regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(942): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 140 | 0.0071 | 949 | c.133 others(968): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYT1L_chr2_1784113_2336275 | 2035787 | G | AGGTGCAG others(942): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0055 | 1 | 104 | 0.0096 | 949 | c.-15 others(970): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977896 | G | GGGAAGGA others(942): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0132 | 1 | 208 | 0.0048 | 949 | c.279 others(964): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
OR6K6_chr1_158749720_158760891 | 158756067 | C | CAACTCTC others(942): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG02818.hp2 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 6 | 468 | 0.0128 | 949 | c.*22 others(958): Show |
OR6K6 | ENSG00000180433.6 | transcript | ENST00000641861.1 | protein_coding | 177 | chr1 | TogoVar | ||||||
OR6K6_chr1_158749720_158760891 | 158756067 | C | CAACTCTC others(942): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG02922.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0000 | 4 | 468 | 0.0086 | 949 | c.*22 others(958): Show |
OR6K6 | ENSG00000180433.6 | transcript | ENST00000641861.1 | protein_coding | 177 | chr1 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 354 | 0.0028 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0007 | 1 | 354 | 0.0028 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0353 | 1 | 354 | 0.0028 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0352 | 1 | 354 | 0.0028 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 354 | 0.0028 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01123.hp2 others(44): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0060others(44): Show | 47 | 354 | 0.1328 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 354 | 0.0028 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
a0001a0004a0012 | a0001c0001a0004c0006a0012c0018 | a0001c0001t0001a0001c0001t0002a0004c0006t0001others(1): Show | a0001c0001t0001g0306a0001c0001t0001g0349a0001c0001t0001g0350others(3): Show | 6 | 354 | 0.0170 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | NA18977.hp1 NA18984.hp1 |
a0002a0007 | a0002c0003a0007c0009 | a0002c0003t0001a0007c0009t0001 | a0002c0003t0001g0304a0007c0009t0001g0305 | 2 | 354 | 0.0057 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01109.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0016others(17): Show | 20 | 354 | 0.0565 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(942): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0165 | 1 | 308 | 0.0033 | 949 | c.371 others(966): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(942): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0018 | a0018c0018 | a0018c0018t0001 | a0018c0018t0001g0284 | 1 | 308 | 0.0033 | 949 | c.371 others(966): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50344838 | T | TCCCCCCC others(942): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0016 | a0016c0024 | a0016c0024t0007 | a0016c0024t0007g0050 | 1 | 340 | 0.0029 | 949 | c.-14 others(968): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RABL6_chr9_136802948_136846187 | 136803167 | C | CCTCTTGG others(942): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 330 | 0.0030 | 949 | c.-50 others(960): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4780 | chr9 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(942): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | 949 | c.*64 others(960): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(942): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0093a0001c0001t0001g0220a0001c0001t0001g0233others(3): Show | 6 | 258 | 0.0233 | 949 | c.113 others(968): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(942): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 258 | 0.0039 | 949 | c.113 others(968): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(942): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02055.hp1 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0007a0001c0001t0030g0007 | 6 | 432 | 0.0139 | 949 | c.199 others(966): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(942): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0243 | 1 | 432 | 0.0023 | 949 | c.199 others(966): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(942): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01981.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0031a0002c0002t0001 | a0001c0001t0001g0008a0001c0001t0031g0264a0002c0002t0001g0008 | 7 | 432 | 0.0162 | 949 | c.199 others(966): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(942): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0081 | 1 | 432 | 0.0023 | 949 | c.199 others(966): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(942): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 432 | 0.0023 | 949 | c.199 others(966): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TP53AIP1_chr11_128930370_128947871 | 128930831 | C | CAGGGGTT others(942): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 466 | 0.0022 | 949 | c.*47 others(960): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4538 | chr11 | TogoVar | ||||||
TP73_chr1_3647516_3741201 | 3694848 | G | GCAATCCC others(942): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG01169.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0046a0001c0001t0050 | a0001c0001t0002g0173a0001c0001t0002g0229a0001c0001t0002g0230others(4): Show | 7 | 358 | 0.0196 | 949 | c.186 others(968): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(943): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0130 | 1 | 306 | 0.0033 | 950 | c.130 others(969): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(943): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00639.hp1 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(12): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0126others(31): Show | 34 | 248 | 0.1371 | 950 | c.387 others(969): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(943): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 248 | 0.0040 | 950 | c.387 others(969): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(943): Show |
intron_variant | MODIFIER | NA19065.hp1 NA19079.hp1 |
a0003a0014 | a0003c0029a0014c0058 | a0003c0029t0001a0014c0058t0001 | a0003c0029t0001g0213a0014c0058t0001g0218 | 2 | 248 | 0.0081 | 950 | c.387 others(969): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(943): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0153 | 1 | 169 | 0.0059 | 950 | c.48- others(967): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ANKLE2_chr12_132720503_132766832 | 132732319 | T | TGTCTGAT others(943): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0318 | 1 | 350 | 0.0029 | 950 | c.189 others(969): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 10/12 | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 384908 | T | TGGGCAAG others(943): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0092 | 1 | 184 | 0.0054 | 950 | c.*31 others(961): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2792 | chr11 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(943): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0022 | a0022c0117 | a0022c0117t0006 | a0022c0117t0006g0037 | 1 | 338 | 0.0030 | 950 | c.300 others(967): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(943): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 418 | 0.0024 | 950 | c.*51 others(961): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(943): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 236 | 0.0042 | 950 | c.342 others(971): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915278 | G | GTGGTTGA others(943): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0017 | a0017c0024 | a0017c0024t0001 | a0017c0024t0001g0271 | 1 | 274 | 0.0037 | 950 | c.179 others(967): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(943): Show |
intron_variant | MODIFIER | HG03486.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004a0001c0001t0006g0005 | 2 | 274 | 0.0073 | 950 | c.179 others(969): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(943): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 274 | 0.0037 | 950 | c.179 others(969): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEF1A2_chr20_63483014_63504083 | 63486886 | A | ACCTGCCC others(943): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01099.hp1 HG01175.hp2 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0001a0001c0003t0001g0027a0001c0003t0001g0195others(1): Show | 4 | 374 | 0.0107 | 950 | c.*14 others(961): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1127 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486901 | A | ACCCTGAC others(943): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 374 | 0.0027 | 950 | c.*13 others(961): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1112 | chr20 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 520476 | C | CCACCGAG others(943): Show |
intron_variant | MODIFIER | HG03516.hp2 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0161a0001c0003t0003g0169 | 2 | 272 | 0.0074 | 950 | c.238 others(971): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(943): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0175 | 1 | 272 | 0.0037 | 950 | c.238 others(971): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(943): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0193 | 1 | 272 | 0.0037 | 950 | c.238 others(971): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(943): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 | 1 | 272 | 0.0037 | 950 | c.238 others(971): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 59867163 | T | TAATCAGC others(943): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 46 | 0.0217 | 950 | c.348 others(969): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 8/9 | chr3 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 59867163 | T | TAATCAGC others(943): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03225.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0008a0002c0004t0005 | a0001c0001t0002g0027a0001c0001t0008g0036a0002c0004t0005g0014 | 3 | 46 | 0.0652 | 950 | c.348 others(969): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 8/9 | chr3 | TogoVar |