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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VSIG4_chrX_66016738_66045080 | 66036785 | TATATA | T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0157 |
2 | 215 | 0.0093 | -5 | c.56- others(20): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66036985 | CATATA | C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01168.hp1 others(41): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0033 others(36): Show |
44 | 209 | 0.2105 | -5 | c.55+ others(20): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037043 | TATATC | T | intron_variant | MODIFIER | HG01192.hp1 HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0066 |
3 | 216 | 0.0139 | -5 | c.55+ others(20): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037165 | AATAAT | A | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0156 a0001c0001t0001g0157 |
4 | 214 | 0.0187 | -5 | c.55+ others(20): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037267 | AATAAT | A | intron_variant | MODIFIER | HG01192.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0146 |
2 | 215 | 0.0093 | -5 | c.55+ others(20): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037330 | AATAAT | A | intron_variant | MODIFIER | NA18971.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 2 | 213 | 0.0094 | -5 | c.55+ others(20): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037538 | ATATAT | A | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01081.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0001 | a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0003g0116 others(1): Show |
4 | 216 | 0.0185 | -5 | c.55+ others(20): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSNL1_chr2_17535696_17662018 | 17656598 | TAACAG | T | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01070.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0021others(7): Show | a0001c0001t0007g0006 a0001c0001t0007g0196 a0001c0001t0007g0198 others(24): Show |
28 | 230 | 0.1217 | -5 | c.*12 others(16): Show |
VSNL1 | ENSG00000163032.12 | transcript | ENST00000295156.9 | protein_coding | 4/4 | 1213 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
VSTM1_chr19_54035825_54068897 | 54060014 | ATTAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0005 | a0001c0001t0001g0021 a0001c0001t0001g0061 a0001c0001t0001g0191 others(7): Show |
15 | 440 | 0.0341 | -5 | c.35- others(20): Show |
VSTM1 | ENSG00000189068.11 | transcript | ENST00000338372.7 | protein_coding | 1/8 | chr19 | TogoVar | |||||||
VSTM2A_chr7_54537375_54576067 | 54548879 | ATTTCT | A | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013 | a0001c0001t0008g0053 a0001c0001t0013g0052 a0001c0001t0013g0173 |
5 | 380 | 0.0132 | -5 | c.298 others(20): Show |
VSTM2A | ENSG00000170419.11 | transcript | ENST00000402613.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VSTM5_chr11_93813232_93855618 | 93834598 | ACATGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(340): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 others(256): Show |
343 | 358 | 0.9581 | -5 | c.92- others(22): Show |
VSTM5 | ENSG00000214376.6 | transcript | ENST00000409977.2 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
VSTM5_chr11_93813232_93855618 | 93850670 | CGGGGG | C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG02015.hp1 HG02129.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0079 others(28): Show |
35 | 67 | 0.5224 | -5 | c.-17 others(14): Show |
VSTM5 | ENSG00000214376.6 | transcript | ENST00000409977.2 | protein_coding | 53 | chr11 | TogoVar | |||||||
VSX1_chr20_25070463_25087141 | 25082347 | GCCCAC | G | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG02109.hp1 others(33): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0008a0002c0003t0002others(1): Show | a0001c0002t0002g0005 a0001c0002t0002g0017 a0001c0002t0002g0033 others(5): Show |
36 | 308 | 0.1169 | -5 | c.-25 others(14): Show |
VSX1 | ENSG00000100987.15 | transcript | ENST00000376709.9 | protein_coding | 207 | chr20 | TogoVar | |||||||
VSX2_chr14_74234449_74267738 | 74243717 | GAGAAT | G | intron_variant | MODIFIER | HG02818.hp2 HG02965.hp1 HG06807.hp1 |
a0003 | a0003c0005a0003c0012 | a0003c0005t0007a0003c0012t0007 | a0003c0005t0007g0055 a0003c0005t0007g0056 a0003c0012t0007g0057 |
3 | 420 | 0.0071 | -5 | c.456 others(22): Show |
VSX2 | ENSG00000119614.3 | transcript | ENST00000261980.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VSX2_chr14_74234449_74267738 | 74258564 | CGAGAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG02074.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0022 others(5): Show |
16 | 420 | 0.0381 | -5 | c.580 others(22): Show |
VSX2 | ENSG00000119614.3 | transcript | ENST00000261980.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VTA1_chr6_142142263_142229685 | 142220744 | TTAAAA | T | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02055.hp1 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0136 a0002c0002t0013g0137 a0002c0002t0013g0138 |
3 | 332 | 0.0090 | -5 | c.*21 others(16): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 8/8 | 2108 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
VTI1A_chr10_112442215_112823744 | 112458145 | CTTTGT | C | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 others(3): Show |
6 | 166 | 0.0361 | -5 | c.95- others(20): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112484351 | ATCTAT | A | intron_variant | MODIFIER | HG02897.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0147 a0001c0001t0017g0098 |
2 | 166 | 0.0120 | -5 | c.264 others(24): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112556039 | TGAAAA | T | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0001g0078 a0001c0001t0001g0087 others(1): Show |
4 | 166 | 0.0241 | -5 | c.427 others(24): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112620217 | TACTGA | T | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0075 others(4): Show |
7 | 166 | 0.0422 | -5 | c.428 others(24): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | chr10 | TogoVar | |||||||
VTI1A_chr10_112442215_112823744 | 112631213 | ATAGAG | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG02523.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0082 a0001c0001t0002g0048 a0001c0001t0002g0067 others(4): Show |
7 | 166 | 0.0422 | -5 | c.428 others(24): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112709682 | CTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG01891.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0088 a0001c0001t0001g0111 others(7): Show |
10 | 67 | 0.1493 | -5 | c.560 others(24): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112733725 | ATTATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0042 others(28): Show |
31 | 143 | 0.2168 | -5 | c.560 others(24): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112765192 | ATGTTT | A | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG02280.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(17): Show |
20 | 145 | 0.1379 | -5 | c.561 others(24): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1B_chr14_67642085_67679632 | 67642793 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01884.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0014 | a0001c0001t0006g0056 a0001c0001t0007g0020 a0001c0001t0007g0108 others(2): Show |
7 | 39 | 0.1795 | -5 | c.*85 others(16): Show |
VTI1B | ENSG00000100568.11 | transcript | ENST00000554659.6 | protein_coding | 4291 | chr14 | TogoVar | |||||||
VTI1B_chr14_67642085_67679632 | 67648502 | CAAGAT | C | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02280.hp2 others(16): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0007a0001c0001t0023a0001c0007t0007 | a0001c0001t0007g0015 a0001c0001t0007g0020 a0001c0001t0007g0021 others(8): Show |
19 | 444 | 0.0428 | -5 | c.*28 others(16): Show |
VTI1B | ENSG00000100568.11 | transcript | ENST00000554659.6 | protein_coding | 6/6 | 2878 | chr14 | TogoVar | ||||||
VTI1B_chr14_67642085_67679632 | 67672432 | TTTTTC | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(76): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0022 | a0001c0002t0004g0001 a0001c0002t0004g0008 a0001c0002t0004g0025 others(37): Show |
79 | 444 | 0.1779 | -5 | c.115 others(22): Show |
VTI1B | ENSG00000100568.11 | transcript | ENST00000554659.6 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
VTN_chr17_28362284_28375307 | 28374281 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(73): Show |
a0002a0003a0008 | a0002c0003a0002c0007a0003c0005others(2): Show | a0002c0003t0001a0002c0007t0001a0003c0005t0001others(2): Show | a0002c0003t0001g0002 a0002c0003t0001g0011 a0002c0007t0001g0012 others(3): Show |
76 | 143 | 0.5315 | -5 | c.-40 others(16): Show |
VTN | ENSG00000109072.14 | transcript | ENST00000226218.9 | protein_coding | 3975 | chr17 | TogoVar | |||||||
VTN_chr17_28362284_28375307 | 28374970 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG02027.hp1 HG02027.hp2 others(13): Show |
a0002a0003 | a0002c0002a0002c0003a0003c0010 | a0002c0002t0002a0002c0003t0001a0003c0010t0001 | a0002c0002t0002g0009 a0002c0003t0001g0002 a0003c0010t0001g0013 |
16 | 107 | 0.1495 | -5 | c.-47 others(16): Show |
VTN | ENSG00000109072.14 | transcript | ENST00000226218.9 | protein_coding | 4664 | chr17 | TogoVar | |||||||
VWA2_chr10_114234254_114299489 | 114256909 | CAAAAA | C | intron_variant | MODIFIER | HG01099.hp2 HG02451.hp2 HG02809.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0017a0003c0003t0018a0003c0003t0025others(2): Show | a0003c0003t0017g0014 a0003c0003t0018g0234 a0003c0003t0018g0235 others(3): Show |
6 | 180 | 0.0333 | -5 | c.261 others(22): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114265241 | TTTATG | T | intron_variant | MODIFIER | HG01934.hp1 HG01975.hp1 HG01981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0176 others(1): Show |
4 | 244 | 0.0164 | -5 | c.371 others(22): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA3A_chr16_22087541_22161964 | 22125406 | GTGTTT | G | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG01106.hp1 others(96): Show |
a0001a0002a0007others(7): Show | a0001c0001a0002c0002a0007c0007others(7): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(95): Show |
99 | 284 | 0.3486 | -5 | c.153 others(22): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 16/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3A_chr16_22087541_22161964 | 22126948 | AAGATC | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(188): Show |
a0001a0002a0005others(20): Show | a0001c0001a0001c0033a0002c0002others(22): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(186): Show |
191 | 292 | 0.6541 | -5 | c.165 others(22): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 17/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98082705 | GTTTTT | G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02572.hp1 others(6): Show |
a0003a0005 | a0003c0003a0003c0017a0005c0007 | a0003c0003t0003a0003c0003t0005a0003c0017t0005others(2): Show | a0003c0003t0003g0051 a0003c0003t0003g0054 a0003c0003t0003g0056 others(6): Show |
9 | 167 | 0.0539 | -5 | c.-46 others(16): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 4461 | chr2 | TogoVar | |||||||
VWA3B_chr2_98082167_98318299 | 98298373 | GATTCT | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(34): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0004t0003others(12): Show | a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0001t0001g0107 others(34): Show |
37 | 96 | 0.3854 | -5 | c.328 others(22): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20332479 | CAAAAT | C | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG01070.hp2 others(35): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0022a0001c0023others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0077 a0001c0001t0003g0253 a0001c0001t0004g0009 others(35): Show |
38 | 79 | 0.4810 | -5 | c.157 others(22): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20339563 | CAAACA | C | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02717.hp2 others(7): Show |
a0006a0030 | a0006c0011a0006c0012a0030c0039 | a0006c0011t0014a0006c0011t0017a0006c0012t0017others(2): Show | a0006c0011t0014g0035 a0006c0011t0014g0036 a0006c0011t0014g0057 others(7): Show |
10 | 326 | 0.0307 | -5 | c.213 others(24): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20361094 | TTTGTG | T | downstream_gene_variant | MODIFIER | HG01255.hp2 NA18950.hp1 NA18950.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0002c0002t0001a0003c0003t0007 | a0001c0001t0003g0303 a0002c0002t0001g0267 a0003c0003t0007g0179 |
3 | 323 | 0.0093 | -5 | c.*68 others(16): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 1577 | chr1 | TogoVar | |||||||
VWA5B2_chr3_184224585_184247329 | 184224723 | GAGTGC | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp2 others(27): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0002 a0002c0003t0002g0045 a0002c0003t0002g0046 others(1): Show |
30 | 340 | 0.0882 | -5 | c.-51 others(16): Show |
VWA5B2 | ENSG00000145198.15 | transcript | ENST00000691901.1 | protein_coding | 4861 | chr3 | TogoVar | |||||||
VWA5B2_chr3_184224585_184247329 | 184226235 | AAAAAG | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG01071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0073 |
8 | 315 | 0.0254 | -5 | c.-36 others(16): Show |
VWA5B2 | ENSG00000145198.15 | transcript | ENST00000691901.1 | protein_coding | 3349 | chr3 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41582728 | TATAAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(78): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0018others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(15): Show | a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0027 others(78): Show |
81 | 248 | 0.3266 | -5 | c.527 others(24): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 42/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41592474 | AAAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(55): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0002c0013others(6): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(9): Show | a0001c0001t0001g0069 a0001c0001t0001g0102 a0001c0001t0001g0105 others(55): Show |
58 | 247 | 0.2348 | -5 | c.498 others(24): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 40/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41744844 | TATTTA | T | intron_variant | MODIFIER | HG00140.hp2 HG02523.hp1 HG03704.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0060 others(2): Show |
5 | 248 | 0.0202 | -5 | c.242 others(26): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 21/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41770758 | TTTTTA | T | intron_variant | MODIFIER | HG02486.hp2 HG02895.hp1 HG03579.hp1 |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0005 | a0005c0005t0001g0002 a0005c0005t0005g0001 a0005c0005t0005g0004 |
3 | 248 | 0.0121 | -5 | c.234 others(24): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 20/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41792790 | TATTAG | T | intron_variant | MODIFIER | HG00099.hp2 HG02071.hp1 HG02486.hp1 others(1): Show |
a0001a0010a0014 | a0001c0001a0010c0012a0014c0017 | a0001c0001t0001a0010c0012t0001a0014c0017t0013 | a0001c0001t0001g0102 a0010c0012t0001g0158 a0010c0012t0001g0159 others(1): Show |
4 | 248 | 0.0161 | -5 | c.206 others(24): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 17/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41801405 | CCACTA | C | intron_variant | MODIFIER | HG02486.hp2 HG02895.hp1 HG03098.hp1 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0002a0005c0005t0005 | a0005c0005t0001g0002 a0005c0005t0002g0003 a0005c0005t0005g0001 others(1): Show |
4 | 248 | 0.0161 | -5 | c.206 others(24): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 17/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41841821 | ATATAT | A | intron_variant | MODIFIER | HG00558.hp2 HG01358.hp2 HG02074.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0096 others(1): Show |
4 | 248 | 0.0161 | -5 | c.142 others(24): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 12/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41881371 | CCGGGG | C | intron_variant | MODIFIER | HG02055.hp1 HG02896.hp1 HG02897.hp1 |
a0008a0011 | a0008c0008a0011c0011 | a0008c0008t0002a0011c0011t0002 | a0008c0008t0002g0190 a0011c0011t0002g0187 a0011c0011t0002g0188 |
3 | 231 | 0.0130 | -5 | c.108 others(24): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 9/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41901890 | ATATAT | A | intron_variant | MODIFIER | HG01167.hp1 HG01496.hp2 HG02523.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0001g0106 a0001c0001t0002g0005 others(3): Show |
6 | 203 | 0.0296 | -5 | c.483 others(22): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 4/44 | chr13 | TogoVar | |||||||
VWC2L_chr2_214406054_214583976 | 214426171 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG00738.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0078 a0001c0001t0001g0079 others(56): Show |
59 | 175 | 0.3371 | -5 | c.391 others(24): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |