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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA31C1_chr9_87912962_87928657 | 87913525 | C | CAAAAAAA others(3469): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 388 | 0.0026 | 3476 | c.-44 others(3487): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4436 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87913525 | C | CAAAAAAA others(3469): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0005 | a0005c0034 | a0005c0034t0001 | a0005c0034t0001g0003 | 1 | 388 | 0.0026 | 3476 | c.-44 others(3487): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4436 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87913525 | C | CAAAAAAA others(3469): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0047 | a0047c0045 | a0047c0045t0001 | a0047c0045t0001g0004 | 1 | 388 | 0.0026 | 3476 | c.-44 others(3487): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4436 | chr9 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87916251 | C | CAAAAAAA others(3469): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 388 | 0.0026 | 3476 | c.-17 others(3487): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1710 | chr9 | TogoVar | ||||||
ANLN_chr7_36384862_36458791 | 36392484 | T | TCCTACTT others(3471): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0221 | 1 | 408 | 0.0025 | 3478 | c.18+ others(3493): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ARHGEF4_chr2_130831914_131052253 | 130861012 | G | GTTAAAAA others(3471): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0007 | a0007c0013 | a0007c0013t0002 | a0007c0013t0002g0095 | 1 | 144 | 0.0069 | 3478 | c.39+ others(3495): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241664 | C | CCCCTTCC others(3471): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 183 | 0.0055 | 3478 | c.107 others(3497): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3471): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 423 | 0.0024 | 3478 | c.*19 others(3489): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771926 | A | AGGGAGGG others(3471): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0114 | 1 | 272 | 0.0037 | 3478 | c.389 others(3497): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | chr8 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916823 | G | GACACGCT others(3472): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 274 | 0.0037 | 3479 | c.179 others(3498): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3472): Show |
upstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 323 | 0.0031 | 3479 | c.-21 others(3490): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATGTA others(3472): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0082 | 1 | 323 | 0.0031 | 3479 | c.-21 others(3490): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3472): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 356 | 0.0028 | 3479 | c.114 others(3496): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(3473): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0208 | 1 | 298 | 0.0034 | 3480 | c.955 others(3497): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3473): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 423 | 0.0024 | 3480 | c.*19 others(3491): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249447 | G | GGGAGAAG others(3473): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0102 | 1 | 214 | 0.0047 | 3480 | c.206 others(3499): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(3473): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0213 | 1 | 356 | 0.0028 | 3480 | c.114 others(3497): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
FAM161B_chr14_73927276_73955094 | 73943369 | T | TCTGAACT others(3474): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0062 | 1 | 442 | 0.0023 | 3481 | c.926 others(3496): Show |
FAM161B | ENSG00000156050.10 | transcript | ENST00000286544.5 | protein_coding | 3/8 | chr14 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3474): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 423 | 0.0024 | 3481 | c.*19 others(3492): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(3474): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0206 | 1 | 356 | 0.0028 | 3481 | c.114 others(3498): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3475): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 423 | 0.0024 | 3482 | c.*19 others(3493): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3475): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 423 | 0.0024 | 3482 | c.*19 others(3493): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3475): Show |
downstream_gene_variant | MODIFIER | NA18956.hp1 NA19003.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005a0001c0002t0001g0092 | 2 | 423 | 0.0047 | 3482 | c.*19 others(3493): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132243320 | A | AACACACC others(3476): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0023 | a0005c0023t0005 | a0005c0023t0005g0028 | 1 | 183 | 0.0055 | 3483 | c.107 others(3502): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3476): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 423 | 0.0024 | 3483 | c.*19 others(3494): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3476): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 323 | 0.0031 | 3483 | c.-21 others(3494): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(3476): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 356 | 0.0028 | 3483 | c.114 others(3500): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3477): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02015.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0063a0001c0001t0001g0146a0001c0001t0026g0143 | 3 | 175 | 0.0171 | 3484 | c.164 others(3503): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCTTCT others(3477): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0046 | a0046c0132 | a0046c0132t0005 | a0046c0132t0005g0147 | 1 | 174 | 0.0058 | 3484 | c.193 others(3503): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3477): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 423 | 0.0024 | 3484 | c.*19 others(3495): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3477): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 423 | 0.0024 | 3484 | c.*19 others(3495): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3477): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 423 | 0.0024 | 3484 | c.*19 others(3495): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953985 | A | ACACCCAC others(3477): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0007 | a0007c0046 | a0007c0046t0004 | a0007c0046t0004g0036 | 1 | 294 | 0.0034 | 3484 | c.503 others(3499): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539624 | C | CTTCATAA others(3478): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0013 | a0002c0013t0035 | a0002c0013t0035g0035 | 1 | 104 | 0.0096 | 3485 | c.139 others(3506): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2539624 | C | CTTCATAA others(3478): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 104 | 0.0096 | 3485 | c.139 others(3506): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3478): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 423 | 0.0024 | 3485 | c.*19 others(3496): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
SLC10A5_chr8_81688631_81700058 | 81696337 | T | TAAGAAAA others(3478): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 426 | 0.0024 | 3485 | c.-13 others(3496): Show |
SLC10A5 | ENSG00000253598.3 | transcript | ENST00000518568.3 | protein_coding | 1280 | chr8 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236713997 | T | TGTGTGTT others(3479): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 344 | 0.0029 | 3486 | c.127 others(3503): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236714064 | T | TGTGTGTT others(3479): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 344 | 0.0029 | 3486 | c.127 others(3503): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLPTM1L_chr5_1312752_1350099 | 1328059 | T | TACAGACA others(3479): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 370 | 0.0027 | 3486 | c.108 others(3505): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3479): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 423 | 0.0024 | 3486 | c.*19 others(3497): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88135897 | T | TTATTTTA others(3479): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 2 | 446 | 0.0045 | 3486 | c.190 others(3503): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88135897 | T | TTATTTTA others(3479): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0016 | a0016c0022 | a0016c0022t0001 | a0016c0022t0001g0287 | 1 | 446 | 0.0022 | 3486 | c.190 others(3503): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88139915 | C | CAATATTC others(3480): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 446 | 0.0022 | 3487 | c.-14 others(3498): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1441 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88139915 | C | CAATATTC others(3480): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 446 | 0.0022 | 3487 | c.-14 others(3498): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1441 | chr9 | TogoVar | ||||||
ZBTB42_chr14_104796101_104809712 | 104806614 | A | ACCACCAT others(3480): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0005 | a0002c0005t0012 | a0002c0005t0012g0000 | 1 | 99 | 0.0101 | 3487 | c.*41 others(3498): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 1903 | chr14 | TogoVar | ||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3481): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 40 | 0.0250 | 3488 | c.*14 others(3499): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(3481): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0052 | a0052c0136 | a0052c0136t0005 | a0052c0136t0005g0152 | 1 | 174 | 0.0058 | 3488 | c.193 others(3507): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SPATA31C2_chr9_88124305_88143475 | 88136124 | T | TGGGTTTC others(3481): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0053 | a0002c0053t0001 | a0002c0053t0001g0290 | 1 | 446 | 0.0022 | 3488 | c.189 others(3505): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3482): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0180 | 1 | 236 | 0.0042 | 3489 | c.294 others(3506): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar |