| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RAMACL_chr6_166578009_166591678 | 166581999 | A | ACAGGGAG others(229): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0000 | a0000c0000 | a0000c0000t0047 | a0000c0000t0047g0000 | 1 | 442 | 0.0023 | 236 | c.*41 others(247): Show |
RAMACL | ENSG00000235272.3 | transcript | ENST00000444122.3 | protein_coding | 1009 | chr6 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114099832 | C | CCCCCCAC others(229): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 67 | 0.0149 | 236 | c.56- others(253): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RBFOX1_chr16_6014024_7718340 | 6450819 | A | ATATATAT others(229): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0066 | 1 | 68 | 0.0147 | 236 | c.-64 others(257): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| REPS2_chrX_16941658_17158272 | 17050141 | C | CCTTCCTT others(229): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 166 | 0.0060 | 236 | c.908 others(253): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| RETNLB_chr3_108750638_108762410 | 108759634 | C | CATACGTA others(229): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 452 | 0.0022 | 236 | c.-24 others(247): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2225 | chr3 | TogoVar | ||||||
| RETNLB_chr3_108750638_108762410 | 108759658 | C | CATACGTA others(229): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 452 | 0.0022 | 236 | c.-24 others(247): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2249 | chr3 | TogoVar | ||||||
| RIPOR3_chr20_50581108_50696542 | 50666193 | T | TTTTTCCT others(229): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 | 1 | 280 | 0.0036 | 236 | c.3+2 others(251): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | ||||||
| RNF17_chr13_24759169_24884921 | 24881947 | G | GATATATA others(229): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 426 | 0.0024 | 236 | c.*22 others(247): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2027 | chr13 | TogoVar | ||||||
| RNF212_chr4_1066478_1118564 | 1095984 | T | TCCCACAG others(229): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205a0001c0001t0001g0207 | 2 | 406 | 0.0049 | 236 | c.246 others(251): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
| RNF212_chr4_1066478_1118564 | 1096154 | G | GCACACCC others(229): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0150 | 1 | 406 | 0.0025 | 236 | c.246 others(251): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
| RPS6KA2_chr6_166404364_166632251 | 166581999 | A | ACAGGGAG others(229): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0015 | a0001c0015t0004 | a0001c0015t0004g0050 | 1 | 244 | 0.0041 | 236 | c.100 others(255): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 1/20 | chr6 | TogoVar | ||||||
| RSU1_chr10_16585611_16822424 | 16645888 | A | ATATATAT others(229): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 190 | 0.0053 | 236 | c.731 others(255): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288347 | C | CCGTGTCT others(229): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0111 | 1 | 290 | 0.0035 | 236 | c.166 others(253): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1288457 | C | CCCCGAGT others(229): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 290 | 0.0035 | 236 | c.166 others(253): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1288501 | C | CCCTGCTC others(229): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0251 | 1 | 290 | 0.0035 | 236 | c.166 others(253): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | chr1 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1289167 | C | CCGTGTCC others(229): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 290 | 0.0035 | 236 | c.166 others(255): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCUBE1_chr22_43192280_43348372 | 43280959 | T | TTTGGCCA others(229): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 |
a0001 | a0001c0022a0001c0040 | a0001c0022t0010a0001c0040t0071 | a0001c0022t0010g0171a0001c0040t0071g0151 | 2 | 280 | 0.0071 | 236 | c.484 others(254): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43339677 | C | CTCTATGC others(229): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0007 | a0007c0023 | a0007c0023t0093 | a0007c0023t0093g0268 | 1 | 280 | 0.0036 | 236 | c.89- others(249): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(229): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0186 | 1 | 324 | 0.0031 | 236 | c.115 others(253): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SEMA3C_chr7_80737538_80924051 | 80863884 | T | TACATATG others(229): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 244 | 0.0041 | 236 | c.104 others(255): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
| SEMA3C_chr7_80737538_80924051 | 80863884 | T | TACATATG others(229): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 244 | 0.0041 | 236 | c.104 others(255): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
| SEMA3C_chr7_80737538_80924051 | 80863884 | T | TACATATG others(229): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0165 | 1 | 244 | 0.0041 | 236 | c.104 others(255): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
| SEMA3C_chr7_80737538_80924051 | 80863884 | T | TACATATG others(229): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0034 | 1 | 244 | 0.0041 | 236 | c.104 others(255): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
| SGCD_chr5_156322164_156772788 | 156549148 | A | ATTTTTTT others(229): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0030 | 1 | 150 | 0.0067 | 236 | c.295 others(255): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SHANK1_chr19_50654255_50724802 | 50678994 | G | GTGGGGAG others(229): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0135 | 1 | 316 | 0.0032 | 236 | c.257 others(255): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 431544 | C | CAGATAGA others(229): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 212 | 0.0047 | 236 | c.111 others(253): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| SHISA9_chr16_12896598_13245416 | 13015951 | T | TTTCCCTT others(229): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 214 | 0.0047 | 236 | c.691 others(255): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SIGIRR_chr11_400716_419999 | 401443 | C | CGGCCCCG others(229): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 242 | 0.0041 | 236 | c.*44 others(247): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4272 | chr11 | TogoVar | ||||||
| SINHCAF_chr12_31275584_31331150 | 31331093 | T | TTTTTCAT others(229): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 349 | 0.0029 | 236 | c.-50 others(247): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 4944 | chr12 | TogoVar | ||||||
| SLC23A3_chr2_219156465_219175029 | 219159588 | C | CATATATA others(229): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 434 | 0.0023 | 236 | c.*23 others(247): Show |
SLC23A3 | ENSG00000213901.11 | transcript | ENST00000409878.8 | protein_coding | 1876 | chr2 | TogoVar | ||||||
| SLC44A5_chr1_75197129_75616114 | 75280398 | T | TTATATAT others(229): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138a0001c0001t0001g0139 | 2 | 156 | 0.0128 | 236 | c.176 others(253): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
| SLC45A4_chr8_141202174_141313288 | 141203457 | A | AGAGAGGG others(229): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0164 | 1 | 188 | 0.0053 | 236 | c.*81 others(247): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3716 | chr8 | TogoVar | ||||||
| SLC45A4_chr8_141202174_141313288 | 141246484 | A | ATCAAGAT others(229): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0001 | a0002c0001t0039 | a0002c0001t0039g0056 | 1 | 188 | 0.0053 | 236 | c.241 others(253): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
| SLC45A4_chr8_141202174_141313288 | 141246484 | A | ATCAAGAT others(229): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02602.hp1 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0046a0002c0001t0001 | a0001c0004t0046g0167a0002c0001t0001g0078 | 2 | 188 | 0.0106 | 236 | c.241 others(253): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
| SLC45A4_chr8_141202174_141313288 | 141246484 | A | ATCAAGAT others(229): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG00741.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0009others(5): Show | a0001c0003t0001a0001c0004t0004a0001c0009t0010others(5): Show | a0001c0003t0001g0038a0001c0003t0001g0051a0001c0004t0004g0058others(10): Show | 13 | 188 | 0.0692 | 236 | c.241 others(253): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
| SLC45A4_chr8_141202174_141313288 | 141246484 | A | ATCAAGAT others(229): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 HG02572.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0001a0003c0002others(1): Show | a0001c0003t0011a0002c0001t0001a0003c0002t0002others(1): Show | a0001c0003t0011g0161a0002c0001t0001g0095a0003c0002t0002g0023others(2): Show | 5 | 188 | 0.0266 | 236 | c.241 others(253): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
| SLC45A4_chr8_141202174_141313288 | 141246518 | G | GGTCTCCC others(229): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0004 | a0004c0007 | a0004c0007t0014 | a0004c0007t0014g0149 | 1 | 188 | 0.0053 | 236 | c.241 others(253): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
| SLC45A4_chr8_141202174_141313288 | 141246518 | G | GGTCTCCC others(229): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02129.hp1 HG02300.hp2 others(1): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0003c0002 | a0001c0003t0003a0001c0003t0045a0002c0001t0001others(1): Show | a0001c0003t0003g0171a0001c0003t0045g0180a0002c0001t0001g0153others(1): Show | 4 | 188 | 0.0213 | 236 | c.241 others(253): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
| SLC45A4_chr8_141202174_141313288 | 141246518 | G | GGTCTCCC others(229): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02055.hp2 |
a0001 | a0001c0003a0001c0016 | a0001c0003t0001a0001c0016t0016 | a0001c0003t0001g0020a0001c0016t0016g0001 | 3 | 188 | 0.0160 | 236 | c.241 others(253): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
| SLC8A1_chr2_40092270_40457090 | 40200230 | A | ATATAAAT others(229): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0037a0001c0001t0012g0038 | 2 | 236 | 0.0085 | 236 | c.180 others(257): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
| SNAPC4_chr9_136370571_136405170 | 136403298 | A | AGGGAGCA others(229): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 380 | 0.0026 | 236 | c.-31 others(247): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3129 | chr9 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1222051 | C | CTGCCTAT others(229): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 190 | 0.0053 | 236 | c.719 others(255): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNX12_chrX_71054247_71073334 | 71071604 | T | ATATATAT others(229): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 309 | 0.0032 | 236 | c.-32 others(247): Show |
SNX12 | ENSG00000147164.12 | transcript | ENST00000374274.8 | protein_coding | 3270 | chrX | TogoVar | ||||||
| SORCS2_chr4_7187538_7747827 | 7449233 | C | CCCTCCCT others(229): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0094 | 1 | 168 | 0.0060 | 236 | c.548 others(255): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SPADH_chr10_122667850_122684494 | 122680924 | A | ATGTGTGA others(229): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp2 others(12): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0007a0003c0003t0002g0017 | 15 | 414 | 0.0362 | 236 | c.*18 others(247): Show |
SPADH | ENSG00000286135.1 | transcript | ENST00000652090.1 | protein_coding | 1431 | chr10 | TogoVar | ||||||
| SPADH_chr10_122667850_122684494 | 122681810 | G | GTGTGTGA others(229): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp2 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0007a0003c0003t0002g0017 | 16 | 414 | 0.0387 | 236 | c.*27 others(247): Show |
SPADH | ENSG00000286135.1 | transcript | ENST00000652090.1 | protein_coding | 2317 | chr10 | TogoVar | ||||||
| SPADH_chr10_122667850_122684494 | 122681924 | T | TCTCGTGT others(229): Show |
downstream_gene_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0029 | 1 | 414 | 0.0024 | 236 | c.*28 others(247): Show |
SPADH | ENSG00000286135.1 | transcript | ENST00000652090.1 | protein_coding | 2431 | chr10 | TogoVar | ||||||
| SPAG16_chr2_213279464_214415501 | 213866585 | C | CAGCTAAA others(229): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 86 | 0.0116 | 236 | c.121 others(255): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPATA13_chr13_24155720_24312069 | 24190213 | T | TATAATGA others(229): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0087 | 1 | 356 | 0.0028 | 236 | c.-11 others(257): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(229): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 236 | c.*54 others(247): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar |