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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNB1_chr1_1780286_1896087 | 1864314 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 336 | 0.0030 | 26 | c.-95 others(45): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52111173 | A | AACACACA others(19): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG03041.hp2 NA19001.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0184a0001c0002t0202a0001c0003t0097others(1): Show | a0001c0001t0184g0200 a0001c0002t0202g0318 a0001c0003t0097g0091 others(1): Show |
4 | 366 | 0.0109 | 26 | c.*11 others(39): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 3926 | chr15 | TogoVar | |||||||
GNE_chr9_36209441_36263448 | 36216327 | A | ATGTGTGT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00735.hp1 others(42): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0030others(10): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0019 others(39): Show |
45 | 374 | 0.1203 | 26 | c.*10 others(37): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36263448 | 36216327 | A | ATGTGTGT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01981.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0082a0001c0001t0093others(1): Show | a0001c0001t0034g0007 a0001c0001t0082g0214 a0001c0001t0093g0290 others(1): Show |
5 | 374 | 0.0134 | 26 | c.*10 others(37): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36281978 | 36216327 | A | ATGTGTGT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00735.hp1 others(41): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0002a0001c0001t0018a0001c0001t0039others(9): Show | a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0082 others(41): Show |
44 | 356 | 0.1236 | 26 | c.*10 others(37): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36281978 | 36216327 | A | ATGTGTGT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01981.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0038a0001c0001t0092others(1): Show | a0001c0001t0032g0001 a0001c0001t0038g0130 a0001c0001t0038g0351 others(2): Show |
6 | 356 | 0.0169 | 26 | c.*10 others(37): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNG12_chr1_67696475_67838467 | 67763090 | G | GGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02647.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0075 a0001c0001t0002g0126 a0001c0001t0005g0005 others(4): Show |
7 | 274 | 0.0256 | 26 | c.-27 others(45): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795580 | G | GCCGCCCC others(19): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 422 | 0.0024 | 26 | c.*31 others(37): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2460 | chr16 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795580 | G | GCCGCCCC others(19): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0052 a0001c0002t0007g0053 |
2 | 422 | 0.0047 | 26 | c.*31 others(37): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2460 | chr16 | TogoVar | |||||||
GNG2_chr14_51855612_51974795 | 51942573 | C | CTTTCTTT others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0338 | 1 | 380 | 0.0026 | 26 | c.-29 others(43): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GNG4_chr1_235542685_235654784 | 235596207 | A | ACAAAATA others(19): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0244 | 1 | 330 | 0.0030 | 26 | c.-12 others(43): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GNG4_chr1_235542685_235654784 | 235619184 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0255 | 1 | 330 | 0.0030 | 26 | c.-12 others(47): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2567331 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01168.hp1 HG01256.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0180 a0001c0001t0002g0062 a0001c0001t0002g0091 others(13): Show |
16 | 206 | 0.0777 | 26 | c.-77 others(45): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2567350 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0057 | a0001c0001t0013g0161 a0001c0001t0057g0171 |
2 | 206 | 0.0097 | 26 | c.-77 others(45): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2639734 | A | AGAAGGAG others(19): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0018 | 1 | 206 | 0.0049 | 26 | c.-78 others(43): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2639761 | A | AAGGAGGG others(19): Show |
intron_variant | MODIFIER | NA19010.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0062 | a0001c0001t0002g0092 a0001c0001t0062g0152 |
2 | 206 | 0.0097 | 26 | c.-78 others(43): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2657361 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0188 | 1 | 206 | 0.0049 | 26 | c.-13 others(47): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101824405 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 392 | 0.0026 | 26 | c.117 others(43): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833178 | A | AATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG01433.hp1 NA19003.hp1 |
a0001a0013 | a0001c0003a0013c0015 | a0001c0003t0003a0013c0015t0003 | a0001c0003t0003g0153 a0001c0003t0003g0167 a0013c0015t0003g0150 |
3 | 392 | 0.0077 | 26 | c.-25 others(37): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2220 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833180 | A | AATATATA others(19): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0163 | 1 | 392 | 0.0026 | 26 | c.-25 others(37): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2222 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833182 | A | AATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0180 a0005c0010t0003g0181 |
2 | 392 | 0.0051 | 26 | c.-25 others(37): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2224 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132767615 | C | CAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0003 | a0001c0003t0041 | a0001c0003t0041g0165 | 1 | 308 | 0.0033 | 26 | c.*54 others(37): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 1298 | chr12 | TogoVar | |||||||
GOLGA6L10_chr15_82334993_82354475 | 82342673 | T | TAAATTTA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG02976.hp2 | a0036 | a0036c0050 | a0036c0050t0045 | a0036c0050t0045g0124 | 1 | 301 | 0.0033 | 26 | c.*10 others(35): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 9/9 | 102 | chr15 | TogoVar | ||||||
GOLGA6L1_chr15_23122066_23141822 | 23137552 | C | CACGCACA others(19): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 204 | 0.0049 | 26 | c.-82 others(35): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 731 | chr15 | TogoVar | |||||||
GOLGA8N_chr15_32588456_32612237 | 32598537 | C | CGCGTGCA others(19): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01081.hp1 others(8): Show |
a0003a0007a0013others(2): Show | a0003c0003a0003c0014a0007c0007others(3): Show | a0003c0003t0007a0003c0014t0007a0007c0007t0003others(3): Show | a0003c0003t0007g0078 a0003c0014t0007g0076 a0003c0014t0007g0077 others(7): Show |
11 | 286 | 0.0385 | 26 | c.591 others(41): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GOLGB1_chr3_121658201_121754741 | 121745272 | A | ATATGTAT others(19): Show |
intron_variant | MODIFIER | NA18993.hp2 NA19003.hp2 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0133 |
3 | 370 | 0.0081 | 26 | c.-3+ others(41): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
GOLGB1_chr3_121658201_121754741 | 121745293 | T | TACGTGTA others(19): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18984.hp2 |
a0001a0029 | a0001c0001a0029c0027 | a0001c0001t0003a0029c0027t0001 | a0001c0001t0003g0104 a0029c0027t0001g0207 |
2 | 370 | 0.0054 | 26 | c.-3+ others(41): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86088420 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18942.hp2 NA18954.hp2 |
a0001a0002 | a0001c0003a0001c0004a0002c0006 | a0001c0003t0002a0001c0004t0002a0002c0006t0002 | a0001c0003t0002g0075 a0001c0004t0002g0076 a0002c0006t0002g0001 |
3 | 314 | 0.0096 | 26 | c.-21 others(43): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTATACAT others(19): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 414 | 0.0024 | 26 | c.297 others(43): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(26): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0041 others(22): Show |
29 | 414 | 0.0701 | 26 | c.297 others(43): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01256.hp2 HG01934.hp1 others(26): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0025 others(15): Show |
29 | 414 | 0.0701 | 26 | c.297 others(43): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTGTGTAT others(19): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18970.hp2 NA19064.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0115 a0001c0001t0001g0232 |
4 | 414 | 0.0097 | 26 | c.297 others(43): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19010.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0306 a0001c0005t0001g0101 |
2 | 414 | 0.0048 | 26 | c.297 others(43): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204208474 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 414 | 0.0024 | 26 | c.25+ others(41): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
GPA33_chr1_167047836_167095377 | 167087908 | T | TCACACAC others(19): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02027.hp2 HG02074.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0002c0002t0003others(1): Show | a0001c0001t0003g0024 a0001c0001t0003g0112 a0001c0001t0004g0120 others(5): Show |
9 | 370 | 0.0243 | 26 | c.43+ others(41): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
GPAA1_chr8_144077634_144091216 | 144089597 | T | TATACATA others(19): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 338 | 0.0059 | 26 | c.*34 others(37): Show |
GPAA1 | ENSG00000197858.12 | transcript | ENST00000355091.9 | protein_coding | 3382 | chr8 | TogoVar | |||||||
GPAA1_chr8_144077634_144091216 | 144089669 | C | CATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 26 | c.*35 others(37): Show |
GPAA1 | ENSG00000197858.12 | transcript | ENST00000355091.9 | protein_coding | 3454 | chr8 | TogoVar | |||||||
GPAA1_chr8_144077634_144091216 | 144089679 | T | TACGTATA others(19): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 26 | c.*35 others(37): Show |
GPAA1 | ENSG00000197858.12 | transcript | ENST00000355091.9 | protein_coding | 3464 | chr8 | TogoVar | |||||||
GPALPP1_chr13_44984538_45035305 | 44995169 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG02004.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0286 a0001c0001t0003g0227 a0001c0001t0003g0234 others(14): Show |
17 | 348 | 0.0489 | 26 | c.88+ others(41): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83551813 | A | AAAATCTA others(19): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0324 | 1 | 334 | 0.0030 | 26 | c.208 others(43): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83578948 | T | TTCTTTCT others(19): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 334 | 0.0030 | 26 | c.209 others(43): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GPAT4_chr8_41573200_41630001 | 41574454 | A | ATTTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0116 | 1 | 410 | 0.0024 | 26 | c.-46 others(37): Show |
GPAT4 | ENSG00000158669.11 | transcript | ENST00000396987.7 | protein_coding | 3745 | chr8 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44414147 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 326 | 0.0031 | 26 | c.493 others(43): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44429649 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18975.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0309 a0001c0002t0001g0310 |
2 | 326 | 0.0061 | 26 | c.349 others(43): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44453490 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0254 | 1 | 326 | 0.0031 | 26 | c.193 others(45): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44453494 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG03654.hp1 others(2): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0001a0001c0016t0001 | a0001c0002t0001g0252 a0001c0002t0001g0255 a0001c0002t0001g0260 others(2): Show |
5 | 326 | 0.0153 | 26 | c.193 others(45): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44453500 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 326 | 0.0031 | 26 | c.193 others(45): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 326 | 0.0031 | 26 | c.46- others(41): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03491.hp2 HG03492.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0106 a0001c0002t0001g0266 a0001c0002t0004g0273 others(2): Show |
5 | 326 | 0.0153 | 26 | c.46- others(41): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0298 | 1 | 326 | 0.0031 | 26 | c.46- others(41): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar |