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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(1674): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0021a0001c0006t0032 | a0001c0001t0021g0001 a0001c0006t0032g0270 |
3 | 295 | 0.0102 | 1681 | c.126 others(1700): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547310 | T | TAAATTAT others(1674): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 334 | 0.0030 | 1681 | c.45- others(1696): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1674): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040 | 1 | 134 | 0.0075 | 1681 | c.-28 others(1700): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1674): Show |
intron_variant | MODIFIER | HG02735.hp1 HG04115.hp1 HG04228.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001a0002c0001t0010 | a0001c0002t0002g0060 a0001c0002t0002g0079 a0002c0001t0001g0103 others(1): Show |
4 | 134 | 0.0299 | 1681 | c.-28 others(1700): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1674): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0084 | 1 | 134 | 0.0075 | 1681 | c.-28 others(1700): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC4A7_chr3_27367723_27489384 | 27489081 | T | TCCTAGGA others(1674): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00735.hp1 others(32): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0011a0001c0002t0004a0001c0002t0011others(5): Show | a0001c0001t0011g0052 a0001c0002t0004g0060 a0001c0002t0004g0061 others(32): Show |
35 | 302 | 0.1159 | 1681 | c.-49 others(1692): Show |
SLC4A7 | ENSG00000033867.18 | transcript | ENST00000454389.6 | protein_coding | 4698 | chr3 | TogoVar | |||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1674): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 362 | 0.0028 | 1681 | c.266 others(1696): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1674): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 362 | 0.0028 | 1681 | c.266 others(1696): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311512 | C | CCCATTGT others(1674): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0317 | 1 | 344 | 0.0029 | 1681 | c.327 others(1698): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311512 | C | CCCATTGT others(1674): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0315 a0001c0001t0008g0316 a0001c0001t0008g0318 |
3 | 344 | 0.0087 | 1681 | c.327 others(1698): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132759517 | A | ATATGATA others(1675): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 350 | 0.0029 | 1682 | c.181 others(1699): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(1675): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 354 | 0.0028 | 1682 | c.-22 others(1699): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(1675): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 354 | 0.0028 | 1682 | c.-22 others(1699): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185865 | G | GGTCAGCG others(1675): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 338 | 0.0030 | 1682 | c.300 others(1699): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185865 | G | GGTCAGCG others(1675): Show |
intron_variant | MODIFIER | HG00733.hp2 NA20905.hp2 |
a0023a0029 | a0023c0118a0029c0119 | a0023c0118t0006a0029c0119t0003 | a0023c0118t0006g0189 a0029c0119t0003g0190 |
2 | 338 | 0.0059 | 1682 | c.300 others(1699): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(1675): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 148 | 0.0068 | 1682 | c.183 others(1701): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157369865 | C | CACATTAT others(1675): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0354 | 1 | 372 | 0.0027 | 1682 | c.346 others(1699): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1675): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0033 | a0033c0046 | a0033c0046t0001 | a0033c0046t0001g0078 | 1 | 168 | 0.0060 | 1682 | c.338 others(1701): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132242456 | A | ATTACACA others(1675): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0047 | 1 | 183 | 0.0055 | 1682 | c.107 others(1701): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323548 | G | GTGTGTGT others(1675): Show |
upstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046 | 1 | 155 | 0.0065 | 1682 | c.-47 others(1693): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4753 | chrX | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173084 | T | TCTCTCTC others(1675): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0042 | 1 | 158 | 0.0063 | 1682 | c.*11 others(1703): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514126 | C | CCCTCCTT others(1675): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0005 | a0005c0004 | a0005c0004t0006 | a0005c0004t0006g0220 | 1 | 254 | 0.0039 | 1682 | c.-84 others(1699): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322961 | C | CACATATT others(1675): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0006 | a0006c0004 | a0006c0004t0007 | a0006c0004t0007g0024 | 1 | 242 | 0.0041 | 1682 | c.174 others(1701): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130392942 | T | TTGAATGT others(1675): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 HG03195.hp1 |
a0002a0016 | a0002c0014a0016c0047 | a0002c0014t0004a0016c0047t0004 | a0002c0014t0004g0144 a0016c0047t0004g0167 |
2 | 180 | 0.0111 | 1682 | c.*44 others(1693): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3190 | chr12 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1675): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0043 | 1 | 134 | 0.0075 | 1682 | c.-28 others(1701): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC4A7_chr3_27367723_27489384 | 27489081 | T | TCCTAGGA others(1675): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG02145.hp1 NA18989.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0012 | a0001c0002t0004g0075 a0001c0002t0004g0086 a0001c0002t0012g0050 |
3 | 302 | 0.0099 | 1682 | c.-49 others(1693): Show |
SLC4A7 | ENSG00000033867.18 | transcript | ENST00000454389.6 | protein_coding | 4698 | chr3 | TogoVar | |||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1675): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0297 a0001c0001t0001g0298 others(2): Show |
5 | 362 | 0.0138 | 1682 | c.266 others(1697): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870189 | A | ACCCCACA others(1675): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 338 | 0.0030 | 1682 | c.*35 others(1701): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1676): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 298 | 0.0034 | 1683 | c.955 others(1700): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185865 | G | GGTCAGCG others(1676): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0007 | a0007c0004 | a0007c0004t0003 | a0007c0004t0003g0181 | 1 | 338 | 0.0030 | 1683 | c.300 others(1700): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185865 | G | GGTCAGCG others(1676): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0275 | 1 | 338 | 0.0030 | 1683 | c.300 others(1700): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(1676): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 58 | 0.0172 | 1683 | c.234 others(1704): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803287 | C | CCCCCCAG others(1676): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 398 | 0.0025 | 1683 | c.666 others(1698): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1676): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 316 | 0.0032 | 1683 | c.44- others(1696): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(1676): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 148 | 0.0068 | 1683 | c.183 others(1702): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 467577 | C | CCCAGGCT others(1676): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 HG03041.hp1 HG03195.hp2 others(1): Show |
a0001a0023a0057 | a0001c0011a0023c0100a0057c0130 | a0001c0011t0001a0023c0100t0004a0057c0130t0001 | a0001c0011t0001g0023 a0001c0011t0001g0024 a0023c0100t0004g0054 others(1): Show |
4 | 256 | 0.0156 | 1683 | c.*33 others(1694): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 2323 | chr9 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 467577 | C | CCCAGGCT others(1676): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0005 | a0005c0146 | a0005c0146t0001 | a0005c0146t0001g0172 | 1 | 256 | 0.0039 | 1683 | c.*33 others(1694): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 2323 | chr9 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435459 | A | AGGAAGGG others(1676): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0041 | 1 | 96 | 0.0104 | 1683 | c.-16 others(1704): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(1676): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 395 | 0.0025 | 1683 | c.*69 others(1694): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322730 | T | TGTATATA others(1676): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 | 1 | 323 | 0.0031 | 1683 | c.-23 others(1694): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2239 | chr21 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876829 | T | TGGAGGTT others(1676): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0013 | a0013c0025 | a0013c0025t0008 | a0013c0025t0008g0245 | 1 | 274 | 0.0037 | 1683 | c.224 others(1702): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877295 | T | TAGGGAGG others(1676): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0127 | 1 | 274 | 0.0037 | 1683 | c.224 others(1702): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877333 | T | TGGAGGTT others(1676): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0219 | 1 | 274 | 0.0037 | 1683 | c.224 others(1702): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1676): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0014 | a0001c0014t0007 | a0001c0014t0007g0082 | 1 | 326 | 0.0031 | 1683 | c.162 others(1702): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811306 | T | TTCCCTCC others(1676): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 178 | 0.0056 | 1683 | c.773 others(1698): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(1676): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18981.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 | 2 | 367 | 0.0055 | 1683 | c.4-1 others(1696): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803287 | C | CCCCCCAG others(1676): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0170 | 1 | 330 | 0.0030 | 1683 | c.-49 others(1694): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4660 | chr9 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1676): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0090 | 1 | 134 | 0.0075 | 1683 | c.-28 others(1702): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1676): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 322 | 0.0031 | 1683 | c.-93 others(1700): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976136 | A | AGGGTCCC others(1676): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0095 | 1 | 116 | 0.0086 | 1683 | c.199 others(1702): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |