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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT17_chr7_71127144_71718599 | 71329923 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0054 | 1 | 76 | 0.0132 | -26 | c.239 others(43): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT1_chr18_35576740_35716834 | 35606821 | TTGTGTGT others(19): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0012others(1): Show | a0001c0001t0004g0001 a0001c0001t0004g0122 a0001c0001t0004g0123 others(29): Show |
36 | 84 | 0.4286 | -26 | c.-10 others(47): Show |
GALNT1 | ENSG00000141429.14 | transcript | ENST00000269195.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALNT7_chr4_173163811_173328967 | 173167583 | CAAAAAAA others(19): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(14): Show |
17 | 23 | 0.7391 | -26 | c.-12 others(37): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1227 | chr4 | TogoVar | |||||||
GALNTL6_chr4_171808404_173046559 | 171846887 | CATAATTA others(19): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02015.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0029 others(23): Show |
26 | 38 | 0.6842 | -26 | c.138 others(45): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 171846937 | CATATAAT others(19): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 40 | 0.0250 | -26 | c.138 others(45): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172034395 | CGTGCGTG others(19): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02717.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0029 others(5): Show |
8 | 16 | 0.5000 | -26 | c.139 others(47): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172528319 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 10 | 0.1000 | -26 | c.553 others(47): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 173044548 | TTAATTTT others(19): Show |
T | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0024 | 1 | 40 | 0.0250 | -26 | c.*44 others(37): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2990 | chr4 | TogoVar | |||||||
GALT_chr9_34641675_34656035 | 34644300 | ATTATATA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG02258.hp2 HG02738.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0003 a0002c0004t0001g0006 a0002c0004t0001g0020 |
10 | 333 | 0.0300 | -26 | c.-24 others(37): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 2374 | chr9 | TogoVar | |||||||
GANC_chr15_42268201_42358666 | 42339305 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0008 | a0003c0008t0013 | a0003c0008t0013g0137 | 1 | 38 | 0.0263 | -26 | c.184 others(43): Show |
GANC | ENSG00000214013.10 | transcript | ENST00000318010.13 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115716717 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03139.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0040 a0001c0001t0001g0298 others(1): Show |
4 | 192 | 0.0208 | -26 | c.629 others(43): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115716749 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 350 | 0.0029 | -26 | c.629 others(43): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAREM1_chr18_32258522_32475882 | 32364010 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0012 | a0012c0029 | a0012c0029t0004 | a0012c0029t0004g0087 | 1 | 190 | 0.0053 | -26 | c.262 others(45): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
GARIN2_chr14_67184440_67228940 | 67193165 | CATCTATA others(19): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01175.hp2 HG01361.hp2 others(6): Show |
a0001 | a0001c0002a0001c0007a0001c0009 | a0001c0002t0001a0001c0007t0001a0001c0009t0001 | a0001c0002t0001g0041 a0001c0002t0001g0128 a0001c0007t0001g0024 others(5): Show |
9 | 323 | 0.0279 | -26 | c.-11 others(45): Show |
GARIN2 | ENSG00000172717.17 | transcript | ENST00000696955.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GARIN2_chr14_67184440_67228940 | 67193290 | ACATCTAT others(19): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(124): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0161 a0001c0001t0001g0162 others(89): Show |
127 | 328 | 0.3872 | -26 | c.-11 others(45): Show |
GARIN2 | ENSG00000172717.17 | transcript | ENST00000696955.1 | protein_coding | 1/7 | chr14 | TogoVar | |||||||
GARIN5A_chr19_50461788_50481848 | 50471707 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 409 | 0.0024 | -26 | c.539 others(43): Show |
GARIN5A | ENSG00000142530.11 | transcript | ENST00000600100.6 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
GARIN5A_chr19_50461788_50481848 | 50472081 | TGTGTGTA others(19): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 409 | 0.0024 | -26 | c.539 others(43): Show |
GARIN5A | ENSG00000142530.11 | transcript | ENST00000600100.6 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
GARRE1_chr19_34249554_34360566 | 34290874 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0154 | 1 | 3 | 0.3333 | -26 | c.-79 others(45): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 9927290 | TACACACA others(19): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02630.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0088 a0001c0001t0003g0121 a0001c0001t0007g0003 |
3 | 57 | 0.0526 | -26 | c.886 others(41): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 9/13 | chr17 | TogoVar | |||||||
GATA2_chr3_128474427_128493530 | 128491884 | CGGCCGGG others(19): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 432 | 0.0023 | -26 | c.-38 others(37): Show |
GATA2 | ENSG00000179348.13 | transcript | ENST00000487848.6 | protein_coding | 3355 | chr3 | TogoVar | |||||||
GATA6_chr18_22164589_22207528 | 22203096 | AGAGTGAA others(19): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 284 | 0.0035 | -26 | c.*22 others(37): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 569 | chr18 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153898319 | AAAAAGAA others(19): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0106 others(6): Show |
9 | 348 | 0.0259 | -26 | c.-2+ others(43): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATB_chr4_151665504_151766007 | 151668842 | AGGCAGAG others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00642.hp1 others(38): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0145 a0001c0009t0001g0186 a0002c0002t0001g0002 others(33): Show |
41 | 318 | 0.1289 | -26 | c.*23 others(37): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 1661 | chr4 | TogoVar | |||||||
GBA2_chr9_35731866_35754228 | 35749035 | CAGGCACC others(19): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0038 | 1 | 418 | 0.0024 | -26 | c.-35 others(35): Show |
GBA2 | ENSG00000070610.14 | transcript | ENST00000378103.7 | protein_coding | 1/17 | 332 | chr9 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81628742 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
a0001a0009 | a0001c0004a0009c0011 | a0001c0004t0007a0001c0004t0008a0009c0011t0006 | a0001c0004t0007g0297 a0001c0004t0007g0298 a0001c0004t0007g0299 others(6): Show |
9 | 39 | 0.2308 | -26 | c.992 others(45): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
GBE1_chr3_81484703_81766645 | 81702098 | AGAGAGTG others(19): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 299 | 0.0033 | -26 | c.313 others(43): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
GCHFR_chr15_40759068_40772708 | 40760870 | ACTAAAAA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -26 | c.-33 others(37): Show |
GCHFR | ENSG00000137880.6 | transcript | ENST00000260447.6 | protein_coding | 3197 | chr15 | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10606603 | CTTCCATT others(19): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01099.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0021 a0001c0001t0001g0083 a0001c0001t0001g0090 others(6): Show |
9 | 133 | 0.0677 | -26 | c.926 others(45): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10606603 | CTTCCATT others(19): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01099.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0077 others(6): Show |
9 | 144 | 0.0625 | -26 | c.920 others(45): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT4_chr5_75020346_75057558 | 75041559 | CCTCTCAC others(19): Show |
C | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0187 | 1 | 380 | 0.0026 | -26 | c.-2+ others(41): Show |
GCNT4 | ENSG00000176928.7 | transcript | ENST00000652361.2 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
GC_chr4_71736697_71789079 | 71746284 | AAATCTTG others(19): Show |
A | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0218 | 1 | 386 | 0.0026 | -26 | c.139 others(42): Show |
GC | ENSG00000145321.13 | transcript | ENST00000273951.13 | protein_coding | 11/12 | chr4 | TogoVar | |||||||
GDF2_chr10_47317454_47332588 | 47328472 | GTGAGTGA others(19): Show |
G | downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 421 | 0.0024 | -26 | c.*26 others(37): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 885 | chr10 | TogoVar | |||||||
GDPGP1_chr15_90229209_90250811 | 90242903 | ATGGTCTC others(19): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0011 | 1 | 436 | 0.0023 | -26 | c.*85 others(35): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 4/4 | 857 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GEN1_chr2_17749138_17793946 | 17778297 | TGTACATA others(19): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG03225.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 3 | 318 | 0.0094 | -26 | c.126 others(43): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GEN1_chr2_17749138_17793946 | 17778310 | ATATACAC others(19): Show |
