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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UPF3A_chr13_114276601_114310817 | 114295331 | AGCTCTGG others(25): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03139.hp2 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 3 | 306 | 0.0098 | -32 | c.847 others(49): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UPF3A_chr13_114276601_114310817 | 114295340 | CTGCTCCC others(25): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00673.hp1 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0058 others(33): Show |
39 | 387 | 0.1008 | -32 | c.847 others(49): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UPK3BL1_chr7_102632025_102647791 | 102639965 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | NA18947.hp1 | a0004 | a0004c0005 | a0004c0005t0012 | a0004c0005t0012g0099 | 1 | 140 | 0.0071 | -32 | c.485 others(47): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102540874 | AAAGAAGA others(25): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 98 | 0.0204 | -32 | c.485 others(47): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
URI1_chr19_29937239_30021612 | 29944140 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp1 others(68): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(4): Show | a0001c0001t0001g0078 a0002c0002t0002g0258 a0002c0002t0002g0259 others(68): Show |
71 | 108 | 0.6574 | -32 | c.117 others(49): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
URI1_chr19_29937239_30021612 | 29985119 | CAAAAAAA others(25): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03130.hp1 HG03195.hp1 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0007a0003c0003t0001a0003c0003t0006 | a0002c0002t0007g0256 a0003c0003t0001g0038 a0003c0003t0006g0006 others(1): Show |
4 | 5 | 0.8000 | -32 | c.153 others(45): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UROC1_chr3_126476166_126522773 | 126515834 | ACCCACCA others(25): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02976.hp2 HG03098.hp2 others(5): Show |
a0001a0004 | a0001c0003a0001c0004a0004c0007 | a0001c0003t0001a0001c0004t0003a0001c0004t0005others(2): Show | a0001c0003t0001g0062 a0001c0004t0003g0055 a0001c0004t0005g0060 others(5): Show |
8 | 378 | 0.0212 | -32 | c.126 others(49): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 1/19 | chr3 | TogoVar | |||||||
UROC1_chr3_126476166_126522773 | 126516255 | CCCCTCAT others(25): Show |
C | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 377 | 0.0027 | -32 | c.126 others(49): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 1/19 | chr3 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216030475 | TATGATAT others(25): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03225.hp1 NA19043.hp2 |
a0027a0048a0063 | a0027c0055a0048c0015a0063c0052 | a0027c0055t0006a0048c0015t0010a0063c0052t0003 | a0027c0055t0006g0062 a0048c0015t0010g0008 a0063c0052t0003g0072 |
3 | 28 | 0.1071 | -32 | c.632 others(53): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 32/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216135152 | TCTCTCTC others(25): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0040 | a0040c0009 | a0040c0009t0008 | a0040c0009t0008g0001 | 1 | 72 | 0.0139 | -32 | c.462 others(53): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216377779 | AAAAGAAA others(25): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0053 | a0053c0028 | a0053c0028t0003 | a0053c0028t0003g0041 | 1 | 48 | 0.0208 | -32 | c.652 others(51): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 3/71 | chr1 | TogoVar | |||||||
USP10_chr16_84695000_84784922 | 84697677 | ATATATAT others(25): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01074.hp1 others(23): Show |
a0001a0002a0003 | a0001c0002a0001c0006a0001c0007others(3): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(4): Show | a0001c0002t0001g0386 a0001c0006t0001g0005 a0001c0006t0001g0389 others(22): Show |
26 | 425 | 0.0612 | -32 | c.-24 others(43): Show |
USP10 | ENSG00000103194.16 | transcript | ENST00000219473.12 | protein_coding | 2322 | chr16 | TogoVar | |||||||
USP24_chr1_55061359_55220364 | 55178676 | AAAATAAA others(25): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01255.hp1 HG01884.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0012 | a0001c0001t0001a0002c0002t0001a0002c0012t0001 | a0001c0001t0001g0184 a0002c0002t0001g0019 a0002c0002t0001g0022 others(25): Show |
28 | 54 | 0.5185 | -32 | c.325 others(47): Show |
USP24 | ENSG00000162402.15 | transcript | ENST00000294383.7 | protein_coding | 1/67 | chr1 | TogoVar | |||||||
USP34_chr2_61182463_61476087 | 61239300 | TCACACAC others(25): Show |
T | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 97 | 0.0103 | -32 | c.677 others(51): Show |
USP34 | ENSG00000115464.15 | transcript | ENST00000398571.7 | protein_coding | 53/79 | chr2 | TogoVar | |||||||
USP35_chr11_78183919_78220232 | 78214740 | TGATGGCC others(25): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02976.hp1 HG03041.hp2 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0020a0004c0004t0030a0004c0004t0070 | a0004c0004t0020g0222 a0004c0004t0020g0236 a0004c0004t0020g0238 others(3): Show |
6 | 414 | 0.0145 | -32 | c.*92 others(41): Show |
USP35 | ENSG00000118369.13 | transcript | ENST00000529308.6 | protein_coding | 11/11 | 929 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
USP44_chr12_95511560_95556476 | 95512710 | CAAAAAGA others(25): Show |
C | downstream_gene_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 | 1 | 400 | 0.0025 | -32 | c.*54 others(43): Show |
USP44 | ENSG00000136014.12 | transcript | ENST00000258499.8 | protein_coding | 3849 | chr12 | TogoVar | |||||||
USP44_chr12_95511560_95556476 | 95514826 | ATTCTTGG others(25): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0128 | 1 | 400 | 0.0025 | -32 | c.*32 others(43): Show |
USP44 | ENSG00000136014.12 | transcript | ENST00000258499.8 | protein_coding | 1733 | chr12 | TogoVar | |||||||
USP6NL_chr10_11455510_11616650 | 11493782 | TTCCTGCC others(25): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0322 | 1 | 400 | 0.0025 | -32 | c.385 others(47): Show |
USP6NL | ENSG00000148429.15 | transcript | ENST00000609104.6 | protein_coding | 7/14 | chr10 | TogoVar | |||||||
USP6NL_chr10_11455510_11616650 | 11541230 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0100 | 1 | 99 | 0.0101 | -32 | c.5-1 others(47): Show |
USP6NL | ENSG00000148429.15 | transcript | ENST00000609104.6 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
UTF1_chr10_133225217_133236558 | 133227483 | GCGCCATC others(25): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(48): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0007g0001 a0001c0002t0003g0001 others(4): Show |
51 | 391 | 0.1304 | -32 | c.-28 others(43): Show |
UTF1 | ENSG00000171794.4 | transcript | ENST00000304477.3 | protein_coding | 2733 | chr10 | TogoVar | |||||||
UTP20_chr12_101275105_101391618 | 101340937 | CTTTTTTT others(25): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02145.hp1 |
a0001a0014 | a0001c0003a0014c0024 | a0001c0003t0008a0014c0024t0001 | a0001c0003t0008g0070 a0014c0024t0001g0008 |
2 | 8 | 0.2500 | -32 | c.410 others(49): Show |
UTP20 | ENSG00000120800.5 | transcript | ENST00000261637.5 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UTP25_chr1_209822972_209862565 | 209824334 | CTCAACAT others(25): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0008 | 1 | 428 | 0.0023 | -32 | c.-37 others(43): Show |
UTP25 | ENSG00000117597.18 | transcript | ENST00000491415.7 | protein_coding | 3637 | chr1 | TogoVar | |||||||
UVRAG_chr11_75810210_76149232 | 75828754 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp1 others(20): Show |
a0002a0003 | a0002c0002a0002c0003a0003c0006 | a0002c0002t0001a0002c0002t0002a0002c0002t0013others(7): Show | a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0108 others(20): Show |
23 | 126 | 0.1825 | -32 | c.117 others(51): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VAV3_chr1_107566161_107970180 | 107908820 | AACACACA others(25): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02630.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 others(9): Show |
12 | 14 | 0.8571 | -32 | c.205 others(51): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 1/26 | chr1 | TogoVar | |||||||
VAX2_chr2_70895576_70938446 | 70919094 | CGGGAGGC others(25): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(348): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 others(264): Show |
351 | 424 | 0.8278 | -32 | c.248 others(49): Show |
VAX2 | ENSG00000116035.4 | transcript | ENST00000234392.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VDR_chr12_47836537_47909994 | 47859840 | CCCTTCCT others(25): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02523.hp2 NA18940.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0019 | a0001c0001t0004g0139 a0001c0001t0005g0134 a0001c0001t0005g0259 others(1): Show |
4 | 348 | 0.0115 | -32 | c.278 others(49): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
VEGFC_chr4_176678538_176797922 | 176795320 | AACACACA others(25): Show |
A | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 17 | 0.0588 | -32 | c.-30 others(43): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 2399 | chr4 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157272240 | TCTTCCTT others(25): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00738.hp1 others(73): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0005others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0046 others(73): Show |
76 | 100 | 0.7600 | -32 | c.212 others(51): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11573284 | AAAGAAAG others(25): Show |
A | intron_variant | MODIFIER | NA18979.hp2 NA19007.hp1 NA19058.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0002a0002c0003t0001 | a0001c0001t0002g0358 a0001c0002t0002g0238 a0002c0003t0001g0048 |
3 | 386 | 0.0078 | -32 | c.273 others(49): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11573316 | GAAGAAAG others(25): Show |
G | intron_variant | MODIFIER | HG03209.hp1 NA18969.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0002 | a0001c0001t0011g0290 a0001c0002t0002g0237 |
2 | 354 | 0.0056 | -32 | c.273 others(49): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
VIRMA_chr8_94482689_94558469 | 94555870 | CATATATA others(25): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02257.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0236 a0001c0003t0001g0100 a0001c0004t0001g0023 others(7): Show |
12 | 20 | 0.6000 | -32 | c.-24 others(43): Show |
VIRMA | ENSG00000164944.12 | transcript | ENST00000297591.10 | protein_coding | 2402 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99540035 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0005 | a0005c0009 | a0005c0009t0004 | a0005c0009t0004g0120 | 1 | 123 | 0.0081 | -32 | c.474 others(53): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99540037 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 113 | 0.0088 | -32 | c.474 others(53): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99540039 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG03579.hp1 |
a0001a0005 | a0001c0002a0005c0009 | a0001c0002t0001a0005c0009t0006 | a0001c0002t0001g0016 a0005c0009t0006g0119 |
2 | 115 | 0.0174 | -32 | c.474 others(53): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13C_chr15_61847389_62065447 | 62037241 | TATATAAT others(25): Show |
T | intron_variant | MODIFIER | HG02004.hp2 HG02145.hp1 HG02895.hp1 others(3): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0004a0005c0005t0018 | a0002c0002t0001g0048 a0005c0005t0004g0015 a0005c0005t0004g0017 others(3): Show |
6 | 349 | 0.0172 | -32 | c.188 others(49): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 3/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12381922 | TTTTCTTT others(25): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0007 | a0003c0007t0007 | a0003c0007t0007g0152 | 1 | 79 | 0.0127 | -32 | c.111 others(52): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19570834 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(56): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0081 others(56): Show |
59 | 77 | 0.7662 | -32 | c.285 others(49): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19666872 | TTTTCTTT others(25): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01069.hp2 HG01243.hp1 others(10): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0007 a0001c0002t0001g0117 a0001c0002t0001g0132 others(10): Show |
13 | 162 | 0.0802 | -32 | c.222 others(51): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS41_chr7_38717974_38914191 | 38720552 | GTGTGTGT others(25): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG03516.hp2 |
a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0073 a0001c0003t0021g0095 a0001c0003t0021g0100 |
3 | 254 | 0.0118 | -32 | c.*56 others(43): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2421 | chr7 | TogoVar | |||||||
VPS4A_chr16_69306350_69331939 | 69319164 | TCACTGTG others(25): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 HG03486.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0030 a0001c0002t0006g0103 |
3 | 364 | 0.0082 | -32 | c.464 others(47): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 583526 | AGAACTTT others(25): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG02602.hp1 NA18747.hp1 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0010a0001c0005t0021a0001c0005t0046others(3): Show | a0001c0005t0010g0007 a0001c0005t0010g0008 a0001c0005t0021g0006 others(4): Show |
7 | 230 | 0.0304 | -32 | c.131 others(51): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 13/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 662841 | GGAAGGAA others(25): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01168.hp1 HG01978.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0116a0001c0002t0001a0001c0002t0025others(1): Show | a0001c0001t0116g0211 a0001c0002t0001g0045 a0001c0002t0001g0090 others(2): Show |
5 | 225 | 0.0222 | -32 | c.286 others(47): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184998479 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG00323.hp1 | a0005 | a0005c0011 | a0005c0011t0004 | a0005c0011t0004g0259 | 1 | 3 | 0.3333 | -32 | c.383 others(51): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VSNL1_chr2_17535696_17662018 | 17622532 | AAAAGAAA others(25): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG02886.hp2 HG03239.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0040 | a0001c0001t0003g0084 a0001c0001t0011g0092 a0001c0001t0011g0098 others(1): Show |
4 | 78 | 0.0513 | -32 | c.163 others(51): Show |
VSNL1 | ENSG00000163032.12 | transcript | ENST00000295156.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VSTM1_chr19_54035825_54068897 | 54056191 | CTTTCTTT others(25): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(71): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0012others(4): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(8): Show | a0001c0001t0002g0103 a0001c0003t0001g0004 a0001c0003t0001g0005 others(56): Show |
74 | 438 | 0.1690 | -32 | c.355 others(49): Show |
VSTM1 | ENSG00000189068.11 | transcript | ENST00000338372.7 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
VTA1_chr6_142142263_142229685 | 142204643 | ATTTAATC others(25): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(314): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0012 others(274): Show |
317 | 332 | 0.9548 | -32 | c.778 others(47): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
VWA1_chr1_1430690_1447882 | 1433028 | CGCTGCCC others(25): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01081.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0024others(2): Show | a0001c0001t0001g0001 a0001c0001t0006g0008 a0001c0001t0024g0001 others(2): Show |
9 | 278 | 0.0324 | -32 | c.-27 others(43): Show |
VWA1 | ENSG00000179403.12 | transcript | ENST00000476993.2 | protein_coding | 2661 | chr1 | TogoVar | |||||||
VWA1_chr1_1430690_1447882 | 1443673 | CTTTTTTT others(25): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01123.hp2 HG01928.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0018a0001c0001t0043others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0018g0001 others(3): Show |
11 | 13 | 0.8462 | -32 | c.*38 others(43): Show |
VWA1 | ENSG00000179403.12 | transcript | ENST00000476993.2 | protein_coding | 792 | chr1 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41758369 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG02486.hp1 |
a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0158 a0010c0012t0001g0159 |
2 | 127 | 0.0157 | -32 | c.242 others(51): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 21/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41815224 | AAAGTATT others(25): Show |
A | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 248 | 0.0040 | -32 | c.194 others(51): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 16/44 | chr13 | TogoVar |