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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT9_chr12_132191372_132334589 | 132192694 | CCCTCCCT others(16): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02257.hp1 others(6): Show |
a0001 | a0001c0014a0001c0015a0001c0019others(3): Show | a0001c0014t0003a0001c0015t0001a0001c0019t0003others(3): Show | a0001c0014t0003g0074a0001c0014t0003g0146a0001c0014t0003g0153others(6): Show | 9 | 183 | 0.0492 | -23 | c.*43 others(34): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 3677 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132321202 | CAGAGTCG others(16): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(113): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(33): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0017others(113): Show | 116 | 183 | 0.6339 | -23 | c.238 others(40): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 171835433 | TATAGTTT others(16): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 40 | 0.0250 | -23 | c.138 others(42): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172405427 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 40 | 0.0250 | -23 | c.553 others(42): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172759799 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012 | a0001c0001t0011g0031a0001c0001t0012g0027 | 2 | 40 | 0.0500 | -23 | c.554 others(42): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GAMT_chr19_1392026_1406542 | 1394518 | CCCTCCCT others(16): Show |
C | downstream_gene_variant | MODIFIER | NA19043.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0018 | 2 | 402 | 0.0050 | -23 | c.*28 others(34): Show |
GAMT | ENSG00000130005.13 | transcript | ENST00000252288.8 | protein_coding | 2507 | chr19 | TogoVar | ||||||
GAMT_chr19_1392026_1406542 | 1394531 | CGGACCGC others(16): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02818.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0002g0017a0001c0001t0002g0022others(1): Show | 7 | 402 | 0.0174 | -23 | c.*28 others(34): Show |
GAMT | ENSG00000130005.13 | transcript | ENST00000252288.8 | protein_coding | 2494 | chr19 | TogoVar | ||||||
GAMT_chr19_1392026_1406542 | 1394567 | TCCCTCCC others(16): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG03130.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0047 | 5 | 402 | 0.0124 | -23 | c.*27 others(34): Show |
GAMT | ENSG00000130005.13 | transcript | ENST00000252288.8 | protein_coding | 2458 | chr19 | TogoVar | ||||||
GAMT_chr19_1392026_1406542 | 1394661 | CCTCCCTC others(16): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01109.hp2 HG01884.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0020others(2): Show | 18 | 402 | 0.0448 | -23 | c.*26 others(34): Show |
GAMT | ENSG00000130005.13 | transcript | ENST00000252288.8 | protein_coding | 2364 | chr19 | TogoVar | ||||||
GAMT_chr19_1392026_1406542 | 1394684 | GCTCCCTC others(16): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01891.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0018 | 9 | 402 | 0.0224 | -23 | c.*26 others(34): Show |
GAMT | ENSG00000130005.13 | transcript | ENST00000252288.8 | protein_coding | 2341 | chr19 | TogoVar | ||||||
GAN_chr16_81309962_81395809 | 81385214 | TTGACTTA others(16): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0132 | a0001c0002t0132g0341 | 1 | 384 | 0.0026 | -23 | c.*76 others(34): Show |
GAN | ENSG00000261609.8 | transcript | ENST00000648994.2 | protein_coding | 11/11 | 7642 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
GAP43_chr3_115618510_115726483 | 115698027 | GTATATAA others(16): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 352 | 0.0028 | -23 | c.628 others(42): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125300039 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00741.hp2 NA18961.hp1 NA18990.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0329a0001c0001t0005g0333a0001c0001t0005g0336others(2): Show | 5 | 340 | 0.0147 | -23 | c.185 others(38): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | chr9 | TogoVar | ||||||
GARRE1_chr19_34249554_34360566 | 34290874 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00597.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0002a0001c0002t0013others(3): Show | a0001c0001t0001g0159a0001c0001t0001g0254a0001c0001t0001g0282others(39): Show | 42 | 326 | 0.1288 | -23 | c.-79 others(42): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GAS2_chr11_22661611_22818001 | 22686553 | TAAAAAAA others(16): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02970.hp1 HG03710.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(1): Show | a0001c0002t0002g0222a0001c0002t0004g0130a0001c0002t0006g0101others(2): Show | 5 | 272 | 0.0184 | -23 | c.267 others(38): Show |
GAS2 | ENSG00000148935.12 | transcript | ENST00000454584.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GAS7_chr17_9905606_10203606 | 10117076 | ACAGGGCT others(16): Show |
A | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 218 | 0.0046 | -23 | c.183 others(42): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 10159074 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0032 | 1 | 218 | 0.0046 | -23 | c.183 others(42): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
GASK1A_chr3_42974311_43062715 | 43011779 | TCACAGGA others(16): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02615.hp1 others(3): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0001 | a0002c0002t0002g0206a0002c0002t0002g0208a0002c0002t0002g0237others(3): Show | 6 | 342 | 0.0175 | -23 | c.4-2 others(38): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GASK1A_chr3_42974311_43062715 | 43013143 | AGTCACAG others(16): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 |
a0002a0004 | a0002c0007a0004c0015 | a0002c0007t0002a0004c0015t0001 | a0002c0007t0002g0279a0004c0015t0001g0278 | 2 | 342 | 0.0059 | -23 | c.4-1 others(38): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GASK1A_chr3_42974311_43062715 | 43014027 | AGTGTGAA others(16): Show |
A | intron_variant | MODIFIER | HG02683.hp1 NA20805.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0197a0003c0003t0002g0242 | 2 | 342 | 0.0059 | -23 | c.4-1 others(38): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GASK1A_chr3_42974311_43062715 | 43015936 | AAAGCCAC others(16): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01168.hp2 HG02809.hp1 others(6): Show |
a0001a0002a0004 | a0001c0005a0002c0002a0002c0006others(2): Show | a0001c0005t0001a0002c0002t0003a0002c0006t0002others(2): Show | a0001c0005t0001g0048a0002c0002t0003g0060a0002c0002t0003g0090others(6): Show | 9 | 342 | 0.0263 | -23 | c.4-1 others(38): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GASK1A_chr3_42974311_43062715 | 43016901 | TGAAGGGG others(16): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(37): Show |
a0002a0004a0008 | a0002c0002a0004c0004a0004c0016others(1): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(7): Show | a0002c0002t0002g0015a0002c0002t0002g0170a0002c0002t0002g0171others(37): Show | 40 | 342 | 0.1170 | -23 | c.4-1 others(38): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GASK1A_chr3_42974311_43062715 | 43016925 | GAAGGGGC others(16): Show |
G | intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0007 | a0002c0007t0022 | a0002c0007t0022g0029 | 1 | 342 | 0.0029 | -23 | c.4-1 others(38): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GATAD2A_chr19_19400675_19513932 | 19432951 | TGGTTGGG others(16): Show |
T | intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0233 | 1 | 298 | 0.0034 | -23 | c.-7+ others(40): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
GATAD2A_chr19_19400675_19513932 | 19440911 | CCTTCCTT others(16): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00642.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0038a0001c0001t0003g0059a0001c0001t0004g0129others(31): Show | 34 | 298 | 0.1141 | -23 | c.-6- others(40): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GCAT_chr22_37802934_37821897 | 37808505 | GGCTTGCC others(16): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0039 | 2 | 390 | 0.0051 | -23 | c.196 others(38): Show |
GCAT | ENSG00000100116.17 | transcript | ENST00000248924.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GCM1_chr6_53121961_53153841 | 53142000 | GAAAAAAA others(16): Show |
G | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 412 | 0.0024 | -23 | c.75+ others(38): Show |
GCM1 | ENSG00000137270.11 | transcript | ENST00000259803.8 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10611259 | CACTTGAA others(16): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(180): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0013others(180): Show | 183 | 324 | 0.5648 | -23 | c.926 others(42): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10550809_10634368 | 10611259 | CACTTGAA others(16): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(192): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | 344 | 0.5669 | -23 | c.920 others(42): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT3_chr15_59606783_59627723 | 59610948 | TCCCCCTC others(16): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 428 | 0.0023 | -23 | c.-12 others(34): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 834 | chr15 | TogoVar | ||||||
GDI2_chr10_5760223_5818434 | 5794185 | AAAAATAT others(16): Show |
A | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 398 | 0.0025 | -23 | c.388 others(38): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 4/10 | chr10 | TogoVar | ||||||
GDI2_chr10_5760223_5818434 | 5809786 | TAATTGCA others(16): Show |
T | intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0083 | 1 | 398 | 0.0025 | -23 | c.45+ others(38): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59219059 | ATTTTTTT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0002g0169a0001c0001t0003g0301a0001c0001t0007g0234others(16): Show | 19 | 312 | 0.0609 | -23 | c.-15 others(34): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 1451 | chr17 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59260060 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 312 | 0.0032 | -23 | c.576 others(40): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GET1_chr21_39375326_39402889 | 39378596 | TTTCTTTC others(16): Show |
T | upstream_gene_variant | MODIFIER | NA18960.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0058a0001c0001t0011g0002 | 2 | 338 | 0.0059 | -23 | c.-17 others(34): Show |
GET1 | ENSG00000182093.16 | transcript | ENST00000649170.1 | protein_coding | 1729 | chr21 | TogoVar | ||||||
GFI1B_chr9_132973694_132996687 | 132976201 | ATGAAACC others(16): Show |
A | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 476 | 0.0021 | -23 | c.-26 others(34): Show |
GFI1B | ENSG00000165702.15 | transcript | ENST00000372122.4 | protein_coding | 2492 | chr9 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116196628 | AATATATA others(16): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02071.hp1 HG02622.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(8): Show | a0001c0001t0002g0164a0001c0001t0003g0183a0001c0001t0016g0153others(8): Show | 11 | 214 | 0.0514 | -23 | c.433 others(42): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605496 | ATAATATT others(16): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0281 | 1 | 426 | 0.0024 | -23 | c.-42 others(42): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
GGT6_chr17_4551927_4565577 | 4564678 | TTTCTTTC others(16): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02451.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0003c0004t0005others(1): Show | a0001c0001t0001g0025a0001c0002t0002g0002a0003c0004t0005g0011others(1): Show | 9 | 458 | 0.0197 | -23 | c.-41 others(34): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 4102 | chr17 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42576120 | AAATAAAA others(16): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00733.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0002a0001c0001t0014a0002c0002t0001others(3): Show | a0001c0001t0002g0035a0001c0001t0002g0054a0001c0001t0002g0063others(12): Show | 15 | 210 | 0.0714 | -23 | c.70+ others(40): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42579132 | TAGATAGA others(16): Show |
T | intron_variant | MODIFIER | HG03098.hp2 HG03704.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0005c0007t0024 | a0001c0001t0002g0031a0005c0007t0024g0075 | 2 | 210 | 0.0095 | -23 | c.70+ others(40): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42579136 | TAGATGAT others(16): Show |
T | intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0133 | 1 | 210 | 0.0048 | -23 | c.70+ others(40): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42579140 | TGATAGAT others(16): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01261.hp1 |
a0002a0003 | a0002c0002a0003c0013 | a0002c0002t0008a0003c0013t0003 | a0002c0002t0008g0146a0003c0013t0003g0144 | 2 | 210 | 0.0095 | -23 | c.70+ others(40): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232778126 | GGGTCTTG others(16): Show |
G | intron_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0065 | 1 | 376 | 0.0027 | -23 | c.533 others(40): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIMAP7_chr7_150509872_150526073 | 150523031 | CTGAGGCA others(16): Show |
C | downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0005 | 1 | 466 | 0.0022 | -23 | c.*21 others(34): Show |
GIMAP7 | ENSG00000179144.5 | transcript | ENST00000313543.5 | protein_coding | 1959 | chr7 | TogoVar | ||||||
GIMD1_chr4_106352392_106373778 | 106365774 | TGAATAGT others(16): Show |
T | intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0079 | 1 | 452 | 0.0022 | -23 | c.393 others(40): Show |
GIMD1 | ENSG00000250298.6 | transcript | ENST00000638719.4 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562293 | TATATATA others(16): Show |
T | upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0155 | 1 | 380 | 0.0026 | -23 | c.-41 others(34): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4081 | chr6 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562294 | ATATATAT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 380 | 0.0026 | -23 | c.-41 others(34): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4080 | chr6 | TogoVar | ||||||
GIPC2_chr1_78040966_78143444 | 78142354 | ATGTGTGT others(16): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG02015.hp1 HG02074.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0013 | a0001c0001t0005a0002c0002t0005a0002c0002t0026others(1): Show | a0001c0001t0005g0310a0002c0002t0005g0034a0002c0002t0005g0058others(11): Show | 14 | 332 | 0.0422 | -23 | c.*66 others(34): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3911 | chr1 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34746228 | AAAAAAAA others(16): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0009 | 1 | 446 | 0.0022 | -23 | c.*62 others(34): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4803 | chr15 | TogoVar |