regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACVR1_chr2_157731446_157881330 | 157795377 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp2 HG01978.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0052a0001c0001t0001g0054a0001c0001t0001g0056others(16): Show | 19 | 174 | 0.1092 | -6 | c.67+ others(21): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157811803 | CAACAAA | C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(19): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(7): Show | a0001c0002t0001g0032a0001c0002t0003g0015a0001c0002t0003g0017others(19): Show | 22 | 174 | 0.1264 | -6 | c.-8+ others(21): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157826796 | GGGAAAA | G | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02257.hp2 others(16): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0003a0001c0002t0015a0001c0002t0020others(4): Show | a0001c0002t0003g0015a0001c0002t0003g0017a0001c0002t0003g0094others(16): Show | 19 | 174 | 0.1092 | -6 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157855269 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG01261.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0057a0001c0001t0002g0128a0001c0002t0001g0089others(4): Show | 7 | 174 | 0.0402 | -6 | c.-18 others(27): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157855323 | TACACAC | T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02055.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0002t0005a0001c0003t0005others(1): Show | a0001c0001t0010g0003a0001c0002t0005g0001a0001c0002t0005g0006others(3): Show | 6 | 174 | 0.0345 | -6 | c.-18 others(27): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157862422 | TACACAC | T | intron_variant | MODIFIER | HG02897.hp1 HG03579.hp2 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0015 | a0001c0002t0003g0094a0001c0002t0003g0095a0001c0002t0015g0096 | 3 | 174 | 0.0172 | -6 | c.-18 others(27): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157863011 | CTTTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG02004.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(7): Show | a0001c0001t0002g0141a0001c0001t0004g0164a0001c0001t0013g0166others(10): Show | 13 | 174 | 0.0747 | -6 | c.-18 others(27): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157878760 | AGTGTGT | A | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02004.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(7): Show | a0001c0001t0002g0013a0001c0001t0002g0070a0001c0001t0002g0097others(19): Show | 22 | 174 | 0.1264 | -6 | c.-31 others(17): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2431 | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147881637 | GTGTGTA | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0013a0001c0001t0002g0151a0001c0001t0002g0153others(36): Show | 40 | 338 | 0.1183 | -6 | c.56- others(23): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38492731 | TACACAC | T | 3_prime_UTR_variant | MODIFIER | HG00673.hp1 HG01167.hp2 HG01346.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0072a0001c0001t0135others(3): Show | a0001c0001t0016g0004a0001c0001t0072g0017a0001c0001t0135g0077others(3): Show | 9 | 410 | 0.0220 | -6 | c.*94 others(17): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9467 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACVR2B_chr3_38448890_38498142 | 38492799 | CACACAT | C | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 NA18949.hp1 NA18987.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0118a0001c0001t0132a0001c0001t0139others(1): Show | a0001c0001t0118g0078a0001c0001t0132g0005a0001c0001t0139g0018others(1): Show | 4 | 410 | 0.0098 | -6 | c.*94 others(17): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9472 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACY1_chr3_51978535_51994197 | 51993837 | TCCTTGG | T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(52): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(16): Show | 55 | 338 | 0.1627 | -6 | c.*47 others(17): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 4641 | chr3 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67644732 | CCACACA | C | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG03130.hp1 others(3): Show |
a0002 | a0002c0005 | a0002c0005t0002a0002c0005t0003 | a0002c0005t0002g0018a0002c0005t0002g0040a0002c0005t0003g0052 | 6 | 396 | 0.0152 | -6 | c.744 others(19): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 7/7 | chr11 | TogoVar | ||||||
ACYP1_chr14_75048243_75069024 | 75067182 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(30): Show | 84 | 322 | 0.2609 | -6 | c.-32 others(17): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 3159 | chr14 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53973853 | ATATGTG | A | intron_variant | MODIFIER | HG00558.hp2 HG02965.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257a0001c0001t0001g0258a0001c0001t0001g0259others(1): Show | 4 | 272 | 0.0147 | -6 | c.62+ others(17): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 53973855 | ATGTGTG | A | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01070.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0105a0001c0001t0001g0147a0001c0001t0001g0148others(25): Show | 28 | 272 | 0.1029 | -6 | c.62+ others(17): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 53982828 | CTGTGTG | C | intron_variant | MODIFIER | HG01081.hp1 HG01168.hp2 HG01256.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0045a0001c0002t0002g0046a0001c0002t0002g0047others(6): Show | 9 | 272 | 0.0331 | -6 | c.62+ others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54000479 | GCTTTTC | G | intron_variant | MODIFIER | HG02630.hp2 HG03130.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174a0001c0001t0001g0192a0001c0001t0001g0193others(1): Show | 4 | 272 | 0.0147 | -6 | c.62+ others(23): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54013255 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00597.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0002others(6): Show | a0001c0001t0001g0115a0001c0001t0001g0119a0001c0001t0001g0125others(48): Show | 51 | 272 | 0.1875 | -6 | c.63- others(23): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54015645 | TCACACA | T | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG01109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0118others(8): Show | 11 | 272 | 0.0404 | -6 | c.63- others(23): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54038673 | CTATATA | C | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0237a0001c0001t0001g0260 | 3 | 272 | 0.0110 | -6 | c.63- others(23): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54039819 | TTGTGTG | T | intron_variant | MODIFIER | HG02809.hp1 HG02886.hp2 HG03098.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0127a0001c0001t0001g0175a0001c0001t0001g0219others(4): Show | 7 | 272 | 0.0257 | -6 | c.63- others(23): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54102638 | CAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01243.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0001g0117a0001c0001t0001g0120a0001c0001t0001g0127others(20): Show | 23 | 272 | 0.0846 | -6 | c.278 others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54142017 | TTTGTTG | T | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01243.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(6): Show | a0001c0001t0001g0105a0001c0001t0001g0208a0001c0001t0001g0210others(22): Show | 25 | 272 | 0.0919 | -6 | c.404 others(23): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54151106 | GTTAGAA | G | intron_variant | MODIFIER | HG02615.hp1 HG02970.hp2 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0109a0001c0002t0003g0110a0001c0002t0003g0111 | 3 | 272 | 0.0110 | -6 | c.404 others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54165515 | ACTCTCT | A | intron_variant | MODIFIER | HG02004.hp1 HG02109.hp2 HG02622.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0196a0001c0001t0004g0121a0001c0002t0001g0099others(5): Show | 8 | 272 | 0.0294 | -6 | c.404 others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54165531 | TCTCTCA | T | intron_variant | MODIFIER | HG00738.hp2 HG02559.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0236a0001c0002t0001g0098a0001c0002t0001g0100others(6): Show | 9 | 272 | 0.0331 | -6 | c.404 others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54201604 | CTTTCTT | C | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193a0001c0001t0001g0243a0001c0001t0001g0263 | 3 | 272 | 0.0110 | -6 | c.404 others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54201680 | TTCTCTC | T | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003 | a0001c0001t0001g0193a0001c0001t0001g0243a0001c0001t0001g0263others(2): Show | 5 | 272 | 0.0184 | -6 | c.404 others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54203409 | AATAGAG | A | intron_variant | MODIFIER | HG03139.hp1 HG03471.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0006 | a0001c0001t0001g0130a0001c0002t0002g0108a0001c0002t0006g0006 | 3 | 272 | 0.0110 | -6 | c.404 others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54210141 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0115a0001c0001t0001g0117others(53): Show | 56 | 272 | 0.2059 | -6 | c.404 others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54255566 | GGGGCCC | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(33): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0115a0001c0001t0001g0117others(33): Show | 36 | 272 | 0.1324 | -6 | c.405 others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54276619 | TCACACA | T | intron_variant | MODIFIER | HG01081.hp1 HG01515.hp2 HG01517.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0193a0001c0001t0001g0212a0001c0001t0001g0214others(4): Show | 7 | 272 | 0.0257 | -6 | c.405 others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54292669 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00597.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0150a0001c0001t0001g0151a0001c0001t0001g0157others(21): Show | 24 | 272 | 0.0882 | -6 | c.405 others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54304218 | CTGTGTG | C | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02559.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0233a0001c0001t0001g0263a0001c0002t0001g0100others(7): Show | 10 | 272 | 0.0368 | -6 | c.405 others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADA2_chr22_17173790_17224435 | 17174366 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(77): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(29): Show | a0001c0001t0003g0172a0001c0001t0003g0187a0001c0001t0003g0287others(77): Show | 80 | 408 | 0.1961 | -6 | c.*71 others(17): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4423 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17178735 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01167.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0009a0001c0001t0013a0001c0001t0015others(11): Show | a0001c0001t0009g0076a0001c0001t0009g0277a0001c0001t0009g0279others(25): Show | 28 | 408 | 0.0686 | -6 | c.*27 others(17): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 54 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17208821 | TAAAAAA | T | intron_variant | MODIFIER | HG00423.hp2 HG01346.hp2 HG01934.hp1 others(12): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0001g0166a0001c0001t0001g0168a0001c0001t0001g0171others(12): Show | 15 | 408 | 0.0368 | -6 | c.322 others(21): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17222474 | GTGTATA | G | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01106.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0004a0001c0003t0004a0001c0003t0008others(7): Show | a0001c0001t0004g0004a0001c0001t0004g0329a0001c0001t0004g0381others(10): Show | 13 | 408 | 0.0319 | -6 | c.-31 others(17): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3040 | chr22 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122378285 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01169.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0043others(8): Show | 11 | 376 | 0.0293 | -6 | c.-91 others(15): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 725 | chr4 | TogoVar | ||||||
ADAL_chr15_43325672_43359569 | 43334633 | TTATATA | T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01255.hp2 others(22): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0005a0001c0001t0002g0018a0001c0001t0002g0156others(10): Show | 25 | 386 | 0.0648 | -6 | c.-16 others(23): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAM10_chr15_58583809_58754707 | 58586916 | AGTGTGT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01109.hp1 HG01167.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0088others(4): Show | a0001c0001t0006g0087a0001c0001t0014g0002a0001c0001t0014g0004others(6): Show | 9 | 342 | 0.0263 | -6 | c.*10 others(19): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1892 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTTT | A | 3_prime_UTR_variant | MODIFIER | HG01106.hp2 HG01175.hp1 HG01257.hp1 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0064a0001c0001t0068others(1): Show | a0001c0001t0004g0197a0001c0001t0004g0198a0001c0001t0004g0201others(13): Show | 16 | 342 | 0.0468 | -6 | c.*43 others(17): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4392 | chr15 | TogoVar | |||||
ADAM10_chr15_58583809_58754707 | 58672786 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01069.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0108a0001c0001t0001g0135a0001c0001t0001g0136others(28): Show | 31 | 342 | 0.0906 | -6 | c.484 others(23): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 4/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58685545 | AATATAT | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01516.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023a0001c0001t0033others(7): Show | a0001c0001t0003g0237a0001c0001t0023g0050a0001c0001t0033g0039others(8): Show | 11 | 342 | 0.0322 | -6 | c.207 others(23): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM11_chr17_44753988_44786846 | 44765610 | CTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00639.hp1 others(53): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0033others(38): Show | 56 | 336 | 0.1667 | -6 | c.238 others(23): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ADAM12_chr10_126007391_126393477 | 126152008 | GTTTTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(133): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0004others(32): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(78): Show | a0001c0002t0001g0042a0001c0002t0001g0044a0001c0002t0001g0065others(133): Show | 136 | 252 | 0.5397 | -6 | c.339 others(23): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 4/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126177052 | ACACACG | A | intron_variant | MODIFIER | HG01192.hp1 HG03453.hp2 HG03579.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0020others(1): Show | a0001c0002t0008a0001c0003t0003a0001c0020t0021others(1): Show | a0001c0002t0008g0214a0001c0003t0003g0133a0001c0020t0021g0174others(1): Show | 4 | 252 | 0.0159 | -6 | c.261 others(25): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126178408 | CTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(66): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0003a0001c0004others(24): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(48): Show | a0001c0002t0001g0042a0001c0002t0001g0044a0001c0002t0001g0065others(66): Show | 69 | 252 | 0.2738 | -6 | c.261 others(25): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126226043 | GGGAACA | G | intron_variant | MODIFIER | HG00423.hp2 HG01099.hp1 HG02559.hp1 others(8): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0005a0001c0002t0008a0001c0003t0013others(8): Show | a0001c0002t0005g0250a0001c0002t0008g0201a0001c0003t0013g0183others(8): Show | 11 | 252 | 0.0437 | -6 | c.260 others(25): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar |