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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC6_chr10_59783747_59911556 | 59882003 | T | TGGGGGGA others(2636): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 288 | 0.0035 | 2643 | c.303 others(2662): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2636): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 346 | 0.0029 | 2643 | c.-17 others(2654): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2636): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0233 | 1 | 428 | 0.0023 | 2643 | c.283 others(2660): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAM16_chr16_4335251_4356321 | 4344638 | C | CGTGAGAG others(2636): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0234 | 1 | 367 | 0.0027 | 2643 | c.4-1 others(2656): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2636): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0006 | 1 | 302 | 0.0033 | 2643 | c.*39 others(2654): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(2636): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0097 | 1 | 214 | 0.0047 | 2643 | c.206 others(2662): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49202848 | T | TCCGGGAG others(2637): Show |
intron_variant | MODIFIER | HG02132.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076a0001c0001t0003g0079 | 2 | 290 | 0.0069 | 2644 | c.162 others(2663): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976616 | C | CCACGCAG others(2637): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0067 | 1 | 116 | 0.0086 | 2644 | c.199 others(2663): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2637): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0007 | a0003c0007t0016 | a0003c0007t0016g0081 | 1 | 250 | 0.0040 | 2644 | c.-22 others(2663): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2637): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0025 | 1 | 433 | 0.0023 | 2644 | c.-16 others(2655): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | ||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2637): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 433 | 0.0023 | 2644 | c.-16 others(2655): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | ||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2637): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 433 | 0.0023 | 2644 | c.-16 others(2655): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2638): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0322 | 1 | 434 | 0.0023 | 2645 | c.16+ others(2660): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2638): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0069 | 1 | 364 | 0.0028 | 2645 | c.445 others(2660): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(2638): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0063 | a0063c0092 | a0063c0092t0002 | a0063c0092t0002g0002 | 1 | 170 | 0.0059 | 2645 | c.101 others(2664): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EXD3_chr9_137301896_137428162 | 137355485 | A | AGGAGAAA others(2638): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 82 | 0.0122 | 2645 | c.758 others(2660): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183149689 | C | CCTCTCCT others(2638): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02818.hp2 |
a0003a0004 | a0003c0004a0004c0007 | a0003c0004t0007a0004c0007t0005 | a0003c0004t0007g0247a0004c0007t0005g0218 | 2 | 308 | 0.0065 | 2645 | c.*68 others(2656): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 4098 | chr1 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(2638): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 279 | 0.0036 | 2645 | c.215 others(2662): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2638): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 322 | 0.0031 | 2645 | c.178 others(2662): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2638): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0107 | 1 | 158 | 0.0063 | 2645 | c.284 others(2664): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2638): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0096 | 1 | 250 | 0.0040 | 2645 | c.-22 others(2664): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
UBR2_chr6_42559029_42698505 | 42574863 | T | TAATTTTT others(2638): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 342 | 0.0029 | 2645 | c.338 others(2660): Show |
UBR2 | ENSG00000024048.11 | transcript | ENST00000372901.2 | protein_coding | 2/46 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2639): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0272 | 1 | 434 | 0.0023 | 2646 | c.16+ others(2661): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2639): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0226 | 1 | 298 | 0.0034 | 2646 | c.126 others(2663): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(2639): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02976.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0048 | a0001c0001t0006g0259a0001c0001t0006g0267a0001c0001t0008g0261others(2): Show | 5 | 368 | 0.0136 | 2646 | c.353 others(2663): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120111 | T | TGGAGGAG others(2639): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 |
a0001 | a0001c0005 | a0001c0005t0031 | a0001c0005t0031g0242a0001c0005t0031g0243 | 2 | 368 | 0.0054 | 2646 | c.353 others(2663): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744883 | C | CCCTGGTT others(2639): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0073 | a0001c0073t0002 | a0001c0073t0002g0070 | 1 | 196 | 0.0051 | 2646 | c.655 others(2663): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431886 | C | CAGGGTGG others(2639): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0305 | 1 | 376 | 0.0027 | 2646 | c.101 others(2665): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432138 | C | CAGGGTGG others(2639): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0083 | 1 | 376 | 0.0027 | 2646 | c.101 others(2663): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(2639): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0166 | 1 | 376 | 0.0027 | 2646 | c.101 others(2663): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2640): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0329 | 1 | 434 | 0.0023 | 2647 | c.16+ others(2662): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49202848 | T | TCCGGGAG others(2640): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 290 | 0.0035 | 2647 | c.162 others(2666): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71680483 | C | CCTTCCTC others(2640): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0020 | 1 | 76 | 0.0132 | 2647 | c.150 others(2666): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SEMA3C_chr7_80737538_80924051 | 80914418 | T | TAAGAAAA others(2640): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 244 | 0.0041 | 2647 | c.103 others(2664): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(2641): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 306 | 0.0033 | 2648 | c.130 others(2667): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2641): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0254 | 1 | 434 | 0.0023 | 2648 | c.16+ others(2663): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2641): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0252 | 1 | 434 | 0.0023 | 2648 | c.16+ others(2663): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2641): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02257.hp2 HG02258.hp2 others(2): Show |
a0004a0007 | a0004c0004a0007c0005 | a0004c0004t0002a0004c0004t0006a0007c0005t0002 | a0004c0004t0002g0192a0004c0004t0006g0199a0004c0004t0006g0201others(2): Show | 5 | 274 | 0.0183 | 2648 | c.179 others(2667): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2641): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0170 | 1 | 274 | 0.0037 | 2648 | c.179 others(2667): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2641): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0193 | 1 | 274 | 0.0037 | 2648 | c.179 others(2667): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2641): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0200 | 1 | 274 | 0.0037 | 2648 | c.179 others(2667): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2641): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 274 | 0.0037 | 2648 | c.179 others(2667): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2641): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 274 | 0.0037 | 2648 | c.179 others(2667): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2641): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 274 | 0.0037 | 2648 | c.179 others(2667): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SEMA3C_chr7_80737538_80924051 | 80914418 | T | TAAGAAAA others(2641): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 244 | 0.0041 | 2648 | c.103 others(2665): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2641): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0079a0001c0002t0002g0140 | 2 | 158 | 0.0127 | 2648 | c.284 others(2667): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2641): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 1 | 420 | 0.0024 | 2648 | c.*32 others(2659): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2641): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 1 | 420 | 0.0024 | 2648 | c.*32 others(2659): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2642): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0259 | 1 | 434 | 0.0023 | 2649 | c.16+ others(2664): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2642): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0257 | 1 | 434 | 0.0023 | 2649 | c.16+ others(2664): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar |