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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(714): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 135 | 0.0074 | 721 | c.*12 others(732): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914229 | G | GGTGAGTG others(714): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 88 | 0.0114 | 721 | c.*35 others(732): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2544 | chr9 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(714): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0048 | a0001c0001t0038g0218 a0001c0001t0048g0264 |
2 | 4 | 0.5000 | 721 | c.597 others(738): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TMEM132C_chr12_128262170_128712911 | 128648280 | A | ATGAGTGT others(714): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 |
a0010 | a0010c0027a0010c0069 | a0010c0027t0001a0010c0069t0001 | a0010c0027t0001g0148 a0010c0069t0001g0020 |
2 | 168 | 0.0119 | 721 | c.130 others(742): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129538900 | G | GGACCCCT others(714): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0070 | 1 | 49 | 0.0204 | 721 | c.969 others(738): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129538900 | G | GGACCCCT others(714): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 49 | 0.0204 | 721 | c.969 others(738): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129538900 | G | GGACCCCT others(714): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG02280.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0014a0001c0002t0004a0001c0007t0019others(1): Show | a0001c0001t0014g0004 a0001c0002t0004g0013 a0001c0007t0019g0039 others(1): Show |
4 | 52 | 0.0769 | 721 | c.969 others(738): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129538900 | G | GGACCCCT others(714): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02109.hp1 HG02109.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0014 a0001c0001t0003g0034 a0001c0001t0005g0038 others(8): Show |
11 | 59 | 0.1864 | 721 | c.969 others(738): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129538900 | G | GGACCCCT others(714): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01192.hp2 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0032 a0001c0001t0002g0059 a0001c0001t0003g0084 |
3 | 51 | 0.0588 | 721 | c.969 others(738): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129538940 | T | TGACCCCT others(714): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0081 | 1 | 65 | 0.0154 | 721 | c.969 others(738): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129538940 | T | TGACCCCT others(714): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01074.hp2 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0009 a0001c0001t0003g0085 a0001c0001t0005g0031 others(10): Show |
13 | 77 | 0.1688 | 721 | c.969 others(738): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129538940 | T | TGACCCCT others(714): Show |
intron_variant | MODIFIER | HG03041.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004 | a0001c0001t0003g0055 a0001c0002t0004g0011 |
2 | 66 | 0.0303 | 721 | c.969 others(738): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(714): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 212 | 0.0047 | 721 | c.*34 others(732): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | |||||||
TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(714): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 a0001c0001t0003g0175 |
2 | 213 | 0.0094 | 721 | c.*34 others(732): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | |||||||
TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(714): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 212 | 0.0047 | 721 | c.*34 others(732): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | |||||||
TMPRSS2_chr21_41459305_41513158 | 41474326 | A | AGGGGGTG others(714): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0041 | 1 | 372 | 0.0027 | 721 | c.728 others(736): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(714): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0004 | a0004c0014 | a0004c0014t0003 | a0004c0014t0003g0044 | 1 | 10 | 0.1000 | 721 | c.-25 others(740): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418765 | T | TCCCCTTC others(714): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0112 | 1 | 111 | 0.0090 | 721 | c.215 others(738): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
TOP1MT_chr8_143304324_143339880 | 143321834 | A | ACACGCCA others(714): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0119 | 1 | 230 | 0.0043 | 721 | c.961 others(736): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
TRAPPC12_chr2_3374694_3484565 | 3438060 | A | ATCACCCC others(714): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0209 | 1 | 159 | 0.0063 | 721 | c.141 others(740): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | chr2 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(714): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0199 | 1 | 99 | 0.0101 | 721 | c.392 others(738): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7678857 | T | TATATTTA others(714): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201 | 1 | 247 | 0.0040 | 721 | c.82+ others(736): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7678884 | T | TATATTTA others(714): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0199 | 1 | 246 | 0.0041 | 721 | c.82+ others(736): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533065 | C | CCCTCCCT others(714): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0023 | 1 | 68 | 0.0147 | 721 | c.*67 others(730): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 552 | chrX | TogoVar | |||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(714): Show |
downstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0084 | 1 | 119 | 0.0084 | 721 | c.*51 others(732): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(714): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 119 | 0.0084 | 721 | c.*51 others(732): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(714): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01109.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0015a0001c0001t0017others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0032 others(6): Show |
19 | 137 | 0.1387 | 721 | c.*51 others(732): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(714): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0071 |
2 | 120 | 0.0167 | 721 | c.*51 others(732): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(714): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 119 | 0.0084 | 721 | c.*51 others(732): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(714): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 119 | 0.0084 | 721 | c.*51 others(732): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(714): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 100 | 0.0100 | 721 | c.-10 others(738): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(714): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0293 | 1 | 44 | 0.0227 | 721 | c.-1- others(738): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(714): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 9 | 0.1111 | 721 | c.4-1 others(734): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(715): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02559.hp1 HG02723.hp1 others(1): Show |
a0001a0002a0012 | a0001c0049a0001c0068a0002c0061others(1): Show | a0001c0049t0003a0001c0068t0003a0002c0061t0003others(1): Show | a0001c0049t0003g0067 a0001c0068t0003g0007 a0002c0061t0003g0058 others(1): Show |
4 | 15 | 0.2667 | 722 | c.387 others(741): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(715): Show |
intron_variant | MODIFIER | HG01981.hp1 NA20300.hp1 |
a0001 | a0001c0054a0001c0066 | a0001c0054t0003a0001c0066t0003 | a0001c0054t0003g0131 a0001c0066t0003g0033 |
2 | 13 | 0.1538 | 722 | c.387 others(741): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1159250 | G | GGGAGAAG others(715): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0332 | 1 | 269 | 0.0037 | 722 | c.61+ others(739): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179278050 | C | CCCCCCCG others(715): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0010 | a0010c0085 | a0010c0085t0002 | a0010c0085t0002g0202 | 1 | 147 | 0.0068 | 722 | c.535 others(739): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1453971 | G | GGTGGGAG others(715): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0162 | 1 | 183 | 0.0055 | 722 | c.-11 others(733): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1063 | chrX | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72209170 | T | TTCCTTCC others(715): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 127 | 0.0079 | 722 | c.244 others(741): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(715): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 4 | 0.2500 | 722 | c.712 others(739): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(715): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0070 | 1 | 4 | 0.2500 | 722 | c.342 others(741): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 147062143 | A | AAGAAAAA others(715): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02630.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0002t0002a0001c0003t0004 | a0001c0001t0007g0020 a0001c0002t0002g0013 a0001c0003t0004g0029 |
3 | 40 | 0.0750 | 722 | c.550 others(741): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255884 | A | AAGGGGGA others(715): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0024 | a0002c0024t0002 | a0002c0024t0002g0279 | 1 | 216 | 0.0046 | 722 | c.85- others(739): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(715): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 302 | 0.0033 | 722 | c.513 others(739): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(715): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0050 | a0050c0068 | a0050c0068t0001 | a0050c0068t0001g0197 | 1 | 224 | 0.0045 | 722 | c.118 others(741): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89638734 | G | GCACCCCT others(715): Show |
downstream_gene_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0154 | 1 | 247 | 0.0040 | 722 | c.*51 others(731): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 302 | chr16 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 32777984 | A | ATATAATA others(715): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0021 | a0021c0074 | a0021c0074t0012 | a0021c0074t0012g0116 | 1 | 190 | 0.0053 | 722 | c.413 others(741): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(715): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01975.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0172 a0001c0001t0001g0174 others(1): Show |
4 | 7 | 0.5714 | 722 | c.126 others(739): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113841676 | T | TTCCATAC others(715): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0004 | 1 | 97 | 0.0103 | 722 | c.344 others(739): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53073903 | A | ATATAAAT others(715): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0064 | 1 | 133 | 0.0075 | 722 | c.-97 others(739): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar |