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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4507): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 283 | 0.0035 | 4514 | c.112 others(4531): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4507): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 283 | 0.0035 | 4514 | c.112 others(4531): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492487 | T | TTCCCGGG others(4507): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0031 | 1 | 192 | 0.0052 | 4514 | c.126 others(4533): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4508): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0076 | a0076c0080 | a0076c0080t0001 | a0076c0080t0001g0144 | 1 | 34 | 0.0294 | 4515 | c.299 others(4530): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4509): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 283 | 0.0035 | 4516 | c.112 others(4533): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4510): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0018 | 1 | 271 | 0.0037 | 4517 | c.118 others(4536): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4510): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 283 | 0.0035 | 4517 | c.112 others(4534): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4511): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 55 | 0.0182 | 4518 | c.891 others(4533): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4511): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 283 | 0.0035 | 4518 | c.112 others(4535): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4512): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 283 | 0.0035 | 4519 | c.112 others(4536): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4512): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0092 | 1 | 34 | 0.0294 | 4519 | c.299 others(4534): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4513): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 283 | 0.0035 | 4520 | c.112 others(4537): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344420 | G | GGTGTGTG others(4515): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0175 | 1 | 119 | 0.0084 | 4522 | c.62+ others(4535): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4515): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 8 | 0.1250 | 4522 | c.-45 others(4531): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4515): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 283 | 0.0035 | 4522 | c.112 others(4539): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502712 | C | CGGGGGAC others(4515): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 118 | 0.0085 | 4522 | c.147 others(4539): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(4516): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0024 | a0024c0034 | a0024c0034t0004 | a0024c0034t0004g0088 | 1 | 32 | 0.0313 | 4523 | c.218 others(4538): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CTCCCTCC others(4518): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 73 | 0.0137 | 4525 | c.*23 others(4536): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414408 | T | TGGAGGGG others(4518): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 309 | 0.0032 | 4525 | c.115 others(4542): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
MTCH2_chr11_47612317_47647559 | 47638367 | G | GTGAAACC others(4519): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 | 1 | 368 | 0.0027 | 4526 | c.279 others(4541): Show |
MTCH2 | ENSG00000109919.10 | transcript | ENST00000302503.8 | protein_coding | 3/12 | chr11 | TogoVar | |||||||
NUDC_chr1_26916743_26951871 | 26936166 | T | TATATATA others(4520): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 182 | 0.0055 | 4527 | c.160 others(4544): Show |
NUDC | ENSG00000090273.14 | transcript | ENST00000321265.10 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(4521): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0014 | 1 | 144 | 0.0069 | 4528 | c.*17 others(4539): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(4521): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0008 | 1 | 172 | 0.0058 | 4528 | c.*22 others(4539): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4526): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0158 | 1 | 23 | 0.0435 | 4533 | c.137 others(4550): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TFRC_chr3_196044284_196087090 | 196080033 | T | TGAAAAAT others(4526): Show |
intron_variant | MODIFIER | NA19077.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 a0001c0001t0001g0219 |
2 | 382 | 0.0052 | 4533 | c.-24 others(4550): Show |
TFRC | ENSG00000072274.14 | transcript | ENST00000360110.9 | protein_coding | 1/18 | chr3 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4529): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0188 | 1 | 8 | 0.1250 | 4536 | c.-45 others(4545): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
PLAAT2_chr11_63547770_63568379 | 63559614 | A | AAGCTGAA others(4531): Show |
intron_variant | MODIFIER | NA18968.hp1 NA18972.hp1 NA19063.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 4 | 270 | 0.0148 | 4538 | c.118 others(4553): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
PLAAT2_chr11_63547770_63568379 | 63559614 | A | AAGCTGAA others(4531): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 267 | 0.0037 | 4538 | c.118 others(4553): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
MTCH2_chr11_47612317_47647559 | 47638386 | A | AAAAATAC others(4532): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 368 | 0.0027 | 4539 | c.279 others(4554): Show |
MTCH2 | ENSG00000109919.10 | transcript | ENST00000302503.8 | protein_coding | 3/12 | chr11 | TogoVar | |||||||
PLAAT2_chr11_63547770_63568379 | 63559614 | A | AAGCTGAA others(4532): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 267 | 0.0037 | 4539 | c.118 others(4554): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
PLAAT2_chr11_63547770_63568379 | 63559614 | A | AAGCTGAA others(4532): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 267 | 0.0037 | 4539 | c.118 others(4554): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
PLAAT2_chr11_63547770_63568379 | 63559614 | A | AAGCTGAA others(4532): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0090 |
5 | 271 | 0.0185 | 4539 | c.118 others(4554): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
PLAAT2_chr11_63547770_63568379 | 63559614 | A | AAGCTGAA others(4532): Show |
intron_variant | MODIFIER | NA19007.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 2 | 268 | 0.0075 | 4539 | c.118 others(4554): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
PLAAT2_chr11_63547770_63568379 | 63559614 | A | AAGCTGAA others(4532): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 267 | 0.0037 | 4539 | c.118 others(4554): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
PLAAT2_chr11_63547770_63568379 | 63559614 | A | AAGCTGAA others(4532): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(82): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(22): Show |
85 | 351 | 0.2422 | 4539 | c.118 others(4554): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
PLAAT2_chr11_63547770_63568379 | 63559614 | A | AAGCTGAA others(4532): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0060 |
2 | 268 | 0.0075 | 4539 | c.118 others(4554): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
PLAAT2_chr11_63547770_63568379 | 63559614 | A | AAGCTGAA others(4532): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0066 |
2 | 268 | 0.0075 | 4539 | c.118 others(4554): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
PLAAT2_chr11_63547770_63568379 | 63559614 | A | AAGCTGAA others(4532): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02258.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0053 |
4 | 270 | 0.0148 | 4539 | c.118 others(4554): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
PLAAT2_chr11_63547770_63568379 | 63559614 | A | AAGCTGAA others(4533): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 267 | 0.0037 | 4540 | c.118 others(4555): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
PLAAT2_chr11_63547770_63568379 | 63559614 | A | AAGCTGAA others(4533): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 267 | 0.0037 | 4540 | c.118 others(4555): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(4534): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01433.hp2 |
a0004 | a0004c0017 | a0004c0017t0009 | a0004c0017t0009g0048 | 2 | 255 | 0.0078 | 4541 | c.109 others(4556): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(4534): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 |
a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0049 | 2 | 255 | 0.0078 | 4541 | c.109 others(4556): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4536): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 154 | 0.0065 | 4543 | c.136 others(4560): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4536): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 154 | 0.0065 | 4543 | c.136 others(4560): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4536): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 154 | 0.0065 | 4543 | c.136 others(4560): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4536): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0237 | 1 | 23 | 0.0435 | 4543 | c.137 others(4560): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4536): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0047 | a0047c0105 | a0047c0105t0001 | a0047c0105t0001g0214 | 1 | 34 | 0.0294 | 4543 | c.299 others(4558): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(4536): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 225 | 0.0044 | 4543 | c.*35 others(4554): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(4536): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 225 | 0.0044 | 4543 | c.*35 others(4554): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(4537): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02818.hp2 |
a0008 | a0008c0007 | a0008c0007t0008 | a0008c0007t0008g0113 a0008c0007t0008g0114 |
2 | 7 | 0.2857 | 4544 | c.179 others(4563): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |