view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TYMS_chr18_652653_678578 | 666915 | TGATGGAG others(35): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0391 | 1 | 482 | 0.0021 | -42 | c.455 others(59): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 666933 | TGATGGAG others(35): Show |
T | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0367 | 1 | 482 | 0.0021 | -42 | c.455 others(59): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 666999 | AGATGGTG others(35): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0335 | 1 | 482 | 0.0021 | -42 | c.455 others(59): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667023 | AGATGGTG others(35): Show |
A | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0428 | 1 | 482 | 0.0021 | -42 | c.455 others(59): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34471198 | GTTTCTGG others(35): Show |
G | 3_prime_UTR_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0175 | 1 | 320 | 0.0031 | -42 | c.*19 others(53): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 17/17 | 1983 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
UBAP2_chr9_33916693_34053887 | 33939813 | GGGAGGAG others(35): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(81): Show |
a0001a0005a0007others(4): Show | a0001c0002a0001c0007a0005c0006others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0007t0001others(6): Show | a0001c0002t0001g0044a0001c0002t0001g0130a0001c0002t0001g0131others(81): Show | 84 | 356 | 0.2360 | -42 | c.192 others(61): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 16/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33939816 | AGGAGGAA others(35): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG02896.hp1 others(4): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0080a0002c0001t0002g0087a0002c0001t0002g0099others(4): Show | 7 | 356 | 0.0197 | -42 | c.192 others(61): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 16/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34016245 | AGAGGAGG others(35): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(194): Show |
a0001a0003a0004others(11): Show | a0001c0002a0001c0003a0001c0007others(15): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(21): Show | a0001c0002t0001g0044a0001c0002t0001g0129a0001c0002t0001g0130others(194): Show | 197 | 356 | 0.5534 | -42 | c.99+ others(55): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 2/28 | chr9 | TogoVar | |||||||
UBE4A_chr11_118354600_118404211 | 118355588 | CATATATA others(35): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01358.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0071others(2): Show | 5 | 320 | 0.0156 | -42 | c.-41 others(53): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 4011 | chr11 | TogoVar | |||||||
UBL3_chr13_29759371_29855617 | 29835075 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0347 | 1 | 392 | 0.0026 | -42 | c.27+ others(59): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
UBL3_chr13_29759371_29855617 | 29835089 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG02738.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0018others(1): Show | a0001c0001t0002g0320a0001c0001t0009g0015a0001c0001t0018g0374others(2): Show | 5 | 392 | 0.0128 | -42 | c.27+ others(59): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
UCHL3_chr13_75544791_75611020 | 75561796 | TGTATACG others(35): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(144): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(133): Show | 147 | 326 | 0.4509 | -42 | c.183 others(57): Show |
UCHL3 | ENSG00000118939.19 | transcript | ENST00000377595.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63951657 | AGCACAGG others(35): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0333 | 3 | 356 | 0.0084 | -42 | c.113 others(59): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63955866 | AATCCTAA others(35): Show |
A | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 | 1 | 356 | 0.0028 | -42 | c.113 others(57): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63960468 | GGGGCTGG others(35): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0262a0001c0001t0001g0264a0001c0001t0001g0265others(20): Show | 23 | 356 | 0.0646 | -42 | c.-41 others(53): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 4053 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63960740 | GGGACCAG others(35): Show |
G | upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 356 | 0.0028 | -42 | c.-44 others(53): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 4325 | chr20 | TogoVar | |||||||
UHRF2_chr9_6408199_6512054 | 6488251 | TAAAAAAA others(35): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 318 | 0.0031 | -42 | c.149 others(61): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917081 | CTCGGAGG others(35): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02004.hp2 HG02293.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001a0001c0005t0002 | a0001c0001t0001g0199a0001c0001t0001g0324a0001c0005t0001g0136others(10): Show | 13 | 344 | 0.0378 | -42 | c.218 others(58): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK2_chr17_19765830_19872936 | 19817964 | TAGCACTA others(35): Show |
T | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 288 | 0.0035 | -42 | c.925 others(59): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 12/26 | chr17 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41255614 | TAACTAGA others(35): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01071.hp2 others(10): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0003a0006c0005others(3): Show | a0001c0001t0001a0002c0003t0001a0006c0005t0001others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0035a0001c0001t0001g0036others(10): Show | 13 | 72 | 0.1806 | -42 | c.367 others(61): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41891060 | AGGGGGGA others(35): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02818.hp2 others(2): Show |
a0003a0008 | a0003c0002a0008c0011 | a0003c0002t0002a0008c0011t0002 | a0003c0002t0002g0007a0003c0002t0002g0008a0003c0002t0002g0009others(2): Show | 5 | 72 | 0.0694 | -42 | c.157 others(61): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 16/36 | chr3 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54172703 | GATATATA others(35): Show |
G | intron_variant | MODIFIER | HG02132.hp1 HG02155.hp1 HG02486.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0012others(2): Show | a0001c0001t0041a0001c0003t0003a0001c0012t0017others(2): Show | a0001c0001t0041g0118a0001c0003t0003g0065a0001c0012t0017g0109others(2): Show | 5 | 158 | 0.0317 | -42 | c.307 others(63): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54319721 | GAAATGTC others(35): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01169.hp1 HG01255.hp2 others(20): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0002g0102others(20): Show | 23 | 158 | 0.1456 | -42 | c.426 others(61): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 13/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35789137 | CTATATAT others(35): Show |
C | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0043 | 1 | 64 | 0.0156 | -42 | c.265 others(61): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209955710 | TATATATA others(35): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02922.hp2 HG02965.hp1 others(2): Show |
a0001a0011a0012 | a0001c0022a0001c0026a0001c0029others(2): Show | a0001c0022t0018a0001c0026t0006a0001c0029t0001others(2): Show | a0001c0022t0018g0181a0001c0026t0006g0034a0001c0029t0001g0045others(2): Show | 5 | 188 | 0.0266 | -42 | c.745 others(61): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 48/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNCX_chr7_1227872_1242326 | 1240406 | CGGCCAGG others(35): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(78): Show |
a0000a0001a0004 | a0000c0002a0001c0001a0001c0005others(1): Show | a0000c0002t0001a0001c0001t0001a0001c0001t0002others(3): Show | a0000c0002t0001g0004a0001c0001t0001g0002a0001c0001t0001g0003others(19): Show | 81 | 406 | 0.1995 | -42 | c.*34 others(53): Show |
UNCX | ENSG00000164853.9 | transcript | ENST00000316333.9 | protein_coding | 3081 | chr7 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35349513 | TGTGTAAA others(35): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 256 | 0.0039 | -42 | c.465 others(59): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 6/9 | chr20 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27991148 | TGTATATG others(35): Show |
T | upstream_gene_variant | MODIFIER | HG02015.hp2 HG02165.hp1 NA18612.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(1): Show | 6 | 428 | 0.0140 | -42 | c.-25 others(53): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2456 | chr13 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27991166 | GGTGTAGG others(35): Show |
G | upstream_gene_variant | MODIFIER | HG03017.hp1 HG03831.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0107 | 3 | 428 | 0.0070 | -42 | c.-25 others(53): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2474 | chr13 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27991274 | GGTATATG others(35): Show |
G | upstream_gene_variant | MODIFIER | HG03017.hp1 HG03831.hp2 HG04228.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0107 | 4 | 428 | 0.0094 | -42 | c.-26 others(53): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2582 | chr13 | TogoVar | |||||||
URI1_chr19_29937239_30021612 | 29985119 | CAAAAAAA others(35): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0085 | 1 | 328 | 0.0031 | -42 | c.153 others(55): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
USP17L29_chr4_9348638_9360230 | 9349314 | ACGTCATC others(35): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 1 | 146 | 0.0069 | -42 | c.-43 others(53): Show |
USP17L29 | ENSG00000231637.3 | transcript | ENST00000511681.1 | protein_coding | 4323 | chr4 | TogoVar | |||||||
USP3_chr15_63499593_63599633 | 63547722 | TAGAGAGA others(35): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0050a0001c0001t0004g0054a0001c0001t0004g0055 | 3 | 234 | 0.0128 | -42 | c.285 others(59): Show |
USP3 | ENSG00000140455.17 | transcript | ENST00000380324.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
USP40_chr2_233470526_233571782 | 233567408 | ATAACCTT others(35): Show |
A | upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0307 | 1 | 324 | 0.0031 | -42 | c.-78 others(51): Show |
USP40 | ENSG00000085982.16 | transcript | ENST00000678225.2 | protein_coding | 627 | chr2 | TogoVar | |||||||
USP43_chr17_9640517_9734687 | 9681097 | CATATACT others(35): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03225.hp2 |
a0001a0003 | a0001c0001a0003c0022 | a0001c0001t0008a0003c0022t0001 | a0001c0001t0008g0010a0003c0022t0001g0307 | 2 | 330 | 0.0061 | -42 | c.110 others(59): Show |
USP43 | ENSG00000154914.17 | transcript | ENST00000285199.12 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VAV1_chr19_6767708_6862361 | 6832479 | CTCCTCCT others(35): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 306 | 0.0033 | -42 | c.150 others(59): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VAV1_chr19_6767708_6862361 | 6832576 | TCCTCCTC others(35): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0055a0001c0001t0001g0063others(4): Show | 7 | 306 | 0.0229 | -42 | c.150 others(59): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VDR_chr12_47836537_47909994 | 47859881 | CCTTCCTT others(35): Show |
C | intron_variant | MODIFIER | HG01993.hp2 NA18982.hp1 NA18986.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0005a0001c0001t0018a0001c0006t0026others(1): Show | a0001c0001t0005g0112a0001c0001t0018g0135a0001c0006t0026g0123others(1): Show | 4 | 358 | 0.0112 | -42 | c.278 others(59): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
VDR_chr12_47836537_47909994 | 47859890 | CTTCCTTC others(35): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG02965.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0025a0002c0002t0004g0200 | 2 | 358 | 0.0056 | -42 | c.278 others(59): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
VDR_chr12_47836537_47909994 | 47859894 | CTTCCTTC others(35): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0004 | a0002c0004t0017 | a0002c0004t0017g0175 | 1 | 358 | 0.0028 | -42 | c.278 others(59): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
VGLL1_chrX_136527215_136561799 | 136559985 | GCATATGG others(35): Show |
G | downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0126 | 1 | 259 | 0.0039 | -42 | c.*34 others(53): Show |
VGLL1 | ENSG00000102243.13 | transcript | ENST00000370634.8 | protein_coding | 3187 | chrX | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11573275 | GAAAGAAA others(35): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01884.hp1 HG02056.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0022others(15): Show | 18 | 388 | 0.0464 | -42 | c.273 others(59): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
VIL1_chr2_218414123_218458295 | 218415937 | CTCTCTCT others(35): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp1 HG03130.hp1 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0137a0001c0001t0002g0145a0001c0001t0002g0146 | 3 | 336 | 0.0089 | -42 | c.-32 others(53): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3185 | chr2 | TogoVar | |||||||
VIL1_chr2_218414123_218458295 | 218415939 | CTCTCTCT others(35): Show |
C | upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 336 | 0.0030 | -42 | c.-32 others(53): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3183 | chr2 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99360148 | TTCTTTCT others(35): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02922.hp1 |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0006 | a0003c0005t0004g0130a0003c0005t0006g0129a0003c0005t0006g0131 | 3 | 134 | 0.0224 | -42 | c.282 others(63): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS41_chr7_38717974_38914191 | 38720520 | ATATATAT others(35): Show |
A | downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0086 | 1 | 278 | 0.0036 | -42 | c.*56 others(53): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2453 | chr7 | TogoVar | |||||||
VWA3A_chr16_22087541_22161964 | 22115886 | GAAGGAAG others(35): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01243.hp1 others(17): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0252a0001c0001t0001g0255others(17): Show | 20 | 294 | 0.0680 | -42 | c.815 others(57): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 9/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98168559 | GCATACTG others(35): Show |
G | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 240 | 0.0042 | -42 | c.111 others(61): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98248835 | CTTTCTTT others(35): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01515.hp1 HG04228.hp2 |
a0010a0014 | a0010c0013a0014c0030 | a0010c0013t0002a0014c0030t0002 | a0010c0013t0002g0104a0010c0013t0002g0141a0014c0030t0002g0120 | 3 | 240 | 0.0125 | -42 | c.267 others(61): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41758369 | CATATATA others(35): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0163 | 2 | 250 | 0.0080 | -42 | c.242 others(61): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 21/44 | chr13 | TogoVar |