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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(942): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 80 | 0.0125 | 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 | a0001c0001t0001g0094 a0001c0001t0001g0222 a0001c0001t0001g0233 others(3): Show |
6 | 33 | 0.1818 | 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 | 28 | 0.0357 | 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 | a0001c0001t0001g0007 a0001c0001t0030g0007 |
6 | 290 | 0.0207 | 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 | a0001c0001t0004g0241 | 1 | 285 | 0.0035 | 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 | a0001c0001t0001g0008 a0001c0001t0031g0262 a0002c0002t0001g0008 |
7 | 212 | 0.0330 | 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 | a0001c0001t0009g0082 | 1 | 206 | 0.0049 | 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 | a0001c0001t0002g0087 | 1 | 262 | 0.0038 | 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 | a0001c0001t0001g0004 | 1 | 343 | 0.0029 | 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 | a0001c0001t0002g0174 a0001c0001t0002g0229 a0001c0001t0002g0230 others(4): Show |
7 | 356 | 0.0197 | 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 | a0001c0002t0003g0158 | 1 | 153 | 0.0065 | 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 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0126 others(31): Show |
34 | 45 | 0.7556 | 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 | a0001c0001t0001g0157 | 1 | 12 | 0.0833 | 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 |
a0003a0017 | a0003c0029a0017c0058 | a0003c0029t0001a0017c0058t0001 | a0003c0029t0001g0217 a0017c0058t0001g0203 |
2 | 13 | 0.1538 | 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 | a0001c0001t0029 | a0001c0001t0029g0153 | 1 | 112 | 0.0089 | 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 | a0001c0001t0011g0315 | 1 | 348 | 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 | a0001c0001t0007g0006 | 1 | 60 | 0.0167 | 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 | a0023 | a0023c0117 | a0023c0117t0006 | a0023c0117t0006g0036 | 1 | 103 | 0.0097 | 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 | a0001c0001t0003g0054 | 1 | 70 | 0.0143 | 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 | 174 | 0.0057 | 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 | a0010 | a0010c0023 | a0010c0023t0001 | a0010c0023t0001g0272 | 1 | 269 | 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 | a0001c0001t0006g0007 a0001c0001t0006g0008 |
2 | 65 | 0.0308 | 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 | a0001c0001t0001g0006 | 1 | 64 | 0.0156 | 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 | a0001c0003t0001g0002 a0001c0003t0001g0025 a0001c0003t0001g0173 others(1): Show |
4 | 343 | 0.0117 | 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 | a0001c0001t0001g0001 | 1 | 337 | 0.0030 | 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 | a0001c0003t0003g0161 a0001c0003t0003g0169 |
2 | 220 | 0.0091 | 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 | 223 | 0.0045 | 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 | 223 | 0.0045 | 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 | 223 | 0.0045 | 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 | 15 | 0.0667 | 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 | a0001c0001t0002g0027 a0001c0001t0008g0036 a0002c0004t0005g0014 |
3 | 17 | 0.1765 | 950 | c.348 others(969): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 8/9 | chr3 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280705 | T | TATATTTT others(943): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0003 | a0001c0003t0035 | a0001c0003t0035g0105 | 1 | 351 | 0.0028 | 950 | c.41- others(965): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322237 | T | TATATATG others(943): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0003 | a0003c0003t0017 | a0003c0003t0017g0131 | 1 | 275 | 0.0036 | 950 | c.-28 others(961): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2732 | chr21 | TogoVar | |||||||
IQCB1_chr3_121764761_121840060 | 121786185 | G | GGAAAGAA others(943): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0136 | 1 | 306 | 0.0033 | 950 | c.127 others(969): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163370 | C | CTCCCTCC others(943): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0083 | 1 | 279 | 0.0036 | 950 | c.258 others(967): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953955 | C | CCCAAACC others(943): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 279 | 0.0036 | 950 | c.503 others(965): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(943): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0018 | a0001c0018t0004 | a0001c0018t0004g0020 | 1 | 8 | 0.1250 | 950 | c.115 others(967): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CTGTCACC others(943): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016 | 1 | 16 | 0.0625 | 950 | c.234 others(965): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | chr20 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CTGTCACC others(943): Show |
intron_variant | MODIFIER | HG01934.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0017 a0001c0001t0012g0018 |
2 | 17 | 0.1176 | 950 | c.234 others(965): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | chr20 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(943): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 135 | 0.0074 | 950 | c.*31 others(961): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OR6K6_chr1_158749720_158760891 | 158756067 | C | CAACTCTC others(943): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0000 | 1 | 434 | 0.0023 | 950 | c.*22 others(959): Show |
OR6K6 | ENSG00000180433.6 | transcript | ENST00000641861.1 | protein_coding | 177 | chr1 | TogoVar | |||||||
OR6K6_chr1_158749720_158760891 | 158756067 | C | CAACTCTC others(943): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 1 | 434 | 0.0023 | 950 | c.*22 others(959): Show |
OR6K6 | ENSG00000180433.6 | transcript | ENST00000641861.1 | protein_coding | 177 | chr1 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(943): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 | 1 | 24 | 0.0417 | 950 | c.371 others(967): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(943): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 24 | 0.0417 | 950 | c.371 others(967): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(943): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 306 | 0.0033 | 950 | c.45- others(965): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77323000 | T | TTATATTA others(943): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 136 | 0.0074 | 950 | c.389 others(971): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(943): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0202 | 1 | 312 | 0.0032 | 950 | c.115 others(967): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(943): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0188 | 1 | 315 | 0.0032 | 950 | c.115 others(967): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414446 | G | GGGAGGGG others(943): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 306 | 0.0033 | 950 | c.115 others(967): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(943): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 1 | 149 | 0.0067 | 950 | c.*73 others(961): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar |