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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYNPR_chr3_63273308_63621924 | 63313810 | CATATATA others(129): Show |
C | intron_variant | MODIFIER | HG03239.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0145 a0001c0001t0002g0174 |
2 | 246 | 0.0081 | -136 | c.84+ others(17): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TAF3_chr10_7813505_8021631 | 7954769 | CTAGTGAG others(129): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03209.hp2 HG03486.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0253 a0001c0004t0002g0337 a0001c0004t0002g0338 |
3 | 344 | 0.0087 | -136 | c.410 others(17): Show |
TAF3 | ENSG00000165632.9 | transcript | ENST00000344293.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82905467 | GTCCCACA others(129): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01070.hp2 others(27): Show |
a0002a0003a0013 | a0002c0007a0003c0004a0003c0018others(2): Show | a0002c0007t0004a0003c0004t0004a0003c0004t0013others(5): Show | a0002c0007t0004g0013 a0002c0007t0004g0021 a0002c0007t0004g0278 others(27): Show |
30 | 318 | 0.0943 | -136 | c.180 others(17): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 19/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TENM2_chr5_166974029_168269157 | 167974094 | GGAAGGAA others(129): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0029 | 1 | 54 | 0.0185 | -136 | c.948 others(19): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TFIP11_chr22_26486240_26517473 | 26495548 | ATGTGTAT others(129): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(130): Show |
a0001a0008a0009 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 others(93): Show |
133 | 420 | 0.3167 | -136 | c.184 others(17): Show |
TFIP11 | ENSG00000100109.17 | transcript | ENST00000407690.6 | protein_coding | 12/14 | chr22 | TogoVar | |||||||
THSD7B_chr2_136760545_137682718 | 136890304 | CTTCTTCT others(129): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG02976.hp2 NA19240.hp1 |
a0001a0019 | a0001c0001a0001c0036a0019c0037 | a0001c0001t0001a0001c0036t0002a0019c0037t0005 | a0001c0001t0001g0062 a0001c0036t0002g0051 a0019c0037t0005g0083 |
3 | 98 | 0.0306 | -136 | c.139 others(17): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72840426 | CAGGCAGA others(129): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0001t0014a0001c0001t0020others(4): Show | a0001c0001t0011g0134 a0001c0001t0011g0145 a0001c0001t0011g0151 others(6): Show |
9 | 182 | 0.0495 | -136 | c.*44 others(11): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2130 | chr9 | TogoVar | |||||||
TMEM131L_chr4_153461360_153641711 | 153578687 | ATTTTTTG others(129): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0020 | 1 | 248 | 0.0040 | -136 | c.661 others(17): Show |
TMEM131L | ENSG00000121210.16 | transcript | ENST00000409959.8 | protein_coding | 7/34 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TMEM132C_chr12_128262170_128712911 | 128285727 | CTCTCTCT others(129): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02523.hp1 HG02630.hp1 others(8): Show |
a0002a0004a0006others(4): Show | a0002c0042a0004c0008a0006c0021others(8): Show | a0002c0042t0009a0004c0008t0003a0006c0021t0002others(8): Show | a0002c0042t0009g0004 a0004c0008t0003g0010 a0006c0021t0002g0002 others(8): Show |
11 | 170 | 0.0647 | -136 | c.85+ others(17): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM144_chr4_158205486_158260416 | 158256972 | TTATATAT others(129): Show |
T | downstream_gene_variant | MODIFIER | HG03195.hp1 NA20129.hp1 |
a0003 | a0003c0003 | a0003c0003t0031 | a0003c0003t0031g0081 a0003c0003t0031g0108 |
2 | 274 | 0.0073 | -136 | c.*34 others(11): Show |
TMEM144 | ENSG00000164124.11 | transcript | ENST00000296529.11 | protein_coding | 1557 | chr4 | TogoVar | |||||||
TMEM144_chr4_158205486_158260416 | 158256992 | ATTATATA others(129): Show |
A | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 274 | 0.0037 | -136 | c.*34 others(11): Show |
TMEM144 | ENSG00000164124.11 | transcript | ENST00000296529.11 | protein_coding | 1577 | chr4 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55746039 | GTGCGGTG others(129): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(203): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(178): Show |
206 | 372 | 0.5538 | -136 | c.688 others(16): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 5/7 | chr8 | TogoVar | |||||||
TNC_chr9_115014575_115123157 | 115095472 | ATATATAT others(129): Show |
A | intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0170 | 1 | 366 | 0.0027 | -136 | c.-13 others(19): Show |
TNC | ENSG00000041982.17 | transcript | ENST00000350763.9 | protein_coding | 1/27 | chr9 | TogoVar | |||||||
TNIP2_chr4_2736648_2761336 | 2748610 | AGCCTCCC others(129): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01516.hp2 HG01884.hp1 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0006 | a0001c0002t0002g0157 a0001c0002t0003g0015 a0001c0002t0003g0026 others(11): Show |
21 | 424 | 0.0495 | -136 | c.277 others(15): Show |
TNIP2 | ENSG00000168884.15 | transcript | ENST00000315423.12 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
TNRC6B_chr22_40172925_40340808 | 40336043 | TCTGCCAC others(129): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02615.hp1 others(4): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0010 | a0001c0001t0034a0001c0001t0093a0001c0001t0127others(4): Show | a0001c0001t0034g0091 a0001c0001t0093g0147 a0001c0001t0127g0085 others(4): Show |
7 | 308 | 0.0227 | -136 | c.*12 others(13): Show |
TNRC6B | ENSG00000100354.21 | transcript | ENST00000454349.7 | protein_coding | 236 | chr22 | TogoVar | |||||||
TRAPPC12_chr2_3374694_3484565 | 3437222 | CATCACCC others(129): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0198 | 1 | 344 | 0.0029 | -136 | c.141 others(19): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRNAU1AP_chr1_28548085_28583545 | 28563411 | GGTGGCTT others(129): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 296 | 0.0034 | -136 | c.279 others(17): Show |
TRNAU1AP | ENSG00000180098.9 | transcript | ENST00000373830.4 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TSPAN32_chr11_2297013_2323204 | 2308416 | CAGTGACC others(129): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(241): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0016 others(192): Show |
244 | 412 | 0.5922 | -136 | c.280 others(14): Show |
TSPAN32 | ENSG00000064201.16 | transcript | ENST00000182290.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TSPAN32_chr11_2297013_2323204 | 2308508 | CAGCCCCC others(129): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 412 | 0.0024 | -136 | c.280 others(14): Show |
TSPAN32 | ENSG00000064201.16 | transcript | ENST00000182290.9 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
TXN2_chr22_36462046_36486640 | 36473077 | TGGGCGAA others(129): Show |
T | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 340 | 0.0029 | -136 | c.387 others(17): Show |
TXN2 | ENSG00000100348.10 | transcript | ENST00000216185.7 | protein_coding | 3/3 | chr22 | TogoVar | |||||||
TXNL1_chr18_56592209_56643592 | 56600464 | TGTGGGGC others(129): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0070 | 1 | 342 | 0.0029 | -136 | c.*24 others(11): Show |
TXNL1 | ENSG00000091164.13 | transcript | ENST00000217515.11 | protein_coding | 8/8 | 2427 | chr18 | TogoVar | ||||||
UNC5A_chr5_176805559_176885898 | 176871581 | CCATCTGC others(129): Show |
C | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 268 | 0.0037 | -136 | c.886 others(17): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
UNK_chr17_75779806_75830799 | 75802861 | CCACACCT others(129): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01496.hp2 HG01928.hp2 others(22): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0006others(5): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0035 others(20): Show |
25 | 358 | 0.0698 | -136 | c.105 others(17): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UST_chr6_148742030_149081990 | 148748513 | GGAAAGAG others(129): Show |
G | intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 210 | 0.0048 | -136 | c.247 others(15): Show |
UST | ENSG00000111962.8 | transcript | ENST00000367463.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169759 | TCCCTCCC others(129): Show |
T | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02083.hp1 HG02109.hp2 others(3): Show |
a0003 | a0003c0003a0003c0009a0003c0014 | a0003c0003t0001a0003c0009t0001a0003c0014t0001 | a0003c0003t0001g0002 a0003c0009t0001g0017 a0003c0014t0001g0048 |
6 | 115 | 0.0522 | -136 | c.*13 others(9): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 184 | chrX | TogoVar | |||||||
VPS53_chr17_503668_719839 | 605634 | CCATCATA others(129): Show |
C | intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0218 | 1 | 232 | 0.0043 | -136 | c.111 others(19): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
WDR27_chr6_169452212_169707029 | 169464925 | CCAGCCTG others(129): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0026 | a0002c0026t0003 | a0002c0026t0003g0249 | 1 | 294 | 0.0034 | -136 | c.264 others(19): Show |
WDR27 | ENSG00000184465.16 | transcript | ENST00000448612.6 | protein_coding | 25/25 | chr6 | TogoVar | |||||||
WNK1_chr12_747579_916452 | 783772 | AAAAAAAA others(129): Show |
A | intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0056 | 1 | 284 | 0.0035 | -136 | c.759 others(19): Show |
WNK1 | ENSG00000060237.19 | transcript | ENST00000315939.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
XXYLT1_chr3_195063284_195276159 | 195145483 | TGGGCACC others(129): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG02486.hp1 HG02559.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0100 a0001c0001t0002g0119 a0001c0001t0002g0120 others(14): Show |
17 | 198 | 0.0859 | -136 | c.785 others(19): Show |
XXYLT1 | ENSG00000173950.16 | transcript | ENST00000310380.11 | protein_coding | 3/3 | chr3 | TogoVar | |||||||
XXYLT1_chr3_195063284_195276159 | 195272798 | AGTAGGCA others(129): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp1 HG03209.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0012 | a0001c0001t0001g0100 a0001c0001t0007g0104 a0001c0001t0012g0113 |
3 | 198 | 0.0152 | -136 | c.-18 others(11): Show |
XXYLT1 | ENSG00000173950.16 | transcript | ENST00000310380.11 | protein_coding | 1640 | chr3 | TogoVar | |||||||
YTHDC2_chr5_113508694_113600284 | 113587078 | TAATATAT others(129): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0259 | 1 | 316 | 0.0032 | -136 | c.382 others(19): Show |
YTHDC2 | ENSG00000047188.16 | transcript | ENST00000161863.9 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
YWHAQ_chr2_9578967_9635997 | 9582562 | ACTCCTGA others(129): Show |
A | downstream_gene_variant | MODIFIER | HG01517.hp2 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0164 |
2 | 272 | 0.0074 | -136 | c.*25 others(11): Show |
YWHAQ | ENSG00000134308.14 | transcript | ENST00000238081.8 | protein_coding | 1404 | chr2 | TogoVar | |||||||
ZNF169_chr9_94254298_94306829 | 94270862 | ATAATATA others(129): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(112): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(8): Show | a0001c0001t0001g0073 a0001c0001t0001g0201 a0001c0001t0001g0202 others(97): Show |
115 | 382 | 0.3011 | -136 | c.-55 others(17): Show |
ZNF169 | ENSG00000175787.17 | transcript | ENST00000395395.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZNF415_chr19_53102879_53137910 | 53118894 | CAGCACTT others(129): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG03225.hp1 |
a0008 | a0008c0008 | a0008c0008t0005 | a0008c0008t0005g0010 | 2 | 428 | 0.0047 | -136 | c.16- others(15): Show |
ZNF415 | ENSG00000170954.12 | transcript | ENST00000243643.9 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
ZNF573_chr19_37733302_37784586 | 37751291 | TATAGACA others(129): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG02083.hp2 HG02132.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 others(2): Show |
5 | 350 | 0.0143 | -136 | c.296 others(19): Show |
ZNF573 | ENSG00000189144.15 | transcript | ENST00000536220.7 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ZNF573_chr19_37733302_37784586 | 37751489 | TATAGACA others(129): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01496.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0318 a0003c0003t0001g0319 a0003c0003t0001g0325 others(1): Show |
4 | 350 | 0.0114 | -136 | c.296 others(19): Show |
ZNF573 | ENSG00000189144.15 | transcript | ENST00000536220.7 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ZNF688_chr16_30564726_30576714 | 30575438 | GGTTTTGC others(129): Show |
G | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 300 | 0.0033 | -136 | c.-39 others(11): Show |
ZNF688 | ENSG00000229809.9 | transcript | ENST00000223459.11 | protein_coding | 3725 | chr16 | TogoVar | |||||||
ZNF723_chr19_22827291_22863667 | 22862479 | TATATTAT others(129): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02273.hp2 HG03098.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 a0002c0002t0001g0072 a0002c0002t0001g0073 others(2): Show |
6 | 364 | 0.0165 | -136 | c.*40 others(11): Show |
ZNF723 | ENSG00000268696.3 | transcript | ENST00000600766.3 | protein_coding | 3813 | chr19 | TogoVar | |||||||
ZNF723_chr19_22827291_22863667 | 22862484 | TATATATA others(129): Show |
T | downstream_gene_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 364 | 0.0028 | -136 | c.*40 others(11): Show |
ZNF723 | ENSG00000268696.3 | transcript | ENST00000600766.3 | protein_coding | 3818 | chr19 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967378 | TATATAAT others(128): Show |
T | upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 324 | 0.0031 | -135 | c.-30 others(11): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2925 | chr17 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137003900 | CCCCCATC others(128): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00741.hp1 others(18): Show |
a0001a0004a0009 | a0001c0001a0001c0002a0004c0010others(1): Show | a0001c0001t0001a0001c0002t0002a0004c0010t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0028 others(12): Show |
21 | 320 | 0.0656 | -135 | c.*38 others(11): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3333 | chr9 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1151877 | GGGCGTGG others(128): Show |
G | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp2 HG02523.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0187 a0001c0001t0004g0257 a0001c0001t0004g0293 others(7): Show |
10 | 337 | 0.0297 | -135 | c.62- others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1151964 | CTAACACG others(128): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02965.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0075a0001c0002t0012a0001c0009t0018 | a0001c0001t0075g0156 a0001c0002t0012g0244 a0001c0009t0018g0102 |
3 | 337 | 0.0089 | -135 | c.62- others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACSL5_chr10_112369116_112433376 | 112392252 | ACTTGAGC others(128): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show |
a0001 | a0001c0001a0001c0005a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(101): Show |
106 | 364 | 0.2912 | -135 | c.-29 others(17): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 937207 | CTCTGGGA others(128): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG01346.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0003g0003 |
3 | 14 | 0.2143 | -135 | c.83- others(15): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1189798 | AGAACACG others(128): Show |
A | intron_variant | MODIFIER | HG00438.hp2 NA19043.hp1 NA21309.hp2 |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0025a0001c0003t0045a0003c0006t0067 | a0001c0001t0025g0036 a0001c0003t0045g0057 a0003c0006t0067g0080 |
3 | 106 | 0.0283 | -135 | c.186 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 8/9 | chr10 | TogoVar | |||||||
ADGRE1_chr19_6882579_6945450 | 6936811 | CGGGTTTT others(128): Show |
C | intron_variant | MODIFIER | HG01070.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0047 | 1 | 338 | 0.0030 | -135 | c.238 others(17): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AMPD1_chr1_114668098_114700546 | 114699756 | AGGAGATT others(128): Show |
A | upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 358 | 0.0028 | -135 | c.-44 others(11): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 4211 | chr1 | TogoVar | |||||||
APOB_chr2_20996429_21049073 | 21001069 | ATTTAATT others(128): Show |
A | downstream_gene_variant | MODIFIER | NA18939.hp2 NA18948.hp2 NA18986.hp2 others(1): Show |
a0001a0035 | a0001c0014a0035c0063 | a0001c0014t0001a0035c0063t0001 | a0001c0014t0001g0007 a0035c0063t0001g0135 |
4 | 350 | 0.0114 | -135 | c.*52 others(9): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 359 | chr2 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144683491 | CGTGAGCC others(128): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 246 | 0.0041 | -135 | c.-82 others(17): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar |