view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRV1_chr5_90553797_91169437 | 90692687 | A | G | missense_variant | MODERATE | HG00621.hp1 HG00741.hp2 HG01167.hp1 others(33): Show |
a0001a0007a0014others(12): Show | a0001c0001a0001c0008a0007c0019others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(15): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(33): Show |
36 | 156 | 0.2308 | 0 | c.703 others(4): Show |
p.Asn others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 32/90 | 7133/19557 | 7034/18921 | 2345/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90692732 | G | A | missense_variant | MODERATE | HG03098.hp2 | a0057 | a0057c0093 | a0057c0093t0001 | a0057c0093t0001g0139 | 1 | 156 | 0.0064 | 0 | c.707 others(4): Show |
p.Arg others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 32/90 | 7178/19557 | 7079/18921 | 2360/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90693985 | A | G | missense_variant | MODERATE | HG01891.hp2 HG03453.hp2 NA18906.hp2 others(2): Show |
a0017a0034a0068others(1): Show | a0017c0029a0017c0030a0034c0028others(2): Show | a0017c0029t0001a0017c0030t0001a0034c0028t0001others(2): Show | a0017c0029t0001g0151 a0017c0030t0001g0152 a0034c0028t0001g0153 others(2): Show |
5 | 156 | 0.0321 | 0 | c.722 others(4): Show |
p.Tyr others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 33/90 | 7328/19557 | 7229/18921 | 2410/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90694332 | A | G | missense_variant | MODERATE | HG01891.hp2 HG03453.hp2 NA18906.hp2 others(1): Show |
a0017a0034a0068 | a0017c0029a0017c0030a0034c0028others(1): Show | a0017c0029t0001a0017c0030t0001a0034c0028t0001others(1): Show | a0017c0029t0001g0151 a0017c0030t0001g0152 a0034c0028t0001g0153 others(1): Show |
4 | 156 | 0.0256 | 0 | c.757 others(4): Show |
p.Ile others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 33/90 | 7675/19557 | 7576/18921 | 2526/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90694507 | A | G | missense_variant | MODERATE | HG00621.hp1 HG00621.hp2 HG00741.hp1 others(125): Show |
a0001a0002a0004others(63): Show | a0001c0001a0001c0008a0002c0002others(79): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(83): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(125): Show |
128 | 156 | 0.8205 | 0 | c.775 others(4): Show |
p.Asn others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 33/90 | 7850/19557 | 7751/18921 | 2584/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90694569 | T | G | missense_variant | MODERATE | HG01884.hp2 HG02976.hp2 HG03209.hp1 others(1): Show |
a0032a0054a0059others(1): Show | a0032c0049a0054c0048a0059c0050others(1): Show | a0032c0049t0001a0054c0048t0003a0059c0050t0001others(1): Show | a0032c0049t0001g0066 a0054c0048t0003g0065 a0059c0050t0001g0150 others(1): Show |
4 | 156 | 0.0256 | 0 | c.781 others(4): Show |
p.Leu others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 33/90 | 7912/19557 | 7813/18921 | 2605/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90697098 | G | A | missense_variant | MODERATE | HG02717.hp2 | a0049 | a0049c0059 | a0049c0059t0001 | a0049c0059t0001g0059 | 1 | 156 | 0.0064 | 0 | c.810 others(4): Show |
p.Gly others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 34/90 | 8206/19557 | 8107/18921 | 2703/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90703692 | G | T | missense_variant | MODERATE | HG02486.hp1 | a0041 | a0041c0090 | a0041c0090t0004 | a0041c0090t0004g0101 | 1 | 156 | 0.0064 | 0 | c.818 others(4): Show |
p.Arg others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 35/90 | 8282/19557 | 8183/18921 | 2728/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90704393 | C | T | missense_variant | MODERATE | HG00741.hp1 HG01358.hp1 HG01981.hp2 others(10): Show |
a0005a0008a0023others(5): Show | a0005c0006a0008c0018a0023c0086others(5): Show | a0005c0006t0002a0008c0018t0001a0023c0086t0001others(5): Show | a0005c0006t0002g0076 a0005c0006t0002g0083 a0005c0006t0002g0092 others(10): Show |
13 | 156 | 0.0833 | 0 | c.829 others(4): Show |
p.Ser others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 36/90 | 8390/19557 | 8291/18921 | 2764/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90708900 | C | T | missense_variant | MODERATE | HG02572.hp2 HG02896.hp1 |
a0043a0053 | a0043c0045a0053c0046 | a0043c0045t0001a0053c0046t0003 | a0043c0045t0001g0005 a0053c0046t0003g0004 |
2 | 156 | 0.0128 | 0 | c.881 others(4): Show |
p.Pro others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 39/90 | 8914/19557 | 8815/18921 | 2939/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90711032 | G | A | missense_variant | MODERATE | HG00741.hp2 HG01361.hp1 HG01496.hp1 others(3): Show |
a0007a0028a0030others(2): Show | a0007c0019a0028c0062a0030c0060others(2): Show | a0007c0019t0001a0028c0062t0001a0030c0060t0003others(2): Show | a0007c0019t0001g0063 a0007c0019t0001g0064 a0028c0062t0001g0032 others(3): Show |
6 | 156 | 0.0385 | 0 | c.887 others(4): Show |
p.Arg others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 40/90 | 8975/19557 | 8876/18921 | 2959/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90711292 | A | C | missense_variant | MODERATE | HG02683.hp2 | a0046 | a0046c0089 | a0046c0089t0001 | a0046c0089t0001g0068 | 1 | 156 | 0.0064 | 0 | c.901 others(4): Show |
p.Gln others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 41/90 | 9111/19557 | 9012/18921 | 3004/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90716562 | G | A | missense_variant | MODERATE | HG03209.hp2 HG03669.hp2 HG03710.hp2 others(1): Show |
a0018a0060a0065 | a0018c0047a0018c0052a0060c0097others(1): Show | a0018c0047t0003a0018c0052t0003a0060c0097t0001others(1): Show | a0018c0047t0003g0013 a0018c0052t0003g0014 a0060c0097t0001g0147 others(1): Show |
4 | 156 | 0.0256 | 0 | c.928 others(4): Show |
p.Val others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 43/90 | 9379/19557 | 9280/18921 | 3094/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90716722 | G | A | missense_variant | MODERATE | HG02717.hp1 | a0048 | a0048c0094 | a0048c0094t0001 | a0048c0094t0001g0080 | 1 | 156 | 0.0064 | 0 | c.944 others(4): Show |
p.Arg others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 43/90 | 9539/19557 | 9440/18921 | 3147/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90720207 | T | A | missense_variant | MODERATE | HG03540.hp2 | a0064 | a0064c0067 | a0064c0067t0001 | a0064c0067t0001g0146 | 1 | 156 | 0.0064 | 0 | c.960 others(4): Show |
p.Ser others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 44/90 | 9706/19557 | 9607/18921 | 3203/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90721054 | G | A | missense_variant | MODERATE | HG00621.hp2 HG00741.hp1 HG01106.hp1 others(45): Show |
a0002a0004a0005others(12): Show | a0002c0002a0002c0012a0002c0017others(23): Show | a0002c0002t0001a0002c0002t0002a0002c0012t0001others(25): Show | a0002c0002t0001g0025 a0002c0002t0001g0071 a0002c0002t0001g0072 others(45): Show |
48 | 156 | 0.3077 | 0 | c.974 others(4): Show |
p.Gly others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 45/90 | 9842/19557 | 9743/18921 | 3248/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90725218 | T | C | missense_variant | MODERATE | HG01891.hp2 HG03453.hp2 NA18906.hp2 others(1): Show |
a0017a0034a0068 | a0017c0029a0017c0030a0034c0028others(1): Show | a0017c0029t0001a0017c0030t0001a0034c0028t0001others(1): Show | a0017c0029t0001g0151 a0017c0030t0001g0152 a0034c0028t0001g0153 others(1): Show |
4 | 156 | 0.0256 | 0 | c.100 others(5): Show |
p.Phe others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 47/90 | 10138/19557 | 10039/18921 | 3347/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90728918 | G | A | missense_variant | MODERATE | HG00621.hp1 HG00621.hp2 HG00741.hp1 others(128): Show |
a0001a0002a0004others(64): Show | a0001c0001a0001c0008a0002c0002others(82): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(86): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(128): Show |
131 | 156 | 0.8397 | 0 | c.104 others(5): Show |
p.Glu others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 49/90 | 10510/19557 | 10411/18921 | 3471/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90745073 | T | C | missense_variant | MODERATE | HG01358.hp1 | a0027 | a0027c0084 | a0027c0084t0001 | a0027c0084t0001g0099 | 1 | 156 | 0.0064 | 0 | c.105 others(5): Show |
p.Met others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 51/90 | 10676/19557 | 10577/18921 | 3526/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90745103 | G | A | missense_variant | MODERATE | HG02572.hp2 HG02896.hp1 NA19043.hp1 others(1): Show |
a0043a0053a0072others(1): Show | a0043c0045a0053c0046a0072c0044others(1): Show | a0043c0045t0001a0053c0046t0003a0072c0044t0003others(1): Show | a0043c0045t0001g0005 a0053c0046t0003g0004 a0072c0044t0003g0003 others(1): Show |
4 | 156 | 0.0256 | 0 | c.106 others(5): Show |
p.Arg others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 51/90 | 10706/19557 | 10607/18921 | 3536/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90756472 | G | A | missense_variant | MODERATE | HG00621.hp1 HG01167.hp1 HG01192.hp1 others(29): Show |
a0001a0005a0020others(6): Show | a0001c0001a0001c0008a0005c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(9): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(29): Show |
32 | 156 | 0.2051 | 0 | c.115 others(5): Show |
p.Glu others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 56/90 | 11698/19557 | 11599/18921 | 3867/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90759422 | T | C | missense_variant | MODERATE | NA18965.hp1 | a0069 | a0069c0064 | a0069c0064t0001 | a0069c0064t0001g0031 | 1 | 156 | 0.0064 | 0 | c.119 others(5): Show |
p.Ile others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 58/90 | 12053/19557 | 11954/18921 | 3985/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90777969 | G | A | missense_variant | MODERATE | HG01243.hp1 HG02615.hp2 HG02976.hp2 |
a0024a0044a0054 | a0024c0099a0044c0061a0054c0048 | a0024c0099t0001a0044c0061t0001a0054c0048t0003 | a0024c0099t0001g0001 a0044c0061t0001g0043 a0054c0048t0003g0065 |
3 | 156 | 0.0192 | 0 | c.125 others(5): Show |
p.Val others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 62/90 | 12691/19557 | 12592/18921 | 4198/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90779052 | C | T | missense_variant | MODERATE | HG03195.hp2 HG03453.hp1 |
a0058a0061 | a0058c0063a0061c0073 | a0058c0063t0001a0061c0073t0001 | a0058c0063t0001g0040 a0061c0073t0001g0157 |
2 | 156 | 0.0128 | 0 | c.130 others(5): Show |
p.Pro others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 64/90 | 13136/19557 | 13037/18921 | 4346/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90789837 | T | C | missense_variant | MODERATE | HG02258.hp1 HG02451.hp2 HG02647.hp1 others(4): Show |
a0011a0012a0045others(2): Show | a0011c0055a0011c0056a0012c0013others(3): Show | a0011c0055t0001a0011c0056t0001a0012c0013t0001others(3): Show | a0011c0055t0001g0021 a0011c0056t0001g0022 a0012c0013t0001g0041 others(4): Show |
7 | 156 | 0.0449 | 0 | c.140 others(5): Show |
p.Phe others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 69/90 | 14128/19557 | 14029/18921 | 4677/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90791344 | C | G | missense_variant others(1): Show |
MODERATE | NA18747.hp2 NA19082.hp2 |
a0021 | a0021c0041a0021c0042 | a0021c0041t0001a0021c0042t0001 | a0021c0041t0001g0128 a0021c0042t0001g0143 |
2 | 156 | 0.0128 | 0 | c.145 others(5): Show |
p.Gln others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 70/90 | 14614/19557 | 14515/18921 | 4839/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90802853 | C | T | missense_variant | MODERATE | HG03209.hp1 | a0059 | a0059c0050 | a0059c0050t0001 | a0059c0050t0001g0150 | 1 | 156 | 0.0064 | 0 | c.146 others(5): Show |
p.Pro others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 71/90 | 14731/19557 | 14632/18921 | 4878/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90802875 | A | G | missense_variant | MODERATE | HG02451.hp2 HG02818.hp2 |
a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0041 a0012c0013t0001g0042 |
2 | 156 | 0.0128 | 0 | c.146 others(5): Show |
p.Asn others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 71/90 | 14753/19557 | 14654/18921 | 4885/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90807670 | T | C | missense_variant | MODERATE | HG02258.hp1 HG02451.hp2 HG02486.hp2 others(6): Show |
a0011a0012a0042others(4): Show | a0011c0055a0011c0056a0012c0013others(5): Show | a0011c0055t0001a0011c0056t0001a0012c0013t0001others(5): Show | a0011c0055t0001g0021 a0011c0056t0001g0022 a0012c0013t0001g0041 others(6): Show |
9 | 156 | 0.0577 | 0 | c.149 others(5): Show |
p.Trp others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 73/90 | 15004/19557 | 14905/18921 | 4969/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90811291 | A | G | missense_variant | MODERATE | HG00621.hp1 HG00621.hp2 HG00741.hp2 others(139): Show |
a0001a0002a0003others(58): Show | a0001c0001a0001c0008a0002c0002others(82): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(86): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(139): Show |
142 | 156 | 0.9103 | 0 | c.160 others(5): Show |
p.Glu others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 74/90 | 16130/19557 | 16031/18921 | 5344/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90823507 | G | A | missense_variant | MODERATE | HG00621.hp1 HG00621.hp2 HG00741.hp1 others(145): Show |
a0001a0002a0003others(63): Show | a0001c0001a0001c0008a0002c0002others(87): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(91): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(145): Show |
148 | 156 | 0.9487 | 0 | c.162 others(5): Show |
p.Val others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 76/90 | 16378/19557 | 16279/18921 | 5427/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90840915 | C | G | missense_variant | MODERATE | HG02486.hp2 | a0042 | a0042c0022 | a0042c0022t0001 | a0042c0022t0001g0141 | 1 | 156 | 0.0064 | 0 | c.169 others(5): Show |
p.Thr others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 78/90 | 17048/19557 | 16949/18921 | 5650/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90855772 | G | A | missense_variant | MODERATE | HG00621.hp1 HG01106.hp1 HG01167.hp1 others(55): Show |
a0001a0004a0005others(21): Show | a0001c0001a0001c0008a0004c0005others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(31): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(55): Show |
58 | 156 | 0.3718 | 0 | c.176 others(5): Show |
p.Val others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 82/90 | 17725/19557 | 17626/18921 | 5876/6306 | chr5 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 91150072 | A | G | missense_variant | MODERATE | HG01496.hp1 HG01891.hp1 HG02155.hp2 others(11): Show |
a0010a0018a0020others(8): Show | a0010c0070a0010c0072a0018c0047others(11): Show | a0010c0070t0003a0010c0072t0001a0018c0047t0003others(11): Show | a0010c0070t0003g0057 a0010c0072t0001g0009 a0018c0047t0003g0013 others(11): Show |
14 | 156 | 0.0897 | 0 | c.184 others(5): Show |
p.Met others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 88/90 | 18574/19557 | 18475/18921 | 6159/6306 | chr5 | TogoVar | |||
ADH1A_chr4_99271369_99295985 | 99284449 | T | C | missense_variant | MODERATE | HG02572.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0083 | 1 | 336 | 0.0030 | 0 | c.517 others(3): Show |
p.Ile others(6): Show |
ADH1A | ENSG00000187758.8 | transcript | ENST00000209668.3 | protein_coding | 5/9 | 588/1454 | 517/1128 | 173/375 | chr4 | TogoVar | |||
ADH1A_chr4_99271369_99295985 | 99284728 | C | T | missense_variant | MODERATE | HG04228.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0060 | 1 | 336 | 0.0030 | 0 | c.335 others(3): Show |
p.Cys others(6): Show |
ADH1A | ENSG00000187758.8 | transcript | ENST00000209668.3 | protein_coding | 4/9 | 406/1454 | 335/1128 | 112/375 | chr4 | TogoVar | |||
ADH1B_chr4_99299971_99326401 | 99307859 | C | T | missense_variant | MODERATE | HG02257.hp1 NA18960.hp1 |
a0003 | a0003c0008 | a0003c0008t0004a0003c0008t0006 | a0003c0008t0004g0064 a0003c0008t0006g0104 |
2 | 362 | 0.0055 | 0 | c.110 others(4): Show |
p.Arg others(6): Show |
ADH1B | ENSG00000196616.15 | transcript | ENST00000305046.13 | protein_coding | 9/9 | 1179/4067 | 1109/1128 | 370/375 | chr4 | TogoVar | |||
ADH1B_chr4_99299971_99326401 | 99307860 | G | A | missense_variant | MODERATE | HG00735.hp2 HG01167.hp2 HG01169.hp1 others(17): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0002a0003c0004t0008a0003c0005t0002others(1): Show | a0003c0004t0002g0006 a0003c0004t0002g0073 a0003c0004t0008g0077 others(3): Show |
20 | 362 | 0.0552 | 0 | c.110 others(4): Show |
p.Arg others(6): Show |
ADH1B | ENSG00000196616.15 | transcript | ENST00000305046.13 | protein_coding | 9/9 | 1178/4067 | 1108/1128 | 370/375 | chr4 | TogoVar | |||
ADH1B_chr4_99299971_99326401 | 99311547 | C | A | missense_variant | MODERATE | HG02622.hp1 | a0005 | a0005c0011 | a0005c0011t0017 | a0005c0011t0017g0096 | 1 | 362 | 0.0028 | 0 | c.938 others(3): Show |
p.Arg others(6): Show |
ADH1B | ENSG00000196616.15 | transcript | ENST00000305046.13 | protein_coding | 7/9 | 1008/4067 | 938/1128 | 313/375 | chr4 | TogoVar | |||
ADH1B_chr4_99299971_99326401 | 99311566 | T | C | missense_variant | MODERATE | NA19084.hp1 | a0006 | a0006c0012 | a0006c0012t0003 | a0006c0012t0003g0086 | 1 | 362 | 0.0028 | 0 | c.919 others(3): Show |
p.Met others(6): Show |
ADH1B | ENSG00000196616.15 | transcript | ENST00000305046.13 | protein_coding | 7/9 | 989/4067 | 919/1128 | 307/375 | chr4 | TogoVar | |||
ADH1B_chr4_99299971_99326401 | 99318127 | T | A | missense_variant | MODERATE | HG00738.hp2 | a0004 | a0004c0015 | a0004c0015t0002 | a0004c0015t0002g0082 | 1 | 362 | 0.0028 | 0 | c.178 others(3): Show |
p.Thr others(5): Show |
ADH1B | ENSG00000196616.15 | transcript | ENST00000305046.13 | protein_coding | 3/9 | 248/4067 | 178/1128 | 60/375 | chr4 | TogoVar | |||
ADH1B_chr4_99299971_99326401 | 99318162 | T | C | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(288): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(69): Show | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0026 others(105): Show |
291 | 362 | 0.8039 | 0 | c.143 others(3): Show |
p.His others(5): Show |
ADH1B | ENSG00000196616.15 | transcript | ENST00000305046.13 | protein_coding | 3/9 | 213/4067 | 143/1128 | 48/375 | chr4 | TogoVar | |||
ADH1C_chr4_99331497_99357746 | 99339589 | C | T | missense_variant | MODERATE | HG02056.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0068 | 1 | 358 | 0.0028 | 0 | c.109 others(4): Show |
p.Arg others(6): Show |
ADH1C | ENSG00000248144.6 | transcript | ENST00000515683.6 | protein_coding | 8/9 | 1162/1454 | 1091/1128 | 364/375 | chr4 | TogoVar | |||
ADH1C_chr4_99331497_99357746 | 99339626 | G | T | missense_variant | MODERATE | HG01081.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0148 | 1 | 358 | 0.0028 | 0 | c.105 others(4): Show |
p.Pro others(6): Show |
ADH1C | ENSG00000248144.6 | transcript | ENST00000515683.6 | protein_coding | 8/9 | 1125/1454 | 1054/1128 | 352/375 | chr4 | TogoVar | |||
ADH1C_chr4_99331497_99357746 | 99339632 | T | C | missense_variant | MODERATE | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(63): Show |
a0002a0004 | a0002c0003a0002c0004a0002c0006others(1): Show | a0002c0003t0001a0002c0004t0002a0002c0006t0001others(1): Show | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0024 others(23): Show |
66 | 358 | 0.1844 | 0 | c.104 others(4): Show |
p.Ile others(6): Show |
ADH1C | ENSG00000248144.6 | transcript | ENST00000515683.6 | protein_coding | 8/9 | 1119/1454 | 1048/1128 | 350/375 | chr4 | TogoVar | |||
ADH1C_chr4_99331497_99357746 | 99342808 | C | T | missense_variant | MODERATE | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(63): Show |
a0002a0004 | a0002c0003a0002c0004a0002c0006others(1): Show | a0002c0003t0001a0002c0004t0002a0002c0006t0001others(1): Show | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0024 others(23): Show |
66 | 358 | 0.1844 | 0 | c.815 others(3): Show |
p.Arg others(6): Show |
ADH1C | ENSG00000248144.6 | transcript | ENST00000515683.6 | protein_coding | 6/9 | 886/1454 | 815/1128 | 272/375 | chr4 | TogoVar | |||
ADH1C_chr4_99331497_99357746 | 99347122 | C | T | missense_variant | MODERATE | HG03225.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0123 | 1 | 358 | 0.0028 | 0 | c.143 others(3): Show |
p.Arg others(5): Show |
ADH1C | ENSG00000248144.6 | transcript | ENST00000515683.6 | protein_coding | 3/9 | 214/1454 | 143/1128 | 48/375 | chr4 | TogoVar | |||
ADH4_chr4_99118658_99149297 | 99124464 | A | C | missense_variant others(1): Show |
MODERATE | HG02071.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0081 | 1 | 336 | 0.0030 | 0 | c.112 others(4): Show |
p.Val others(6): Show |
ADH4 | ENSG00000198099.10 | transcript | ENST00000265512.12 | protein_coding | 9/9 | 1196/2002 | 1121/1143 | 374/380 | chr4 | TogoVar | |||
ADH4_chr4_99118658_99149297 | 99124465 | C | T | missense_variant others(1): Show |
MODERATE | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(300): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0007a0003c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(79): Show |
303 | 336 | 0.9018 | 0 | c.112 others(4): Show |
p.Val others(6): Show |
ADH4 | ENSG00000198099.10 | transcript | ENST00000265512.12 | protein_coding | 9/9 | 1195/2002 | 1120/1143 | 374/380 | chr4 | TogoVar | |||
ADH4_chr4_99118658_99149297 | 99126690 | T | C | missense_variant | MODERATE | HG00733.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0082 | 1 | 336 | 0.0030 | 0 | c.102 others(4): Show |
p.Tyr others(6): Show |
ADH4 | ENSG00000198099.10 | transcript | ENST00000265512.12 | protein_coding | 8/9 | 1097/2002 | 1022/1143 | 341/380 | chr4 | TogoVar |