A | intron_variant | MODIFIER | HG01069.hp2 NA18980.hp2 |
a0001a0013 | a0001c0001a0013c0015 | a0001c0001t0001a0013c0015t0037 | a0001c0001t0001g0109 a0013c0015t0037g0100 |
2 | 318 | 0.0063 | -26 | c.126 others(43): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116057990 | TTGTGTGT others(19): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0169 | 1 | 62 | 0.0161 | -26 | c.*63 others(37): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 11/11 | 6382 | chr10 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21763950 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0225 | 1 | 7 | 0.1429 | -26 | c.439 others(45): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GGA2_chr16_23458542_23515494 | 23510906 | CGTGTGTG others(19): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02809.hp2 NA18522.hp1 |
a0002a0004 | a0002c0002a0004c0007 | a0002c0002t0042a0002c0002t0043a0004c0007t0044 | a0002c0002t0042g0019 a0002c0002t0043g0018 a0004c0007t0044g0059 |
3 | 30 | 0.1000 | -26 | c.-52 others(35): Show |
GGA2 | ENSG00000103365.15 | transcript | ENST00000309859.8 | protein_coding | 413 | chr16 | TogoVar | |||||||
GGA3_chr17_75231599_75266606 | 75248790 | AAAAACAA others(19): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG02486.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0036 a0001c0002t0001g0242 a0001c0002t0001g0248 others(2): Show |
6 | 362 | 0.0166 | -26 | c.41- others(41): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24605083 | GTATATTA others(19): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(112): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(106): Show |
115 | 397 | 0.2897 | -26 | c.-42 others(45): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605608 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 424 | 0.0024 | -26 | c.-42 others(45): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GH1_chr17_63912203_63923839 | 63912803 | TTCTTTCT others(19): Show |
T | downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 417 | 0.0024 | -26 | c.*44 others(37): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4399 | chr17 | TogoVar | |||||||
GH2_chr17_63875215_63886944 | 63877165 | CCATGTCT others(19): Show |
C | downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | -26 | c.*31 others(37): Show |
GH2 | ENSG00000136487.18 | transcript | ENST00000423893.7 | protein_coding | 3049 | chr17 | TogoVar | |||||||
GH2_chr17_63875215_63886944 | 63886650 | CTCTTTTC others(19): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(295): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(11): Show |
298 | 421 | 0.7078 | -26 | c.-48 others(37): Show |
GH2 | ENSG00000136487.18 | transcript | ENST00000423893.7 | protein_coding | 4707 | chr17 | TogoVar | |||||||
GIGYF2_chr2_232692331_232865605 | 232836263 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00673.hp1 others(26): Show |
a0001a0010a0011 | a0001c0003a0010c0013a0011c0019 | a0001c0003t0003a0001c0003t0006a0010c0013t0003others(1): Show | a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0013 others(26): Show |
29 | 293 | 0.0990 | -26 | c.276 others(45): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232836305 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01255.hp2 HG02683.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0029a0001c0002t0005others(2): Show | a0001c0001t0004g0039 a0001c0001t0004g0091 a0001c0001t0029g0075 others(3): Show |
6 | 352 | 0.0170 | -26 | c.276 others(45): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIMAP4_chr7_150562390_150578953 | 150564854 | CATGTAGT others(19): Show |
C | upstream_gene_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 452 | 0.0022 | -26 | c.-25 others(37): Show |
GIMAP4 | ENSG00000133574.10 | transcript | ENST00000255945.4 | protein_coding | 2535 | chr7 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562292 | ATATATAT others(19): Show |
A | upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 377 | 0.0027 | -26 | c.-41 others(37): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4082 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149570134 | TTTTATAT others(19): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 334 | 0.0030 | -26 | c.121 others(43): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85673531 | CATTAAAA others(19): Show |
C | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0079 | 1 | 468 | 0.0021 | -26 | c.*46 others(37): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2666 | chr16 | TogoVar |