGGGCCCGG < 41bp 0.53616879443365 0.751851334154329 Functional Gain 0.215682539720679 - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50902123 chr19:50902122 nonsynonymous SNV 0.999 1 20 hm7G_associated_SNPs_6877 1 Uncertain significance Colorectal cancer 10 RCV000475642.1
181 chr17 66526546 66526546 1 + C T HNSC 66526547 + 66526527 66526567 41 ATGCTCAGACATCCTCAAACGAAACATCCAGCAGTACAACA ATGCTCAGACATCCTCAAATGAAACATCCAGCAGTACAACA < 41bp 0.523041052214113 0.725031509926364 Functional Gain 0.201990457712252 - PRKAR1A ENSG00000108946 CDS Human protein_coding chr17:66526547 chr17:66526546 stopgain 0.998 1 20 hm7G_associated_SNPs_6891 1 Pathogenic Acrodysostosis 1 with or without hormone resistance RCV000022791.25
182 chr19 52715983 52715983 1 + G A HNSC 52715984 + 52715964 52716004 41 GACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGG GACACCCCCATGGTGCGGCAGGCCGCAGCCTCCAAGCTGGG < 41bp 0.570130893306223 0.774379891921149 Functional Gain 0.204248998614926 - PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715984 chr19:52715983 nonsynonymous SNV 1.000 3 20 hm7G_associated_SNPs_6899 9 Likely pathogenic Uterine Carcinosarcoma RCV000420373.1
183 chr19 52715983 52715983 1 + G A HNSC 52715984 + 52715964 52716004 41 GACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGG GACACCCCCATGGTGCGGCAGGCCGCAGCCTCCAAGCTGGG < 41bp 0.570130893306223 0.774379891921149 Functional Gain 0.204248998614926 - PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715984 chr19:52715983 nonsynonymous SNV 1.000 3 20 hm7G_associated_SNPs_6899 9 Likely pathogenic Colorectal Neoplasms RCV000422450.1
184 chr19 52715983 52715983 1 + G A HNSC 52715984 + 52715964 52716004 41 GACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGG GACACCCCCATGGTGCGGCAGGCCGCAGCCTCCAAGCTGGG < 41bp 0.570130893306223 0.774379891921149 Functional Gain 0.204248998614926 - PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715984 chr19:52715983 nonsynonymous SNV 1.000 3 20 hm7G_associated_SNPs_6899 9 Likely pathogenic Adenocarcinoma of lung RCV000423122.1
185 chr19 52715983 52715983 1 + G A HNSC 52715984 + 52715964 52716004 41 GACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGG GACACCCCCATGGTGCGGCAGGCCGCAGCCTCCAAGCTGGG < 41bp 0.570130893306223 0.774379891921149 Functional Gain 0.204248998614926 - PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715984 chr19:52715983 nonsynonymous SNV 1.000 3 20 hm7G_associated_SNPs_6899 9 Likely pathogenic Malignant neoplasm of body of uterus RCV000430627.1
186 chr19 52715983 52715983 1 + G A HNSC 52715984 + 52715964 52716004 41 GACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGG GACACCCCCATGGTGCGGCAGGCCGCAGCCTCCAAGCTGGG < 41bp 0.570130893306223 0.774379891921149 Functional Gain 0.204248998614926 - PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715984 chr19:52715983 nonsynonymous SNV 1.000 3 20 hm7G_associated_SNPs_6899 9 Likely pathogenic Neoplasm of the breast RCV000432728.1
187 chr19 52715983 52715983 1 + G A HNSC 52715984 + 52715964 52716004 41 GACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGG GACACCCCCATGGTGCGGCAGGCCGCAGCCTCCAAGCTGGG < 41bp 0.570130893306223 0.774379891921149 Functional Gain 0.204248998614926 - PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715984 chr19:52715983 nonsynonymous SNV 1.000 3 20 hm7G_associated_SNPs_6899 9 Likely pathogenic Adenocarcinoma of stomach RCV000433386.1
188 chr19 52715983 52715983 1 + G A HNSC 52715984 + 52715964 52716004 41 GACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGG GACACCCCCATGGTGCGGCAGGCCGCAGCCTCCAAGCTGGG < 41bp 0.570130893306223 0.774379891921149 Functional Gain 0.204248998614926 - PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715984 chr19:52715983 nonsynonymous SNV 1.000 3 20 hm7G_associated_SNPs_6899 9 Likely pathogenic Adenocarcinoma of prostate RCV000440118.1
189 chr19 52715983 52715983 1 + G A HNSC 52715984 + 52715964 52716004 41 GACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGG GACACCCCCATGGTGCGGCAGGCCGCAGCCTCCAAGCTGGG < 41bp 0.570130893306223 0.774379891921149 Functional Gain 0.204248998614926 - PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715984 chr19:52715983 nonsynonymous SNV 1.000 3 20 hm7G_associated_SNPs_6899 9 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000440878.1
190 chr19 52715983 52715983 1 + G A HNSC 52715984 + 52715964 52716004 41 GACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGG GACACCCCCATGGTGCGGCAGGCCGCAGCCTCCAAGCTGGG < 41bp 0.570130893306223 0.774379891921149 Functional Gain 0.204248998614926 - PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715984 chr19:52715983 nonsynonymous SNV 1.000 3 20 hm7G_associated_SNPs_6899 9 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000444029.1
191 chr14 20940627 20940627 1 + C T LGG 20940628 + 20940608 20940648 41 TGAAATCCCCAACTTTCCCCGAAGTACAGGTACTGGCAAGG TGAAATCCCCAACTTTCCCTGAAGTACAGGTACTGGCAAGG < 41bp 0.525655647095867 0.725991282122075 Functional Gain 0.200335635026208 - PNP ENSG00000198805 CDS Human protein_coding chr14:20940628 chr14:20940627 stopgain 0.692 0 20 hm7G_associated_SNPs_6942 1 Pathogenic Purine-nucleoside phosphorylase deficiency RCV000015033.26
192 chr9 124091559 124091559 1 + C T UCEC 124091560 + 124091540 124091580 41 ATGCAGGAAGACCTGGCAACGGATGACGTCATGCTTCTGGA ATGCAGGAAGACCTGGCAATGGATGACGTCATGCTTCTGGA < 41bp 0.491521615503815 0.700154294672748 Functional Gain 0.208632679168933 - GSN ENSG00000148180 CDS Human protein_coding chr9:124091560 chr9:124091559 nonsynonymous SNV 0.115 4 20 hm7G_associated_SNPs_7931 1 Likely benign Amyloidosis RCV000291668.1
193 chrX 153609262 153609262 1 + G A UCEC 153609263 + 153609243 153609283 41 GAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCAT GAACGCCCCATGTACGGCCAGGACAGTGCCTACCAGAGCAT < 41bp 0.57157281680704 0.776721455819394 Functional Gain 0.205148639012354 - EMD ENSG00000102119 CDS Human protein_coding chrX:153609263 chrX:153609262 nonsynonymous SNV 0.182 1 20 hm7G_associated_SNPs_7963 1 Likely pathogenic Cardiomyopathy RCV000029690.1
194 chr1 156106204 156106204 1 + C T UCEC 156106205 + 156106185 156106225 41 TGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATG TGAGGAGGGCAAGTTTGTCTGGCTGCGCAACAAGTCCAATG < 41bp 0.533093907034289 0.736674836312593 Functional Gain 0.203580929278304 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156106205 chr1:156106204 nonsynonymous SNV 0.996 5 20 hm7G_associated_SNPs_8019 5 Pathogenic Benign scapuloperoneal muscular dystrophy with cardiomyopathy RCV000015565.27
195 chr1 156106204 156106204 1 + C T UCEC 156106205 + 156106185 156106225 41 TGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATG TGAGGAGGGCAAGTTTGTCTGGCTGCGCAACAAGTCCAATG < 41bp 0.533093907034289 0.736674836312593 Functional Gain 0.203580929278304 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156106205 chr1:156106204 nonsynonymous SNV 0.996 5 20 hm7G_associated_SNPs_8019 5 Pathogenic not provided RCV000057273.3
196 chr1 156106204 156106204 1 + C T UCEC 156106205 + 156106185 156106225 41 TGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATG TGAGGAGGGCAAGTTTGTCTGGCTGCGCAACAAGTCCAATG < 41bp 0.533093907034289 0.736674836312593 Functional Gain 0.203580929278304 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156106205 chr1:156106204 nonsynonymous SNV 0.996 5 20 hm7G_associated_SNPs_8019 5 other Limb-girdle muscular dystrophy, type 1B RCV000230383.2
197 chr1 156106204 156106204 1 + C T UCEC 156106205 + 156106185 156106225 41 TGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATG TGAGGAGGGCAAGTTTGTCTGGCTGCGCAACAAGTCCAATG < 41bp 0.533093907034289 0.736674836312593 Functional Gain 0.203580929278304 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156106205 chr1:156106204 nonsynonymous SNV 0.996 5 20 hm7G_associated_SNPs_8019 5 Pathogenic Charcot-Marie-Tooth disease, type 2 RCV000472112.1
198 chr1 156106204 156106204 1 + C T UCEC 156106205 + 156106185 156106225 41 TGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATG TGAGGAGGGCAAGTTTGTCTGGCTGCGCAACAAGTCCAATG < 41bp 0.533093907034289 0.736674836312593 Functional Gain 0.203580929278304 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156106205 chr1:156106204 nonsynonymous SNV 0.996 5 20 hm7G_associated_SNPs_8019 5 Pathogenic Muscular dystrophy RCV000500734.1
199 chr8 19813384 19813384 1 + C T UCEC 19813385 + 19813365 19813405 41 AGTGAAGTGCTCCCACGAGCGCTCCATTCATCTCTTCATCG AGTGAAGTGCTCCCACGAGTGCTCCATTCATCTCTTCATCG < 41bp 0.49414070332539 0.703418981310151 Functional Gain 0.209278277984761 - LPL ENSG00000175445 CDS Human protein_coding chr8:19813385 chr8:19813384 nonsynonymous SNV 0.964 5 20 hm7G_associated_SNPs_8113 1 Pathogenic Hyperlipoproteinemia, type I RCV000001613.2
200 chr1 156105746 156105746 1 + C T UCEC 156105747 + 156105727 156105767 41 GGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGC GGACTCACTGGCCCGTGAGTGGGACACCAGCCGGCGGCTGC < 41bp 0.487600053933606 0.70287137733337 Functional Gain 0.215271323399764 - LMNA ENSG00000160789 CDS Human protein_coding chr1:156105747 chr1:156105746 nonsynonymous SNV 0.998 5 20 hm7G_associated_SNPs_8136 1 Uncertain significance not specified RCV000236116.2
201 chr3 128627872 128627872 1 + G A UCEC 128627873 + 128627853 128627893 41 ACCGTTGGCCGGAGGCTTCGGGACTCCCTGGGCCGAACTGT ACCGTTGGCCGGAGGCTTCAGGACTCCCTGGGCCGAACTGT < 41bp 0.53820322658449 0.744705288102461 Functional Gain 0.20650206151797 - ACAD9 ENSG00000177646 CDS Human protein_coding chr3:128627873 chr3:128627872 nonsynonymous SNV 0.021 1 20 hm7G_associated_SNPs_8160 1 Uncertain significance Acyl-CoA dehydrogenase family, member 9, deficiency of RCV000353818.1
202 chr16 29809965 29809965 1 + G A UCEC 29809966 + 29809946 29809986 41 CAACCTGGGGTGATCCCGCGGGCTCTCATGGACCTCCTGCA CAACCTGGGGTGATCCCGCAGGCTCTCATGGACCTCCTGCA < 41bp 0.546587102524113 0.760354616748394 Functional Gain 0.213767514224281 - KIF22 ENSG00000079616 CDS Human protein_coding chr16:29809966 chr16:29809965 nonsynonymous SNV 0.951 3 20 hm7G_associated_SNPs_8164 2 Pathogenic Spondyloepimetaphyseal dysplasia with multiple dislocations RCV000023270.2
203 chr16 29809965 29809965 1 + G A UCEC 29809966 + 29809946 29809986 41 CAACCTGGGGTGATCCCGCGGGCTCTCATGGACCTCCTGCA CAACCTGGGGTGATCCCGCAGGCTCTCATGGACCTCCTGCA < 41bp 0.546587102524113 0.760354616748394 Functional Gain 0.213767514224281 - KIF22 ENSG00000079616 CDS Human protein_coding chr16:29809966 chr16:29809965 nonsynonymous SNV 0.951 3 20 hm7G_associated_SNPs_8164 2 Pathogenic not provided RCV000479053.1
204 chr5 179263500 179263500 1 + C T UCEC 179263501 + 179263481 179263521 41 TGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTG TGGGCTTCTCTGATGAAGGTGGCTGGCTCACCAGGCTCCTG < 41bp 0.502274675593014 0.709900327597403 Functional Gain 0.207625652004389 - SQSTM1 ENSG00000161011 CDS Human protein_coding chr5:179263501 chr5:179263500 nonsynonymous SNV 0.998 1 20 hm7G_associated_SNPs_8211 1 Likely benign not specified RCV000420992.1
205 chr5 149754338 149754338 1 + C T UCEC 149754339 + 149754319 149754359 41 AGGACTCGCAGAGCAGCAGCGAGGAATCGGACAGTGAGGAG AGGACTCGCAGAGCAGCAGTGAGGAATCGGACAGTGAGGAG < 41bp 0.48932423711336 0.700511361612561 Functional Gain 0.211187124499201 - TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149754339 chr5:149754338 synonymous SNV . 0 20 hm7G_associated_SNPs_8300 1 Likely benign Treacher Collins syndrome 1 RCV000190968.1
206 chr16 2548333 2548333 1 + C T UCEC 2548334 + 2548314 2548354 41 CTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCC CTGGTCCTGGGTCCCCGAGTGCTTTGCCCTGTGCCAGCCCC < 41bp 0.527147792257622 0.7396119923006 Functional Gain 0.212464200042978 - TBC1D24 ENSG00000162065 CDS Human protein_coding chr16:2548334 chr16:2548333 nonsynonymous SNV 0.882 4 20 hm7G_associated_SNPs_8367 1 Pathogenic Parkinsonism RCV000417200.1
207 chr19 50919693 50919693 1 + C T UCEC 50919694 + 50919674 50919714 41 CACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCA CACAGCCTGCCCATTGACATGCAGTACTACCTGGAGCAGCA < 41bp 0.53155975067151 0.734962758984143 Functional Gain 0.203403008312633 - POLD1 ENSG00000062822;ENSG00000142539 CDS Human other chr19:50919694 chr19:50919693 nonsynonymous SNV 0.993 4 20 hm7G_associated_SNPs_8400 2 Uncertain significance Colorectal cancer 10 RCV000226033.2
208 chr19 50919693 50919693 1 + C T UCEC 50919694 + 50919674 50919714 41 CACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCA CACAGCCTGCCCATTGACATGCAGTACTACCTGGAGCAGCA < 41bp 0.53155975067151 0.734962758984143 Functional Gain 0.203403008312633 - POLD1 ENSG00000062822;ENSG00000142539 CDS Human other chr19:50919694 chr19:50919693 nonsynonymous SNV 0.993 4 20 hm7G_associated_SNPs_8400 2 Uncertain significance not specified RCV000480742.1
209 chr10 75874625 75874625 1 + C T UCEC 75874626 + 75874606 75874646 41 GAAGGCCACCATGCTGGGCCGGACCAACATCAGTGATGAGG GAAGGCCACCATGCTGGGCTGGACCAACATCAGTGATGAGG < 41bp 0.48697774561727 0.705653069605701 Functional Gain 0.218675323988431 - VCL ENSG00000035403 CDS Human protein_coding chr10:75874626 chr10:75874625 nonsynonymous SNV 0.997 4 20 hm7G_associated_SNPs_8448 1 Uncertain significance not specified RCV000038825.2
210 chr3 128618292 128618292 1 + C T UCEC 128618293 + 128618273 128618313 41 CGAAGATAAATTAGGCATTCGGGGCTCCAACAGTAAGTAGC CGAAGATAAATTAGGCATTTGGGGCTCCAACAGTAAGTAGC < 41bp 0.4917394634235 0.705203535594405 Functional Gain 0.213464072170905 - ACAD9 ENSG00000177646 CDS Human protein_coding chr3:128618293 chr3:128618292 nonsynonymous SNV 0.994 4 20 hm7G_associated_SNPs_8471 1 Pathogenic Acyl-CoA dehydrogenase family, member 9, deficiency of RCV000201531.1
211 chr19 50917085 50917085 1 + G A UCEC 50917086 + 50917066 50917106 41 CCCTGGGGCGGGAGGCCGCGGACTGGGTGTCAGGTCACTTC CCCTGGGGCGGGAGGCCGCAGACTGGGTGTCAGGTCACTTC < 41bp 0.55639429807853 0.760996024969578 Functional Gain 0.204601726891047 - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50917086 chr19:50917085 synonymous SNV . 0 20 hm7G_associated_SNPs_8537 2 Likely benign Colorectal cancer 10 RCV000228991.2
212 chr19 50917085 50917085 1 + G A UCEC 50917086 + 50917066 50917106 41 CCCTGGGGCGGGAGGCCGCGGACTGGGTGTCAGGTCACTTC CCCTGGGGCGGGAGGCCGCAGACTGGGTGTCAGGTCACTTC < 41bp 0.55639429807853 0.760996024969578 Functional Gain 0.204601726891047 - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50917086 chr19:50917085 synonymous SNV . 0 20 hm7G_associated_SNPs_8537 2 Likely benign not specified RCV000440964.1
213 chr9 137620521 137620521 1 + G T UCS 137620522 + 137620502 137620542 41 CAATTCGCTTTCAGTACACGGAAGGAGACGGCGAGGGTGAG CAATTCGCTTTCAGTACACTGAAGGAGACGGCGAGGGTGAG < 41bp 0.463017410556616 0.76976312816801 Functional Gain 0.306745717611394 - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137620522 chr9:137620521 synonymous SNV . 0 20 hm7G_associated_SNPs_8577 1 Likely benign Ehlers-Danlos syndrome, classic type RCV000471660.1