| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DECR2_chr16_396885_417482 | 397739 | T | TGGGGGGG others(717): Show |
upstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 367 | 0.0027 | 724 | c.-42 others(735): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4145 | chr16 | TogoVar | ||||||
| DHRS3_chr1_12562910_12623210 | 12565675 | C | CTCCTGGC others(717): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00735.hp1 others(35): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(13): Show | a0001c0001t0002g0110a0001c0001t0002g0114a0001c0001t0002g0161others(34): Show | 38 | 376 | 0.1011 | 724 | c.*26 others(735): Show |
DHRS3 | ENSG00000162496.9 | transcript | ENST00000616661.5 | protein_coding | 2234 | chr1 | TogoVar | ||||||
| DHRS3_chr1_12562910_12623210 | 12565675 | C | CTCCTGGC others(717): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 376 | 0.0027 | 724 | c.*26 others(735): Show |
DHRS3 | ENSG00000162496.9 | transcript | ENST00000616661.5 | protein_coding | 2234 | chr1 | TogoVar | ||||||
| DPEP1_chr16_89608642_89643433 | 89619063 | C | CCCCCCCC others(717): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 250 | 0.0040 | 724 | c.-10 others(743): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| EXD3_chr9_137301896_137428162 | 137328653 | T | TACACGGG others(717): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0025 | 1 | 82 | 0.0122 | 724 | c.199 others(743): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137350298 | G | GCTAGATA others(717): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03130.hp1 |
a0008a0027 | a0008c0020a0027c0035 | a0008c0020t0001a0027c0035t0001 | a0008c0020t0001g0005a0027c0035t0001g0040 | 2 | 82 | 0.0244 | 724 | c.149 others(741): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 14/21 | chr9 | TogoVar | ||||||
| FAM86B1_chr8_12177106_12199082 | 12182478 | G | GTCAGCAG others(717): Show |
3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01257.hp1 |
a0012 | a0012c0011 | a0012c0011t0005 | a0012c0011t0005g0023a0012c0011t0005g0024 | 2 | 176 | 0.0114 | 724 | c.*11 others(735): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 7/7 | 1127 | chr8 | TogoVar | |||||
| FLT4_chr5_180596506_180654600 | 180615696 | T | TTCTCCAC others(717): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0296 | 1 | 388 | 0.0026 | 724 | c.321 others(741): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(717): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181a0001c0001t0001g0185a0001c0001t0001g0187others(2): Show | 5 | 230 | 0.0217 | 724 | c.126 others(741): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(717): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0045 | 1 | 230 | 0.0044 | 724 | c.126 others(741): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(717): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 208 | 0.0048 | 724 | c.-97 others(741): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GTPBP6_chrX_299759_323796 | 321891 | C | CAAAAAAA others(717): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 155 | 0.0065 | 724 | c.-31 others(735): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3096 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 323554 | G | GTGTGTGT others(717): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0110 | 1 | 155 | 0.0065 | 724 | c.-47 others(735): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4759 | chrX | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322915 | A | ATATATGG others(717): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 323 | 0.0031 | 724 | c.-21 others(735): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2054 | chr21 | TogoVar | ||||||
| ITGB1BP1_chr2_9398475_9428528 | 9406031 | G | GTGTCACT others(717): Show |
3_prime_UTR_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0110 | 1 | 276 | 0.0036 | 724 | c.*80 others(733): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 802 | chr2 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(717): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 312 | 0.0032 | 724 | c.-41 others(739): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KIF25_chr6_167992671_168050091 | 167997458 | G | GGGGCGGG others(717): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0354 | 1 | 375 | 0.0027 | 724 | c.-20 others(735): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 212 | chr6 | TogoVar | ||||||
| KIF3B_chr20_32272651_32340011 | 32322764 | A | ATATTTAT others(717): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0004 | 1 | 242 | 0.0041 | 724 | c.174 others(743): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(717): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0206 | 1 | 284 | 0.0035 | 724 | c.126 others(741): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 857768 | C | CGGGTGTG others(717): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0048 | a0006c0048t0006 | a0006c0048t0006g0108 | 1 | 294 | 0.0034 | 724 | c.153 others(743): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(717): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0151 | 1 | 278 | 0.0036 | 724 | c.115 others(741): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MICAL3_chr22_17782649_18029561 | 17876784 | G | GGGAGGTT others(717): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0005 | a0005c0067 | a0005c0067t0001 | a0005c0067t0001g0064 | 1 | 274 | 0.0037 | 724 | c.224 others(743): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
| MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(717): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0162 | 1 | 394 | 0.0025 | 724 | c.-8+ others(737): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(717): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0075 | 1 | 326 | 0.0031 | 724 | c.358 others(741): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(717): Show |
intron_variant | MODIFIER | HG01346.hp1 NA18944.hp2 NA18948.hp2 others(1): Show |
a0001a0004a0015 | a0001c0002a0004c0006a0015c0017 | a0001c0002t0001a0001c0002t0002a0004c0006t0004others(1): Show | a0001c0002t0001g0116a0001c0002t0002g0111a0004c0006t0004g0110others(1): Show | 4 | 326 | 0.0123 | 724 | c.358 others(741): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(717): Show |
intron_variant | MODIFIER | HG00621.hp1 NA19084.hp1 |
a0004a0014 | a0004c0006a0014c0015 | a0004c0006t0004a0014c0015t0003 | a0004c0006t0004g0113a0014c0015t0003g0065 | 2 | 326 | 0.0061 | 724 | c.358 others(741): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(717): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0012 | a0002c0012t0005 | a0002c0012t0005g0073 | 1 | 326 | 0.0031 | 724 | c.358 others(741): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(717): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 326 | 0.0031 | 724 | c.358 others(741): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NOTCH1_chr9_136489433_136551048 | 136535807 | A | AGGGGCAA others(717): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0017 | a0001c0017t0003 | a0001c0017t0003g0188 | 1 | 324 | 0.0031 | 724 | c.140 others(741): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535856 | C | CCCGGGGC others(717): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 324 | 0.0031 | 724 | c.140 others(741): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(717): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 436 | 0.0023 | 724 | c.-26 others(735): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(717): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 724 | c.-26 others(735): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(717): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 376 | 0.0027 | 724 | c.*15 others(735): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
| PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(717): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 250 | 0.0040 | 724 | c.309 others(743): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(717): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 220 | 0.0046 | 724 | c.24+ others(741): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 448 | 0.0022 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | ||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 448 | 0.0022 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | ||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 448 | 0.0022 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | ||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050a0001c0001t0002g0107 | 3 | 448 | 0.0067 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | ||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01069.hp1 others(57): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001a0001c0004t0002 | a0001c0001t0002g0006a0001c0001t0002g0011a0001c0001t0002g0023others(28): Show | 60 | 448 | 0.1339 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | ||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(31): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0007a0001c0001t0002g0015a0001c0001t0002g0016others(10): Show | 34 | 448 | 0.0759 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | ||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199a0001c0001t0002g0200 | 2 | 448 | 0.0045 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | ||||||
| SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(717): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0046 | a0001c0046t0022 | a0001c0046t0022g0091 | 1 | 116 | 0.0086 | 724 | c.332 others(743): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SLC25A42_chr19_19058994_19118030 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0267a0001c0002t0006g0268a0001c0002t0006g0269 | 3 | 316 | 0.0095 | 724 | c.*55 others(735): Show |
SLC25A42 | ENSG00000181035.14 | transcript | ENST00000318596.8 | protein_coding | 3418 | chr19 | TogoVar | ||||||
| SLC25A42_chr19_19058994_19118030 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00733.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0229a0001c0001t0001g0231a0001c0001t0002g0008others(18): Show | 22 | 316 | 0.0696 | 724 | c.*55 others(735): Show |
SLC25A42 | ENSG00000181035.14 | transcript | ENST00000318596.8 | protein_coding | 3418 | chr19 | TogoVar | ||||||
| SLC25A42_chr19_19058994_19118030 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 NA19030.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0010a0001c0001t0002g0036a0001c0002t0002g0040 | 3 | 316 | 0.0095 | 724 | c.*55 others(735): Show |
SLC25A42 | ENSG00000181035.14 | transcript | ENST00000318596.8 | protein_coding | 3418 | chr19 | TogoVar | ||||||
| SLC25A42_chr19_19058994_19118030 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 | 1 | 316 | 0.0032 | 724 | c.*55 others(735): Show |
SLC25A42 | ENSG00000181035.14 | transcript | ENST00000318596.8 | protein_coding | 3418 | chr19 | TogoVar | ||||||
| SLC6A12_chr12_185081_219157 | 197198 | C | CATCCATC others(717): Show |
intron_variant | MODIFIER | NA18978.hp1 NA19002.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0328a0002c0003t0003g0350 | 2 | 420 | 0.0048 | 724 | c.107 others(741): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
| SLC6A3_chr5_1387794_1450440 | 1414460 | G | GGAGAAGG others(717): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0024 | 1 | 373 | 0.0027 | 724 | c.115 others(741): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1221594 | C | CTGCCTCT others(717): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 190 | 0.0053 | 724 | c.719 others(743): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |