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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXD3_chr9_137301896_137428162 | 137322959 | C | CTCTGCCG others(209): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 1 | 82 | 0.0122 | 216 | c.218 others(233): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137323139 | A | ATCTGCCG others(209): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0022 | a0022c0026 | a0022c0026t0001 | a0022c0026t0001g0064 | 1 | 82 | 0.0122 | 216 | c.218 others(233): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137323139 | A | ATCTGCCG others(209): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0014 | 1 | 82 | 0.0122 | 216 | c.218 others(233): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137323283 | A | ATCTGCCG others(209): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18522.hp1 |
a0010a0023 | a0010c0011a0023c0031 | a0010c0011t0001a0023c0031t0001 | a0010c0011t0001g0006 a0023c0031t0001g0015 |
2 | 82 | 0.0244 | 216 | c.218 others(233): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137323319 | A | ATCTGCCG others(209): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0016 | a0016c0021 | a0016c0021t0001 | a0016c0021t0001g0038 | 1 | 82 | 0.0122 | 216 | c.218 others(233): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137323355 | C | CTCTGCCG others(209): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0046 | 1 | 82 | 0.0122 | 216 | c.218 others(233): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137329795 | G | GAGCTACA others(209): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02683.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0061 a0002c0002t0001g0062 |
2 | 82 | 0.0244 | 216 | c.199 others(235): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FAM13A_chr4_88720960_89062185 | 88945783 | G | GTATATAT others(209): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0194 | 1 | 208 | 0.0048 | 216 | c.606 others(233): Show |
FAM13A | ENSG00000138640.15 | transcript | ENST00000264344.10 | protein_coding | 4/23 | chr4 | TogoVar | |||||||
FAM13A_chr4_88720960_89062185 | 89042101 | C | CAAGGTGA others(209): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01261.hp2 HG02040.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0022others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0004others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0028 others(10): Show |
13 | 208 | 0.0625 | 216 | c.28- others(233): Show |
FAM13A | ENSG00000138640.15 | transcript | ENST00000264344.10 | protein_coding | 1/23 | chr4 | TogoVar | |||||||
FAR2_chr12_29144278_29340616 | 29253280 | G | GATATCTA others(209): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0189 | 1 | 326 | 0.0031 | 216 | c.-38 others(235): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBXO11_chr2_47801920_47911498 | 47900577 | C | CACGTGTG others(209): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 a0001c0001t0001g0286 |
2 | 318 | 0.0063 | 216 | c.232 others(233): Show |
FBXO11 | ENSG00000138081.22 | transcript | ENST00000403359.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
FER1L6_chr8_123846987_124125061 | 123856004 | A | ATATGAGA others(209): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0020 | a0001c0020t0004 | a0001c0020t0004g0086 | 1 | 196 | 0.0051 | 216 | c.-8+ others(231): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FER1L6_chr8_123846987_124125061 | 123856031 | A | ATATGAGA others(209): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG00741.hp1 others(11): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0003others(9): Show | a0001c0001t0001g0051 a0001c0001t0004g0067 a0001c0005t0003g0073 others(11): Show |
14 | 196 | 0.0714 | 216 | c.-8+ others(231): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FER1L6_chr8_123846987_124125061 | 123856031 | A | ATATGAGA others(209): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01884.hp1 HG02056.hp1 others(6): Show |
a0001a0002a0024 | a0001c0002a0001c0004a0001c0006others(5): Show | a0001c0002t0001a0001c0004t0002a0001c0006t0002others(5): Show | a0001c0002t0001g0173 a0001c0004t0002g0079 a0001c0006t0002g0175 others(6): Show |
9 | 196 | 0.0459 | 216 | c.-8+ others(231): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FER1L6_chr8_123846987_124125061 | 123856189 | A | ATGTGTAT others(209): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG02976.hp1 |
a0002a0014 | a0002c0012a0002c0018a0014c0048 | a0002c0012t0002a0002c0018t0001a0014c0048t0004 | a0002c0012t0002g0060 a0002c0018t0001g0101 a0014c0048t0004g0083 |
3 | 196 | 0.0153 | 216 | c.-8+ others(231): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FIGN_chr2_163597611_163741008 | 163660791 | G | GTATACAC others(209): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0242 | 1 | 266 | 0.0038 | 216 | c.26- others(233): Show |
FIGN | ENSG00000182263.14 | transcript | ENST00000333129.4 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
FOLR1_chr11_72187140_72201299 | 72201183 | C | CGTACACG others(209): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 412 | 0.0024 | 216 | c.*50 others(227): Show |
FOLR1 | ENSG00000110195.14 | transcript | ENST00000393676.5 | protein_coding | 4885 | chr11 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82538068 | C | CAAAAAAT others(209): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0008 | 1 | 308 | 0.0033 | 216 | c.419 others(235): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89362210 | G | GCACCACC others(209): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0033a0001c0001t0049 | a0001c0001t0016g0083 a0001c0001t0033g0008 a0001c0001t0049g0230 |
3 | 230 | 0.0130 | 216 | c.544 others(235): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FRMD1_chr6_168048095_168084212 | 168078540 | G | GGCCCTGC others(209): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0070 | 1 | 402 | 0.0025 | 216 | c.213 others(231): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
FTHL17_chrX_31066233_31077041 | 31067374 | A | ACACACGT others(209): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 336 | 0.0030 | 216 | c.*40 others(227): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 3858 | chrX | TogoVar | |||||||
GABRG1_chr4_46030769_46129054 | 46117780 | A | ATGTATAC others(209): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 308 | 0.0033 | 216 | c.104 others(233): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
GALNS_chr16_88808734_88861947 | 88831583 | C | CGAGCACG others(209): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 404 | 0.0025 | 216 | c.100 others(233): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154298587 | T | TTTATATA others(209): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0200 | 1 | 214 | 0.0047 | 216 | c.976 others(233): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154298694 | C | CAATGTAT others(209): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 214 | 0.0047 | 216 | c.976 others(233): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GASK1A_chr3_42974311_43062715 | 43012491 | G | GGCTGTGT others(209): Show |
intron_variant | MODIFIER | NA18906.hp1 NA20129.hp2 |
a0002a0016 | a0002c0006a0016c0024 | a0002c0006t0002a0016c0024t0002 | a0002c0006t0002g0164 a0016c0024t0002g0238 |
2 | 342 | 0.0059 | 216 | c.4-1 others(231): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GASK1A_chr3_42974311_43062715 | 43012538 | C | CTATGTGA others(209): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0013 | a0013c0026 | a0013c0026t0011 | a0013c0026t0011g0311 | 1 | 342 | 0.0029 | 216 | c.4-1 others(231): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GASK1A_chr3_42974311_43062715 | 43012605 | G | GTGAAGTC others(209): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp1 others(62): Show |
a0002a0004a0010 | a0002c0002a0002c0006a0002c0007others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(6): Show | a0002c0002t0001g0005 a0002c0002t0002g0025 a0002c0002t0003g0006 others(60): Show |
65 | 342 | 0.1901 | 216 | c.4-1 others(231): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30663964 | T | TATATATA others(209): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | 286 | 0.0070 | 216 | c.79- others(231): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308223 | T | TCACCATC others(209): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0374 | 1 | 422 | 0.0024 | 216 | c.961 others(233): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344478 | C | CCGTGAGA others(209): Show |
downstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 395 | 0.0025 | 216 | c.*69 others(227): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4884 | chr16 | TogoVar | |||||||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(209): Show |
disruptive_inframe_insertion | MODERATE | NA19076.hp1 | a0044 | a0044c0043 | a0044c0043t0009 | a0044c0043t0009g0085 | 1 | 396 | 0.0025 | 216 | c.215 others(225): Show |
p.Arg others(229): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | |||
GPC5_chr13_91393621_92872237 | 91571891 | G | GTGTGTGT others(209): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 42 | 0.0238 | 216 | c.326 others(237): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPR161_chr1_168074542_168141930 | 168119277 | T | TATACGTA others(209): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0224 a0001c0002t0016g0226 a0001c0002t0016g0227 others(1): Show |
4 | 340 | 0.0118 | 216 | c.-44 others(235): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
GPR161_chr1_168074542_168141930 | 168119277 | T | TATACGTA others(209): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0225 | 1 | 340 | 0.0029 | 216 | c.-44 others(235): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
GRHL1_chr2_9946693_10007277 | 9998583 | T | TACACACA others(209): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 | 1 | 418 | 0.0024 | 216 | c.167 others(233): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2961226 | T | TGTTAGTA others(209): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01516.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0141 a0001c0001t0001g0166 a0004c0004t0001g0105 others(2): Show |
5 | 268 | 0.0187 | 216 | c.-28 others(227): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2344 | chr4 | TogoVar | |||||||
GRK4_chr4_2958571_3045760 | 2961226 | T | TGTTAGTA others(209): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG03195.hp1 |
a0001a0016 | a0001c0001a0016c0019 | a0001c0001t0001a0016c0019t0001 | a0001c0001t0001g0058 a0001c0001t0001g0120 a0016c0019t0001g0057 |
3 | 268 | 0.0112 | 216 | c.-28 others(227): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2344 | chr4 | TogoVar | |||||||
GRK4_chr4_2958571_3045760 | 2961226 | T | TGTTAGTA others(209): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 268 | 0.0037 | 216 | c.-28 others(227): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2344 | chr4 | TogoVar | |||||||
GRM5_chr11_88499642_89070982 | 88687564 | T | TATATATA others(209): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 184 | 0.0054 | 216 | c.912 others(235): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059855 | C | CATAATAT others(209): Show |
intron_variant | MODIFIER | NA18963.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0189 |
2 | 360 | 0.0056 | 216 | c.226 others(235): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88379901 | A | AATATATA others(209): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 174 | 0.0058 | 216 | c.199 others(231): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HMGN1_chr21_39337315_39354088 | 39337374 | A | ATATATAT others(209): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0041 | 1 | 414 | 0.0024 | 216 | c.*57 others(227): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 4940 | chr21 | TogoVar | |||||||
HTR2C_chrX_114579086_114915061 | 114807369 | C | CTATACCA others(209): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0142 | 1 | 176 | 0.0057 | 216 | c.350 others(235): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114807369 | C | CTATACCA others(209): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 176 | 0.0057 | 216 | c.350 others(235): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114807369 | C | CTATACCA others(209): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0163 a0002c0002t0002g0038 |
2 | 176 | 0.0114 | 216 | c.350 others(235): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IGFN1_chr1_201185824_201233952 | 201210965 | A | AGAAATGT others(209): Show |
conservative_inframe_insertion | MODERATE | HG02135.hp1 | a0044 | a0044c0087 | a0044c0087t0002 | a0044c0087t0002g0304 | 1 | 428 | 0.0023 | 216 | c.607 others(225): Show |
p.Met others(231): Show |
IGFN1 | ENSG00000163395.17 | transcript | ENST00000335211.9 | protein_coding | 12/24 | 6210/11811 | 6079/11127 | 2027/3708 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
IGFN1_chr1_201185824_201233952 | 201210965 | A | AGAAATGT others(209): Show |
conservative_inframe_insertion | MODERATE | HG01099.hp2 HG01192.hp2 HG01361.hp2 others(20): Show |
a0008a0015a0069others(2): Show | a0008c0010a0008c0024a0008c0088others(7): Show | a0008c0010t0002a0008c0024t0003a0008c0088t0002others(7): Show | a0008c0010t0002g0017 a0008c0010t0002g0035 a0008c0010t0002g0042 others(13): Show |
23 | 428 | 0.0537 | 216 | c.607 others(225): Show |
p.Met others(231): Show |
IGFN1 | ENSG00000163395.17 | transcript | ENST00000335211.9 | protein_coding | 12/24 | 6210/11811 | 6079/11127 | 2027/3708 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
IGFN1_chr1_201185824_201233952 | 201210972 | C | CGGTCAAT others(209): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(262): Show |
a0002a0003a0004others(49): Show | a0002c0002a0002c0003a0002c0080others(103): Show | a0002c0002t0001a0002c0002t0003a0002c0003t0001others(123): Show | a0002c0002t0001g0230 a0002c0002t0001g0232 a0002c0002t0001g0274 others(218): Show |
265 | 428 | 0.6192 | 216 | c.612 others(225): Show |
p.Pro others(231): Show |
IGFN1 | ENSG00000163395.17 | transcript | ENST00000335211.9 | protein_coding | 12/24 | 6255/11811 | 6124/11127 | 2042/3708 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
IGFN1_chr1_201185824_201233952 | 201210972 | C | CGGTCAAT others(209): Show |
conservative_inframe_insertion | MODERATE | HG01175.hp1 | a0037 | a0037c0148 | a0037c0148t0006 | a0037c0148t0006g0028 | 1 | 428 | 0.0023 | 216 | c.612 others(225): Show |
p.Pro others(231): Show |
IGFN1 | ENSG00000163395.17 | transcript | ENST00000335211.9 | protein_coding | 12/24 | 6255/11811 | 6124/11127 | 2042/3708 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |