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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF707_chr8_143679479_143700385 | 143692560 | CATCCCCG others(73): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG03239.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0014 | a0002c0002t0001g0043 a0002c0002t0014g0043 |
2 | 435 | 0.0046 | -80 | c.256 others(95): Show |
ZNF707 | ENSG00000181135.16 | transcript | ENST00000358656.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF707_chr8_143679479_143700385 | 143692600 | GATCCCCG others(73): Show |
G | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 435 | 0.0023 | -80 | c.257 others(95): Show |
ZNF707 | ENSG00000181135.16 | transcript | ENST00000358656.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF772_chr19_57464586_57482566 | 57482458 | TCCCCTCT others(73): Show |
T | upstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 394 | 0.0025 | -80 | c.-52 others(91): Show |
ZNF772 | ENSG00000197128.13 | transcript | ENST00000356584.8 | protein_coding | 4893 | chr19 | TogoVar | |||||||
ZNF835_chr19_56656980_56676757 | 56669497 | AGGGGCCT others(73): Show |
A | intron_variant | MODIFIER | NA18940.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0130 | 1 | 450 | 0.0022 | -80 | c.-48 others(97): Show |
ZNF835 | ENSG00000127903.14 | transcript | ENST00000537055.4 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
ZNF888_chr19_52899415_52928428 | 52919102 | CTCCCTCT others(73): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02257.hp2 HG02615.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0002a0001c0004t0007a0001c0004t0021others(2): Show | a0001c0001t0002g0114 a0001c0004t0007g0115 a0001c0004t0007g0252 others(3): Show |
6 | 426 | 0.0141 | -80 | c.-17 others(97): Show |
ZNF888 | ENSG00000213793.6 | transcript | ENST00000638862.2 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
ZP4_chr1_237877404_237895922 | 237883703 | GCGGGGGA others(73): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 448 | 0.0022 | -80 | c.139 others(97): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
ZXDC_chr3_126432601_126480891 | 126476105 | AGGGCGGG others(73): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(187): Show |
a0001a0005a0006others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0058 a0001c0001t0001g0162 a0001c0001t0001g0188 others(115): Show |
190 | 390 | 0.4872 | -80 | c.-32 others(89): Show |
ZXDC | ENSG00000070476.15 | transcript | ENST00000389709.8 | protein_coding | 215 | chr3 | TogoVar | |||||||
ZXDC_chr3_126432601_126480891 | 126476152 | GGCGCGGG others(73): Show |
G | upstream_gene_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0006 | 1 | 390 | 0.0026 | -80 | c.-36 others(89): Show |
ZXDC | ENSG00000070476.15 | transcript | ENST00000389709.8 | protein_coding | 262 | chr3 | TogoVar | |||||||
ZYG11B_chr1_52721453_52832336 | 52803093 | TATATACA others(73): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0200 | 1 | 352 | 0.0028 | -80 | c.169 others(98): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95196658 | AAGGAAGG others(72): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG02083.hp1 HG02602.hp1 others(10): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0003a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(5): Show | a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 others(10): Show |
13 | 248 | 0.0524 | -79 | c.116 others(98): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70687100 | GCAGAGGG others(72): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00738.hp1 others(28): Show |
a0001a0003a0004others(5): Show | a0001c0002a0001c0004a0001c0007others(16): Show | a0001c0002t0018a0001c0002t0041a0001c0004t0009others(19): Show | a0001c0002t0018g0090 a0001c0002t0018g0095 a0001c0002t0041g0075 others(28): Show |
31 | 354 | 0.0876 | -79 | c.522 others(98): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100276304 | GGTGGAAG others(72): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0106 | 1 | 228 | 0.0044 | -79 | c.789 others(96): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 937066 | TGCCCGGC others(72): Show |
T | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 14 | 0.0714 | -79 | c.83- others(94): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45146050 | CACCTGAT others(72): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(178): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(64): Show | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 others(175): Show |
181 | 350 | 0.5171 | -79 | c.-48 others(98): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1175982 | GGCCTGGC others(72): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02717.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0019a0001c0001t0023a0001c0001t0061others(3): Show | a0001c0001t0019g0038 a0001c0001t0023g0023 a0001c0001t0061g0087 others(3): Show |
6 | 106 | 0.0566 | -79 | c.*71 others(90): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1330 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1176029 | CGAGAGCA others(72): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG03540.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0049a0001c0001t0051a0002c0002t0053 | a0001c0001t0049g0040 a0001c0001t0051g0051 a0002c0002t0053g0106 |
3 | 106 | 0.0283 | -79 | c.*70 others(90): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1283 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1176048 | CGCAGGCA others(72): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01243.hp2 HG02145.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0030a0001c0001t0050a0001c0003t0045others(3): Show | a0001c0001t0030g0034 a0001c0001t0050g0077 a0001c0003t0045g0057 others(3): Show |
6 | 106 | 0.0566 | -79 | c.*70 others(90): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1264 | chr10 | TogoVar | |||||||
ADIPOQ_chr3_186837710_186863463 | 186863384 | CCCTCTCC others(72): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0006 | a0001c0006t0062 | a0001c0006t0062g0223 | 1 | 484 | 0.0021 | -79 | c.*86 others(90): Show |
ADIPOQ | ENSG00000181092.10 | transcript | ENST00000320741.7 | protein_coding | 4922 | chr3 | TogoVar | |||||||
AGBL1_chr15_86074871_86921156 | 86633786 | ATATATAT others(72): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02698.hp2 HG02738.hp2 |
a0001 | a0001c0006a0001c0019a0001c0032 | a0001c0006t0025a0001c0019t0001a0001c0032t0009 | a0001c0006t0025g0035 a0001c0019t0001g0057 a0001c0032t0009g0108 |
3 | 132 | 0.0227 | -79 | c.299 others(100): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1587650 | CCCCTCCC others(72): Show |
C | upstream_gene_variant | MODIFIER | HG02976.hp2 | a0013 | a0013c0013 | a0013c0013t0003 | a0013c0013t0003g0123 | 1 | 151 | 0.0066 | -79 | c.-41 others(90): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3953 | chrX | TogoVar | |||||||
AKIP1_chr11_8906189_8925079 | 8910632 | AGTGTGTG others(72): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00673.hp1 others(35): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0023 others(13): Show |
38 | 420 | 0.0905 | -79 | c.-59 others(88): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 556 | chr11 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126589966 | ATCTGGAA others(72): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG01884.hp2 others(18): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006a0001c0003t0007others(9): Show | a0001c0003t0001g0002 a0001c0003t0001g0023 a0001c0003t0001g0028 others(18): Show |
21 | 380 | 0.0553 | -79 | c.312 others(96): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ALG10_chr12_34017496_34033302 | 34021816 | TATATGTA others(72): Show |
T | upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | -79 | c.-78 others(88): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 679 | chr12 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107886 | AAAGAAAG others(72): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp1 HG01169.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0002g0140 a0001c0001t0004g0409 a0001c0002t0001g0040 others(6): Show |
10 | 422 | 0.0237 | -79 | c.168 others(96): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38571028 | TTGAATAT others(72): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02165.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0005 | a0001c0001t0003g0186 a0002c0004t0005g0243 |
2 | 288 | 0.0069 | -79 | c.70- others(96): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMY2A_chr1_103612427_103630780 | 103621118 | ATTAAACT others(72): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(308): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(80): Show |
311 | 312 | 0.9968 | -79 | c.878 others(94): Show |
AMY2A | ENSG00000243480.8 | transcript | ENST00000414303.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
ANKDD1A_chr15_64906902_64963691 | 64954789 | CTCCTTAG others(72): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0245 a0001c0002t0002g0246 |
2 | 338 | 0.0059 | -79 | c.148 others(98): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60367578 | CCGCCCGG others(72): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | 334 | 0.0060 | -79 | c.149 others(96): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128442 | GCACTGCA others(72): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00673.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0016 | a0001c0001t0001a0001c0003t0002a0001c0016t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0085 others(12): Show |
18 | 406 | 0.0443 | -79 | c.806 others(94): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128514 | AGCTCCGA others(72): Show |
A | intron_variant | MODIFIER | HG03669.hp2 NA18971.hp2 NA19064.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0142 a0001c0002t0001g0004 |
3 | 406 | 0.0074 | -79 | c.806 others(94): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
ARHGAP21_chr10_24578614_24728887 | 24656958 | CTGCCCGG others(72): Show |
C | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 352 | 0.0028 | -79 | c.268 others(97): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1919937 | GTGATGGA others(72): Show |
G | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 | 1 | 363 | 0.0028 | -79 | c.214 others(98): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARID4A_chr14_58293555_58378876 | 58328126 | TAAAATAT others(72): Show |
T | intron_variant | MODIFIER | NA18967.hp2 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0266 | 1 | 294 | 0.0034 | -79 | c.583 others(93): Show |
ARID4A | ENSG00000032219.19 | transcript | ENST00000355431.8 | protein_coding | 8/23 | chr14 | TogoVar | |||||||
ARID5B_chr10_61896699_62101944 | 61915395 | TGATTTTG others(72): Show |
T | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0108 | 1 | 242 | 0.0041 | -79 | c.276 others(98): Show |
ARID5B | ENSG00000150347.17 | transcript | ENST00000279873.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972401 | CAGAGGGG others(72): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0166 | 1 | 280 | 0.0036 | -79 | c.-14 others(96): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
ARL13A_chrX_100964708_100995831 | 100972579 | CAGAGGGG others(72): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0166 | 1 | 280 | 0.0036 | -79 | c.-14 others(96): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
ARL17A_chr17_46547756_46584691 | 46558730 | GCCTTGAA others(72): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01978.hp2 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0025 a0001c0001t0006g0027 a0001c0001t0006g0029 |
3 | 146 | 0.0206 | -79 | c.260 others(96): Show |
ARL17A | ENSG00000185829.19 | transcript | ENST00000336125.6 | protein_coding | 3/3 | chr17 | TogoVar | |||||||
ARMT1_chr6_151447466_151475101 | 151450407 | GGTCAGCC others(72): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 others(13): Show |
48 | 418 | 0.1148 | -79 | c.-21 others(90): Show |
ARMT1 | ENSG00000146476.11 | transcript | ENST00000367294.4 | protein_coding | 2058 | chr6 | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5648328 | CGGGTAAA others(72): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG00735.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0379 a0001c0001t0002g0020 a0001c0001t0002g0024 others(15): Show |
20 | 446 | 0.0448 | -79 | c.517 others(94): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236239435 | TGAATCAG others(72): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(81): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0017others(11): Show | a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0069 others(78): Show |
84 | 250 | 0.3360 | -79 | c.329 others(96): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1404620 | CGAATGGA others(72): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0018 | a0018c0035 | a0018c0035t0001 | a0018c0035t0001g0147 | 1 | 185 | 0.0054 | -79 | c.164 others(98): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112761566 | GAAGCACC others(72): Show |
G | intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0186 | 1 | 254 | 0.0039 | -79 | c.40- others(96): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112767235 | TGTTGGGG others(72): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG02738.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0055a0001c0004t0006 | a0001c0001t0055g0161 a0001c0004t0006g0109 |
2 | 254 | 0.0079 | -79 | c.40- others(96): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78054621 | GCTCACAA others(72): Show |
G | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0066 | 1 | 233 | 0.0043 | -79 | c.*80 others(90): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4227 | chrX | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32579509 | ATATTATA others(72): Show |
A | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201 | 1 | 330 | 0.0030 | -79 | c.168 others(96): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82972643 | CCACCACA others(72): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG02922.hp2 others(2): Show |
a0001a0004 | a0001c0006a0001c0011a0004c0017others(1): Show | a0001c0006t0018a0001c0011t0011a0004c0017t0002others(1): Show | a0001c0006t0018g0015 a0001c0011t0011g0138 a0004c0017t0002g0136 others(2): Show |
5 | 266 | 0.0188 | -79 | c.460 others(96): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003411 | CCGCCCTC others(72): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01081.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0004g0227 a0001c0001t0004g0253 a0001c0002t0001g0116 others(25): Show |
29 | 266 | 0.1090 | -79 | c.459 others(96): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003879 | TGCAGTCC others(72): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 NA20300.hp1 |
a0001 | a0001c0011 | a0001c0011t0011a0001c0011t0012 | a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 |
3 | 266 | 0.0113 | -79 | c.459 others(96): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003925 | GTGTGGGA others(72): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(43): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0037others(20): Show | a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0009g0246 others(41): Show |
46 | 266 | 0.1729 | -79 | c.459 others(96): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004004 | ATGTGGGA others(72): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0004 | a0004c0017 | a0004c0017t0002 | a0004c0017t0002g0136 | 1 | 266 | 0.0038 | -79 | c.459 others(96): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar |