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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGDIG_chr16_275591_288010 | 281284 | G | GGAGGGCC others(30): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00642.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0026 a0001c0001t0004g0006 a0001c0001t0006g0024 others(4): Show |
23 | 424 | 0.0542 | 37 | c.74- others(50): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1825108 | C | CCCGCACC others(30): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0036 | a0001c0036t0003 | a0001c0036t0003g0094 | 1 | 352 | 0.0028 | 37 | c.-48 others(52): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7367875 | T | TATATACA others(30): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0015 | 1 | 293 | 0.0034 | 37 | c.16- others(52): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF1_chr19_41878184_41912452 | 41893782 | G | GGGGGCCT others(30): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 232 | 0.0043 | 37 | c.645 others(52): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF38_chr4_105547620_105685914 | 105561400 | T | TAGAATAG others(30): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 124 | 0.0081 | 37 | c.196 others(54): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARHGEF38_chr4_105547620_105685914 | 105561400 | T | TAGAATAG others(30): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 124 | 0.0081 | 37 | c.196 others(54): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARID4A_chr14_58293555_58378876 | 58337246 | T | TATATATA others(30): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 103 | 0.0097 | 37 | c.906 others(54): Show |
ARID4A | ENSG00000032219.19 | transcript | ENST00000355431.8 | protein_coding | 11/23 | chr14 | TogoVar | |||||||
ARID5B_chr10_61896699_62101944 | 62098780 | G | GTCTGGCA others(30): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 242 | 0.0041 | 37 | c.*57 others(48): Show |
ARID5B | ENSG00000150347.17 | transcript | ENST00000279873.12 | protein_coding | 1837 | chr10 | TogoVar | |||||||
ARL14EP_chr11_30318104_30343223 | 30334208 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | NA19065.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0092 |
2 | 154 | 0.0130 | 37 | c.554 others(54): Show |
ARL14EP | ENSG00000152219.5 | transcript | ENST00000282032.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARL5C_chr17_39151894_39171161 | 39153340 | T | TGTGTGTG others(30): Show |
downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 408 | 0.0025 | 37 | c.*35 others(48): Show |
ARL5C | ENSG00000141748.13 | transcript | ENST00000269586.12 | protein_coding | 3553 | chr17 | TogoVar | |||||||
ARMC10_chr7_103070140_103104759 | 103099593 | T | TGTGTGTG others(30): Show |
3_prime_UTR_variant | MODIFIER | HG01099.hp2 HG01169.hp2 HG01256.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0047a0001c0001t0057 | a0001c0001t0038g0001 a0001c0001t0038g0007 a0001c0001t0047g0027 others(1): Show |
5 | 371 | 0.0135 | 37 | c.*10 others(48): Show |
ARMC10 | ENSG00000170632.14 | transcript | ENST00000323716.8 | protein_coding | 7/7 | 1041 | chr7 | TogoVar | ||||||
ARMC9_chr2_231193631_231381848 | 231249801 | A | ACCCACCC others(30): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0028 | 1 | 164 | 0.0061 | 37 | c.880 others(54): Show |
ARMC9 | ENSG00000135931.19 | transcript | ENST00000611582.5 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARSD_chrX_2898972_2934339 | 2901496 | T | TTCTCGTG others(30): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(106): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(30): Show | a0001c0001t0001g0031 a0001c0001t0001g0173 a0001c0001t0001g0175 others(92): Show |
109 | 342 | 0.3187 | 37 | c.*57 others(48): Show |
ARSD | ENSG00000006756.16 | transcript | ENST00000381154.6 | protein_coding | 2475 | chrX | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130123706 | A | AAGCTCCG others(30): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 | 1 | 306 | 0.0033 | 37 | c.160 others(54): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 18/29 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9254236 | A | AAAAAAAT others(30): Show |
intron_variant | MODIFIER | HG02004.hp2 NA18946.hp2 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0014 | a0002c0001t0001g0092 a0002c0001t0014g0091 |
2 | 95 | 0.0211 | 37 | c.127 others(56): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9397750 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0174 | 1 | 112 | 0.0089 | 37 | c.268 others(56): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236202794 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 a0001c0001t0001g0204 |
2 | 131 | 0.0153 | 37 | c.110 others(56): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176218550 | G | GATATATA others(30): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02809.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0298 |
4 | 325 | 0.0123 | 37 | c.671 others(54): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72198338 | G | GCGGAGGG others(30): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0012 | 1 | 213 | 0.0047 | 37 | c.311 others(54): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
ASCC2_chr22_29783611_29843274 | 29837174 | T | TAATCCCA others(30): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0110 | 1 | 370 | 0.0027 | 37 | c.-18 others(53): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 1/19 | chr22 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608451 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0011 | 1 | 269 | 0.0037 | 37 | c.478 others(56): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASIP_chr20_34236423_34274344 | 34258700 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 235 | 0.0043 | 37 | c.-10 others(54): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34258700 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 235 | 0.0043 | 37 | c.-10 others(54): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASPG_chr14_104080700_104120582 | 104085483 | A | ACCCCGCC others(30): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02647.hp2 HG03130.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0019 | a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0019g0167 |
3 | 153 | 0.0196 | 37 | c.-28 others(46): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 216 | chr14 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62383631 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0006 | a0001c0006t0022 | a0001c0006t0022g0159 | 1 | 368 | 0.0027 | 37 | c.492 others(54): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
ATAD1_chr10_87746512_87823226 | 87798625 | G | GTGTGTGT others(30): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 144 | 0.0069 | 37 | c.163 others(54): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23745422 | A | AAGGAAGG others(30): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0234 | 1 | 175 | 0.0057 | 37 | c.*66 others(48): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 3241 | chr2 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123354864 | A | AAAAAAAT others(30): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0261 | 1 | 135 | 0.0074 | 37 | c.164 others(56): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 13/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123377091 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18965.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0243 a0001c0001t0001g0264 a0001c0001t0002g0055 |
3 | 49 | 0.0612 | 37 | c.320 others(54): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | |||||||
ATCAY_chr19_3875685_3933082 | 3914235 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02818.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0187 a0001c0001t0001g0317 others(1): Show |
4 | 50 | 0.0800 | 37 | c.965 others(52): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATF1_chr12_50759101_50826162 | 50823624 | A | ATCTATAT others(30): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01243.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0017 | a0001c0001t0001g0002 a0001c0001t0001g0255 a0001c0001t0001g0258 others(4): Show |
7 | 292 | 0.0240 | 37 | c.*38 others(48): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2463 | chr12 | TogoVar | |||||||
ATF6_chr1_161761320_161969070 | 161920294 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0005 | a0004c0005t0063 | a0004c0005t0063g0313 | 1 | 2 | 0.5000 | 37 | c.180 others(56): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14505964 | T | TACTGTTA others(30): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 344 | 0.0029 | 37 | c.*78 others(48): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 3035 | chr12 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82118400 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02015.hp2 NA18974.hp2 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0008 | a0003c0003t0001g0201 a0003c0003t0001g0206 a0004c0004t0008g0198 |
3 | 188 | 0.0160 | 37 | c.217 others(56): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82121941 | G | GTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 176 | 0.0057 | 37 | c.217 others(56): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38337486 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0140 | 1 | 28 | 0.0357 | 37 | c.363 others(54): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52679772 | T | TCCTCCTC others(30): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0137 | 1 | 299 | 0.0033 | 37 | c.-10 others(48): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 385 | chr15 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203719574 | G | GTGGTGCG others(30): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0007 | a0007c0018 | a0007c0018t0003 | a0007c0018t0003g0048 | 1 | 316 | 0.0032 | 37 | c.240 others(54): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP5MC1_chr17_48887787_48900871 | 48899067 | C | CAAAAAAA others(30): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 8 | 0.1250 | 37 | c.*32 others(48): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 68 | 0.0147 | 37 | c.39+ others(50): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP5ME_chr4_667436_679276 | 668886 | T | TGCTATTC others(30): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 329 | 0.0061 | 37 | c.*35 others(48): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3549 | chr4 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138737113 | T | TATATATA others(30): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02015.hp2 HG02129.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0014others(3): Show | a0001c0001t0001a0001c0005t0001a0001c0014t0001others(3): Show | a0001c0001t0001g0048 a0001c0001t0001g0078 a0001c0001t0001g0090 others(19): Show |
22 | 185 | 0.1189 | 37 | c.157 others(56): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25399980 | G | GACAGGAT others(30): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp2 others(98): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(88): Show | a0001c0001t0001g0036 a0001c0001t0002g0079 a0001c0001t0003g0093 others(98): Show |
101 | 120 | 0.8417 | 37 | c.76+ others(54): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | chr13 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115381432 | A | ATTTTTTT others(30): Show |
intron_variant | MODIFIER | HG01361.hp1 HG04115.hp2 NA19011.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0004a0001c0002t0005a0001c0009t0005 | a0001c0002t0004g0065 a0001c0002t0005g0055 a0001c0009t0005g0057 |
3 | 36 | 0.0833 | 37 | c.317 others(58): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105731748 | A | AAAAAGAA others(30): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01884.hp2 HG01891.hp1 others(17): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0015 a0001c0001t0002g0005 a0001c0001t0002g0145 others(17): Show |
20 | 71 | 0.2817 | 37 | c.355 others(56): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105731748 | A | AAAGAGAA others(30): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0167 | 1 | 52 | 0.0192 | 37 | c.355 others(56): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105733881 | T | TCCATCTA others(30): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 248 | 0.0040 | 37 | c.355 others(56): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70053544 | G | GTTTGTTT others(30): Show |
intron_variant | MODIFIER | HG02257.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0012 | a0001c0001t0006g0010 a0001c0004t0012g0025 |
2 | 29 | 0.0690 | 37 | c.523 others(56): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33899460 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 6 | 0.1667 | 37 | c.446 others(56): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65565214 | A | ATTTGATG others(30): Show |
upstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0045 | 1 | 400 | 0.0025 | 37 | c.-38 others(48): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 3567 | chr17 | TogoVar |