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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNA15_chr19_3131033_3168749 | 3158884 | C | CAGCCTCC others(42): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 450 | 0.0022 | 49 | c.898 others(66): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNAI1_chr7_80129831_80231181 | 80200324 | C | CAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0123 | a0001c0001t0123g0085 | 1 | 312 | 0.0032 | 49 | c.461 others(64): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11788912 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0004 | a0003c0004t0065 | a0003c0004t0065g0006 | 1 | 248 | 0.0040 | 49 | c.624 others(68): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11788914 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0155 | a0001c0001t0155g0023 | 1 | 248 | 0.0040 | 49 | c.624 others(68): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11804872 | G | GGTGGAAC others(42): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0079 | 1 | 248 | 0.0040 | 49 | c.625 others(68): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11788912 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0159 | a0001c0001t0159g0229 | 1 | 284 | 0.0035 | 49 | c.393 others(68): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11788914 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0069 | 1 | 284 | 0.0035 | 49 | c.393 others(68): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11804872 | G | GGTGGAAC others(42): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0206 | 1 | 284 | 0.0035 | 49 | c.394 others(68): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAQ_chr9_77711097_78036811 | 77762249 | T | TGGGGGGT others(42): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 NA18906.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0053 | a0001c0001t0002g0060 a0001c0001t0012g0043 a0001c0001t0012g0057 others(2): Show |
5 | 282 | 0.0177 | 49 | c.735 others(68): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(42): Show |
3_prime_UTR_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0112 | a0001c0003t0112g0087 | 1 | 366 | 0.0027 | 49 | c.*56 others(60): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(42): Show |
3_prime_UTR_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0099 | a0001c0003t0099g0095 | 1 | 366 | 0.0027 | 49 | c.*56 others(60): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52117103 | T | TATATATA others(42): Show |
3_prime_UTR_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0137 | a0001c0002t0137g0266 | 1 | 366 | 0.0027 | 49 | c.*56 others(60): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5653 | chr15 | TogoVar | ||||||
GNG2_chr14_51855612_51974795 | 51942589 | C | CTTTCTTT others(42): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02080.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0035others(1): Show | a0001c0001t0001g0107 a0001c0001t0001g0303 a0001c0001t0007g0358 others(2): Show |
5 | 380 | 0.0132 | 49 | c.-29 others(66): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GNG2_chr14_51855612_51974795 | 51942592 | T | TCTTTCTT others(42): Show |
intron_variant | MODIFIER | HG03834.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 a0001c0001t0001g0359 |
2 | 380 | 0.0053 | 49 | c.-29 others(66): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2604494 | A | AGGAAGGA others(42): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0017a0001c0001t0018others(5): Show | a0001c0001t0012g0050 a0001c0001t0017g0025 a0001c0001t0018g0158 others(5): Show |
8 | 206 | 0.0388 | 49 | c.-78 others(68): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNL3L_chrX_54525219_54572289 | 54530148 | G | GCCCGCCC others(42): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0037 | 1 | 277 | 0.0036 | 49 | c.-31 others(58): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 70 | chrX | TogoVar | |||||||
GOLGA6A_chr15_74064857_74087550 | 74065448 | C | CTCTCTCT others(42): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02647.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0069 a0003c0005t0001g0070 a0003c0005t0001g0071 |
3 | 137 | 0.0219 | 49 | c.*54 others(60): Show |
GOLGA6A | ENSG00000159289.6 | transcript | ENST00000290438.3 | protein_coding | 4408 | chr15 | TogoVar | |||||||
GOLGA6A_chr15_74064857_74087550 | 74065448 | C | CTCTCTCT others(42): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0020 | a0020c0022 | a0020c0022t0001 | a0020c0022t0001g0061 | 1 | 137 | 0.0073 | 49 | c.*54 others(60): Show |
GOLGA6A | ENSG00000159289.6 | transcript | ENST00000290438.3 | protein_coding | 4408 | chr15 | TogoVar | |||||||
GPER1_chr7_1083113_1098810 | 1090493 | C | CCCCACTG others(42): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 446 | 0.0022 | 49 | c.-32 others(66): Show |
GPER1 | ENSG00000164850.16 | transcript | ENST00000397088.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GPER1_chr7_1083113_1098810 | 1090533 | T | TGGGACCC others(42): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 446 | 0.0022 | 49 | c.-32 others(66): Show |
GPER1 | ENSG00000164850.16 | transcript | ENST00000397088.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GPR139_chr16_20023239_20078890 | 20041152 | A | AGAGGGAG others(42): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0329 | 1 | 364 | 0.0028 | 49 | c.128 others(66): Show |
GPR139 | ENSG00000180269.8 | transcript | ENST00000570682.2 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
GPR176_chr15_39794008_39925266 | 39894052 | A | ACCTCCCG others(42): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 a0001c0001t0001g0269 |
2 | 312 | 0.0064 | 49 | c.172 others(68): Show |
GPR176 | ENSG00000166073.12 | transcript | ENST00000561100.2 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
GPR176_chr15_39794008_39925266 | 39894255 | T | TGGGGGCT others(42): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0258 | 1 | 312 | 0.0032 | 49 | c.172 others(68): Show |
GPR176 | ENSG00000166073.12 | transcript | ENST00000561100.2 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
GPR89B_chr1_147923420_147998592 | 147949906 | C | CGGCTGGC others(42): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02572.hp1 HG02647.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0264 others(7): Show |
10 | 274 | 0.0365 | 49 | c.416 others(66): Show |
GPR89B | ENSG00000188092.15 | transcript | ENST00000314163.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GPR89B_chr1_147923420_147998592 | 147949919 | G | GGGGGGCT others(42): Show |
intron_variant | MODIFIER | HG02965.hp1 HG02976.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 others(1): Show |
4 | 274 | 0.0146 | 49 | c.416 others(66): Show |
GPR89B | ENSG00000188092.15 | transcript | ENST00000314163.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GPR89B_chr1_147923420_147998592 | 147949946 | C | CGGACGGG others(42): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0244 | 1 | 274 | 0.0037 | 49 | c.416 others(66): Show |
GPR89B | ENSG00000188092.15 | transcript | ENST00000314163.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176592517 | A | AGTGGTGG others(42): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0052 | 1 | 397 | 0.0025 | 49 | c.*42 others(60): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 3284 | chr5 | TogoVar | |||||||
GPX5_chr6_28520881_28539955 | 28531998 | A | AGGCTCAG others(42): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 411 | 0.0024 | 49 | c.359 others(64): Show |
GPX5 | ENSG00000224586.7 | transcript | ENST00000412168.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GRAMD1B_chr11_123425269_123632767 | 123513617 | C | CCTTCCTT others(42): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0036 | 1 | 282 | 0.0036 | 49 | c.452 others(68): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRAMD1C_chr3_113833788_113952174 | 113911696 | T | TTTCCTTC others(42): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00642.hp1 others(24): Show |
a0001a0009a0010 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0108 a0001c0001t0001g0136 a0001c0001t0001g0150 others(24): Show |
27 | 324 | 0.0833 | 49 | c.952 others(66): Show |
GRAMD1C | ENSG00000178075.20 | transcript | ENST00000358160.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRAMD1C_chr3_113833788_113952174 | 113911696 | T | TTTCCTTC others(42): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0178 others(19): Show |
22 | 324 | 0.0679 | 49 | c.952 others(66): Show |
GRAMD1C | ENSG00000178075.20 | transcript | ENST00000358160.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46631389 | A | ACTCCTGG others(42): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0090 | 1 | 328 | 0.0031 | 49 | c.162 others(66): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46631422 | A | AGCCTGTG others(42): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0003g0030 others(8): Show |
11 | 328 | 0.0335 | 49 | c.162 others(66): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46631616 | A | ACGGCCTG others(42): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0011 | a0002c0011t0047 | a0002c0011t0047g0064 | 1 | 328 | 0.0031 | 49 | c.162 others(66): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRHL3_chr1_24314357_24360318 | 24345081 | T | TACACCTG others(42): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0013 | a0013c0013 | a0013c0013t0001 | a0013c0013t0001g0184 | 1 | 372 | 0.0027 | 49 | c.145 others(66): Show |
GRHL3 | ENSG00000158055.17 | transcript | ENST00000361548.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GRHL3_chr1_24314357_24360318 | 24345114 | T | TACACCTG others(42): Show |
intron_variant | MODIFIER | NA18963.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0142 |
2 | 372 | 0.0054 | 49 | c.145 others(66): Show |
GRHL3 | ENSG00000158055.17 | transcript | ENST00000361548.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GRIA2_chr4_157215728_157371075 | 157256254 | A | ATATTATA others(42): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 |
3 | 216 | 0.0139 | 49 | c.229 others(68): Show |
GRIA2 | ENSG00000120251.22 | transcript | ENST00000264426.14 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
GRIA3_chrX_123179278_123495915 | 123260503 | A | AGGAAGGA others(42): Show |
intron_variant | MODIFIER | NA18982.hp1 NA18989.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0089 a0001c0002t0004g0203 |
2 | 207 | 0.0097 | 49 | c.508 others(66): Show |
GRIA3 | ENSG00000125675.20 | transcript | ENST00000620443.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GRID1_chr10_85594552_86371795 | 85599802 | A | AAAAATAT others(42): Show |
3_prime_UTR_variant | MODIFIER | NA18747.hp1 | a0003 | a0003c0006 | a0003c0006t0020 | a0003c0006t0020g0026 | 1 | 96 | 0.0104 | 49 | c.*24 others(60): Show |
GRID1 | ENSG00000182771.19 | transcript | ENST00000327946.12 | protein_coding | 16/16 | 2470 | chr10 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119261070 | G | GGCCGGGC others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(184): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(103): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 others(184): Show |
187 | 202 | 0.9257 | 49 | c.52+ others(66): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRM4_chr6_34013643_34151087 | 34071829 | A | ACACACAT others(42): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0180 | 1 | 282 | 0.0036 | 49 | c.737 others(66): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
GRM5_chr11_88499642_89070982 | 88687569 | A | ATATTATA others(42): Show |
intron_variant | MODIFIER | HG01081.hp2 NA18612.hp1 NA18945.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0098 others(4): Show |
7 | 184 | 0.0380 | 49 | c.912 others(68): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
GRM8_chr7_126433598_127257941 | 127051776 | A | AAACAATG others(42): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 108 | 0.0093 | 49 | c.727 others(68): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 3/10 | chr7 | TogoVar | |||||||
GSDMA_chr17_39958004_39982768 | 39965246 | A | AAGGGAGG others(42): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02647.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0135 a0005c0005t0001g0136 |
2 | 438 | 0.0046 | 49 | c.-5- others(62): Show |
GSDMA | ENSG00000167914.12 | transcript | ENST00000301659.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144136395 | A | AAAGGAAA others(42): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03225.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0008g0040 |
3 | 124 | 0.0242 | 49 | c.521 others(66): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | |||||||
GTF2H5_chr6_158163350_158204344 | 158169686 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 384 | 0.0026 | 49 | c.-34 others(64): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169745 | T | TATAATAT others(42): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0179 | 1 | 384 | 0.0026 | 49 | c.-34 others(64): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106710149 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0241 | 1 | 256 | 0.0039 | 49 | c.183 others(68): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
GYG2_chrX_2823930_2887818 | 2846055 | A | ATATACAC others(42): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0021 | 1 | 316 | 0.0032 | 49 | c.149 others(66): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
H1-7_chr12_48323980_48335279 | 48332960 | G | GGGGGGGC others(42): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00558.hp1 others(60): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0001a0005c0005t0001 | a0001c0001t0001g0000 a0003c0003t0001g0000 a0005c0005t0001g0000 |
63 | 424 | 0.1486 | 49 | c.*29 others(60): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2682 | chr12 | TogoVar |