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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2641): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 153 | 0.0065 | 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 | a0001c0001t0002g0177 | 1 | 153 | 0.0065 | 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 | a0001c0001t0002g0141 | 1 | 153 | 0.0065 | 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 | 240 | 0.0042 | 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 | a0001c0001t0001g0079 a0001c0002t0002g0140 |
2 | 24 | 0.0833 | 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 | 352 | 0.0028 | 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 | 352 | 0.0028 | 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 | a0001c0001t0007g0260 | 1 | 264 | 0.0038 | 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 | a0001c0001t0007g0258 | 1 | 264 | 0.0038 | 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 | HG00280.hp1 HG00735.hp1 HG01081.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0041 a0001c0001t0007g0263 a0001c0001t0007g0264 others(3): Show |
7 | 270 | 0.0259 | 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 | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0254 | 1 | 264 | 0.0038 | 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 | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0256 | 1 | 264 | 0.0038 | 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 | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0271 | 1 | 264 | 0.0038 | 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 | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0306 | 1 | 264 | 0.0038 | 2649 | c.16+ others(2664): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
CEACAM5_chr19_41703626_41735433 | 41731821 | T | TAAAAAAT others(2642): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0016 | a0016c0027 | a0016c0027t0015 | a0016c0027t0015g0105 | 1 | 370 | 0.0027 | 2649 | c.*26 others(2660): Show |
CEACAM5 | ENSG00000105388.17 | transcript | ENST00000221992.11 | protein_coding | 1389 | chr19 | TogoVar | |||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2642): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0226 | 1 | 398 | 0.0025 | 2649 | c.283 others(2666): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(2642): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0010 | 1 | 13 | 0.0769 | 2649 | c.*13 others(2662): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
TIMM23_chr10_45967489_46008742 | 45994043 | T | TGAAATGA others(2642): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0229 | 1 | 394 | 0.0025 | 2649 | c.514 others(2666): Show |
TIMM23 | ENSG00000265354.4 | transcript | ENST00000580018.4 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VCPIP1_chr8_66623487_66672231 | 66641945 | G | GTATACAC others(2642): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0183 | 1 | 256 | 0.0039 | 2649 | c.279 others(2668): Show |
VCPIP1 | ENSG00000175073.8 | transcript | ENST00000310421.5 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2643): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0304 | 1 | 264 | 0.0038 | 2650 | c.16+ others(2665): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2643): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0298 | 1 | 264 | 0.0038 | 2650 | c.16+ others(2665): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2643): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0042 | 2 | 265 | 0.0075 | 2650 | c.16+ others(2665): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2643): Show |
intron_variant | MODIFIER | HG00735.hp2 NA18993.hp2 NA19011.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 a0001c0001t0003g0292 |
4 | 267 | 0.0150 | 2650 | c.16+ others(2665): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80914418 | T | TAAGAAAA others(2643): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 240 | 0.0042 | 2650 | c.103 others(2667): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1222459 | C | CTGGAGGT others(2643): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 177 | 0.0056 | 2650 | c.719 others(2669): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46170550 | T | TGGAGGAG others(2643): Show |
intron_variant | MODIFIER | HG03942.hp1 HG04199.hp2 |
a0004 | a0004c0005 | a0004c0005t0019 | a0004c0005t0019g0175 a0004c0005t0019g0176 |
2 | 29 | 0.0690 | 2650 | c.194 others(2667): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2643): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0003 | a0003c0004 | a0003c0004t0043 | a0003c0004t0043g0085 | 1 | 211 | 0.0047 | 2650 | c.-22 others(2669): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2643): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0003 | a0003c0003 | a0003c0003t0077 | a0003c0003t0077g0128 | 1 | 70 | 0.0143 | 2650 | c.742 others(2667): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2643): Show |
upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 404 | 0.0025 | 2650 | c.-16 others(2661): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
ZNF705A_chr12_8152015_8185046 | 8167294 | T | TTCAAAAT others(2643): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 418 | 0.0024 | 2650 | c.-71 others(2667): Show |
ZNF705A | ENSG00000196946.11 | transcript | ENST00000396570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2644): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0328 | 1 | 264 | 0.0038 | 2651 | c.16+ others(2666): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2644): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280 | 1 | 264 | 0.0038 | 2651 | c.16+ others(2666): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2644): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0270 | 1 | 264 | 0.0038 | 2651 | c.16+ others(2666): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2644): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0190 | 1 | 264 | 0.0038 | 2651 | c.16+ others(2666): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2644): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0316 | 1 | 264 | 0.0038 | 2651 | c.16+ others(2666): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2644): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0338 | 1 | 264 | 0.0038 | 2651 | c.16+ others(2666): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2644): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0274 | 1 | 264 | 0.0038 | 2651 | c.16+ others(2666): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2644): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 23 | 0.0435 | 2651 | c.137 others(2668): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2644): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 159 | 0.0063 | 2651 | c.-27 others(2668): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
SRARP_chr1_15999236_16013807 | 16002841 | T | TATAAAAT others(2644): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01361.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0035 | a0001c0001t0001g0002 a0001c0001t0035g0002 |
4 | 390 | 0.0103 | 2651 | c.-14 others(2662): Show |
SRARP | ENSG00000183888.4 | transcript | ENST00000329454.2 | protein_coding | 1394 | chr1 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCTTTT others(2644): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0163 | 1 | 70 | 0.0143 | 2651 | c.742 others(2668): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2645): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0257 | 1 | 264 | 0.0038 | 2652 | c.16+ others(2667): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2645): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0331 a0001c0001t0003g0332 |
2 | 265 | 0.0075 | 2652 | c.16+ others(2667): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2645): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0210 | 1 | 288 | 0.0035 | 2652 | c.96+ others(2667): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5931572 | C | CAGACCAG others(2645): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02148.hp2 |
a0004 | a0004c0008a0004c0009 | a0004c0008t0001a0004c0009t0001 | a0004c0008t0001g0055 a0004c0009t0001g0054 |
2 | 140 | 0.0143 | 2652 | c.23- others(2667): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5931572 | C | CAGACCAG others(2645): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02129.hp1 HG02602.hp2 others(2): Show |
a0004 | a0004c0008a0004c0009 | a0004c0008t0001a0004c0009t0001 | a0004c0008t0001g0061 a0004c0008t0001g0064 a0004c0008t0001g0067 others(2): Show |
5 | 143 | 0.0350 | 2652 | c.23- others(2667): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293479 | A | AGCTCACC others(2645): Show |
intron_variant | MODIFIER | NA18981.hp1 NA19091.hp2 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0226 a0002c0005t0001g0174 |
2 | 269 | 0.0074 | 2652 | c.411 others(2669): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2645): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18988.hp1 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0110 a0001c0001t0001g0153 |
3 | 18 | 0.1667 | 2652 | c.164 others(2671): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2645): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0206 | 1 | 144 | 0.0069 | 2652 | c.*17 others(2663): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2645): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 144 | 0.0069 | 2652 | c.*17 others(2663): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar |