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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LEO1_chr15_51933025_51976778 | 51972555 | C | CGCTCACG others(1068): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 205 | 0.0098 | 1075 | c.-81 others(1084): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 778 | chr15 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949673 | C | CCCCCCTG others(1068): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 214 | 0.0047 | 1075 | c.360 others(1094): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OPA3_chr19_45541281_45589802 | 45580001 | C | CTTTTTTT others(1068): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 254 | 0.0039 | 1075 | c.142 others(1092): Show |
OPA3 | ENSG00000125741.6 | transcript | ENST00000263275.5 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ATATATAC others(1068): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 278 | 0.0036 | 1075 | c.-15 others(1086): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31886826 | T | TTTCAGAA others(1068): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 202 | 0.0050 | 1075 | c.129 others(1092): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PPM1G_chr2_27376199_27414591 | 27377016 | T | TGGCTGGG others(1068): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 258 | 0.0039 | 1075 | c.*45 others(1086): Show |
PPM1G | ENSG00000115241.11 | transcript | ENST00000344034.5 | protein_coding | 4182 | chr2 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1068): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0226 a0002c0002t0001g0227 |
2 | 68 | 0.0294 | 1075 | c.306 others(1094): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1068): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01167.hp2 HG01981.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(2): Show | a0001c0001t0001g0058 a0001c0001t0008g0101 a0001c0001t0013g0062 others(2): Show |
5 | 71 | 0.0704 | 1075 | c.306 others(1094): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(1068): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0143 | 1 | 167 | 0.0060 | 1075 | c.126 others(1094): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1068): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0015 | a0001c0001t0005g0203 a0001c0001t0007g0200 a0001c0001t0015g0225 |
3 | 238 | 0.0126 | 1075 | c.139 others(1092): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1068): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0164 | 1 | 236 | 0.0042 | 1075 | c.139 others(1092): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1068): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0004 | a0001c0004t0025 | a0001c0004t0025g0100 | 1 | 236 | 0.0042 | 1075 | c.139 others(1092): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1068): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0054a0001c0001t0057 | a0001c0001t0054g0171 a0001c0001t0057g0168 |
2 | 237 | 0.0084 | 1075 | c.139 others(1092): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1068): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0193 | 1 | 236 | 0.0042 | 1075 | c.139 others(1092): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1068): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0028 | 1 | 2 | 0.5000 | 1075 | c.438 others(1092): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1068): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0062 | 1 | 2 | 0.5000 | 1075 | c.438 others(1092): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1068): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0151 | 1 | 2 | 0.5000 | 1075 | c.438 others(1092): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1068): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG03942.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0192 a0001c0002t0001g0214 a0001c0002t0001g0302 |
3 | 4 | 0.7500 | 1075 | c.438 others(1092): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1068): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0016 | 1 | 2 | 0.5000 | 1075 | c.438 others(1092): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1068): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 2 | 0.5000 | 1075 | c.438 others(1092): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1068): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00673.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0195 others(54): Show |
57 | 58 | 0.9828 | 1075 | c.438 others(1092): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1068): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0226 | 1 | 2 | 0.5000 | 1075 | c.438 others(1092): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1068): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 2 | 0.5000 | 1075 | c.438 others(1092): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(1068): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0166 | 1 | 2 | 0.5000 | 1075 | c.438 others(1092): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(1068): Show |
intron_variant | MODIFIER | HG02040.hp2 HG04199.hp1 NA18964.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0276 a0001c0001t0001g0299 a0001c0001t0001g0320 others(6): Show |
9 | 10 | 0.9000 | 1075 | c.438 others(1092): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(1068): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01106.hp2 HG01433.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0005a0001c0004t0017others(1): Show | a0001c0001t0001g0202 a0001c0004t0005g0194 a0001c0004t0005g0332 others(3): Show |
6 | 7 | 0.8571 | 1075 | c.438 others(1092): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1068): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0121 | 1 | 100 | 0.0100 | 1075 | c.45- others(1090): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1068): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0119 | 1 | 28 | 0.0357 | 1075 | c.113 others(1094): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1272801 | G | GACCGCCA others(1068): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0209 | 1 | 378 | 0.0026 | 1075 | c.228 others(1092): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273640 | G | GACCGCCA others(1068): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 276 | 0.0036 | 1075 | c.228 others(1094): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TEX29_chr13_111315642_111349248 | 111340261 | A | AATCATAA others(1068): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 394 | 0.0025 | 1075 | c.239 others(1090): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TEX29_chr13_111315642_111349248 | 111340304 | A | AATCATAA others(1068): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 | 1 | 319 | 0.0031 | 1075 | c.239 others(1090): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TEX29_chr13_111315642_111349248 | 111340304 | A | AATCATAA others(1068): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0226 | 1 | 319 | 0.0031 | 1075 | c.239 others(1090): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TEX29_chr13_111315642_111349248 | 111341379 | A | AATCATAA others(1068): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 375 | 0.0027 | 1075 | c.240 others(1092): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1068): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 50 | 0.0200 | 1075 | c.*24 others(1086): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1068): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 277 | 0.0036 | 1075 | c.129 others(1092): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675038 | T | TCCTGCCT others(1068): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 155 | 0.0065 | 1075 | c.483 others(1090): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1068): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 100 | 0.0100 | 1075 | c.-10 others(1092): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZNF560_chr19_9461355_9503616 | 9491840 | A | AATTCTTA others(1068): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0272 | 1 | 355 | 0.0028 | 1075 | c.-57 others(1092): Show |
ZNF560 | ENSG00000198028.4 | transcript | ENST00000301480.5 | protein_coding | 2/9 | chr19 | TogoVar | |||||||
ZNF560_chr19_9461355_9503616 | 9491840 | A | AATTCTTA others(1068): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 355 | 0.0028 | 1075 | c.-57 others(1092): Show |
ZNF560 | ENSG00000198028.4 | transcript | ENST00000301480.5 | protein_coding | 2/9 | chr19 | TogoVar | |||||||
ZNF560_chr19_9461355_9503616 | 9491840 | A | AATTCTTA others(1068): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0048 | 1 | 355 | 0.0028 | 1075 | c.-57 others(1092): Show |
ZNF560 | ENSG00000198028.4 | transcript | ENST00000301480.5 | protein_coding | 2/9 | chr19 | TogoVar | |||||||
ZNF560_chr19_9461355_9503616 | 9491840 | A | AATTCTTA others(1068): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01109.hp1 others(21): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0005c0006t0001 | a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0275 others(15): Show |
24 | 378 | 0.0635 | 1075 | c.-57 others(1092): Show |
ZNF560 | ENSG00000198028.4 | transcript | ENST00000301480.5 | protein_coding | 2/9 | chr19 | TogoVar | |||||||
ZNF560_chr19_9461355_9503616 | 9491840 | A | AATTCTTA others(1068): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 355 | 0.0028 | 1075 | c.-57 others(1092): Show |
ZNF560 | ENSG00000198028.4 | transcript | ENST00000301480.5 | protein_coding | 2/9 | chr19 | TogoVar | |||||||
ZNF560_chr19_9461355_9503616 | 9491840 | A | AATTCTTA others(1068): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01346.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0045 a0001c0001t0001g0273 a0001c0001t0001g0274 others(7): Show |
11 | 365 | 0.0301 | 1075 | c.-57 others(1092): Show |
ZNF560 | ENSG00000198028.4 | transcript | ENST00000301480.5 | protein_coding | 2/9 | chr19 | TogoVar | |||||||
ZNF560_chr19_9461355_9503616 | 9491840 | A | AATTCTTA others(1068): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03195.hp2 NA19043.hp1 |
a0002a0009 | a0002c0002a0009c0009 | a0002c0002t0002a0009c0009t0002 | a0002c0002t0002g0264 a0002c0002t0002g0266 a0009c0009t0002g0267 |
3 | 357 | 0.0084 | 1075 | c.-57 others(1092): Show |
ZNF560 | ENSG00000198028.4 | transcript | ENST00000301480.5 | protein_coding | 2/9 | chr19 | TogoVar | |||||||
ZNF560_chr19_9461355_9503616 | 9491840 | A | AATTCTTA others(1068): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02559.hp1 HG02630.hp2 others(8): Show |
a0002 | a0002c0002a0002c0012 | a0002c0002t0001a0002c0002t0002a0002c0012t0002 | a0002c0002t0001g0260 a0002c0002t0002g0043 a0002c0002t0002g0044 others(6): Show |
11 | 365 | 0.0301 | 1075 | c.-57 others(1092): Show |
ZNF560 | ENSG00000198028.4 | transcript | ENST00000301480.5 | protein_coding | 2/9 | chr19 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975241 | T | TTATAAAT others(1069): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0125 | 1 | 194 | 0.0052 | 1076 | c.130 others(1095): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1069): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 153 | 0.0065 | 1076 | c.130 others(1095): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1069): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0051 | a0001c0003t0051g0105 | 1 | 40 | 0.0250 | 1076 | c.179 others(1097): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45224519 | G | GGGTTCGG others(1069): Show |
3_prime_UTR_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0106 | a0001c0002t0106g0151 | 1 | 348 | 0.0029 | 1076 | c.*23 others(1087): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |