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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TGM2_chr20_38122385_38170270 | 38124011 | T | TATAAAAT others(665): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0034 | 1 | 317 | 0.0032 | 672 | c.*62 others(683): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3373 | chr20 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161832 | A | ACACCCCT others(665): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 382 | 0.0026 | 672 | c.*24 others(683): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2096 | chr11 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115618 | A | AGCGAAGG others(665): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0102 | 1 | 188 | 0.0053 | 672 | c.227 others(691): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115660 | G | GGCGAAGG others(665): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0009 | 1 | 403 | 0.0025 | 672 | c.227 others(691): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115849 | G | GGCGAAGG others(665): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0243 | 1 | 402 | 0.0025 | 672 | c.227 others(691): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747551 | G | GCTGGGGT others(665): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 252 | 0.0040 | 672 | c.189 others(687): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747593 | G | GCTGGGGT others(665): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0019 | 1 | 260 | 0.0038 | 672 | c.189 others(687): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747613 | G | GCACTGGG others(665): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0155 | 1 | 268 | 0.0037 | 672 | c.189 others(687): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG00673.hp2 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(25): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0064 others(49): Show |
53 | 178 | 0.2978 | 672 | c.*54 others(683): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG02622.hp1 HG02717.hp2 others(8): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0015a0002c0003t0027a0002c0003t0100others(4): Show | a0002c0003t0015g0155 a0002c0003t0015g0158 a0002c0003t0027g0021 others(7): Show |
11 | 136 | 0.0809 | 672 | c.*54 others(683): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(665): Show |
downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0022 | 1 | 167 | 0.0060 | 672 | c.*54 others(683): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(665): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01167.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0061others(25): Show | a0001c0001t0002g0055 a0001c0001t0002g0147 a0001c0001t0002g0152 others(40): Show |
43 | 209 | 0.2057 | 672 | c.*54 others(683): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(665): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0110 | a0001c0001t0110g0119 | 1 | 167 | 0.0060 | 672 | c.*54 others(683): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(665): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0091a0001c0001t0092 | a0001c0001t0002g0139 a0001c0001t0002g0168 a0001c0001t0091g0169 others(1): Show |
4 | 170 | 0.0235 | 672 | c.*54 others(683): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373612 | A | AATGGCTC others(665): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 392 | 0.0026 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2920 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | NA18965.hp2 NA18994.hp2 NA19056.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0145 a0001c0002t0002g0158 |
3 | 4 | 0.7500 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0165 |
6 | 7 | 0.8571 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02630.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0004 | a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 others(4): Show |
7 | 8 | 0.8750 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 2 | 0.5000 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0046 a0001c0010t0001g0046 |
2 | 3 | 0.6667 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0124 a0001c0001t0008g0123 |
2 | 3 | 0.6667 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 2 | 0.5000 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0015 a0001c0001t0001g0092 a0001c0002t0001g0069 |
3 | 4 | 0.7500 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(142): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(78): Show |
145 | 146 | 0.9932 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 2 | 0.5000 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 HG03654.hp1 HG06807.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0121 others(1): Show |
6 | 7 | 0.8571 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG03516.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0002 | a0001c0001t0001g0090 a0001c0002t0002g0005 a0002c0003t0002g0039 others(2): Show |
5 | 6 | 0.8333 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG02257.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 a0001c0001t0002g0159 |
3 | 4 | 0.7500 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(665): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 a0001c0001t0002g0163 |
2 | 3 | 0.6667 | 672 | c.-32 others(683): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(665): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 10 | 0.1000 | 672 | c.-25 others(691): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TOLLIP_chr11_1269371_1314632 | 1287465 | G | GCCTCCCC others(665): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 260 | 0.0038 | 672 | c.519 others(689): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
TOLLIP_chr11_1269371_1314632 | 1287577 | C | CCCTCCCC others(665): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 263 | 0.0038 | 672 | c.519 others(689): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507402 | C | CATACGTA others(665): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0226 a0001c0001t0014g0229 |
2 | 372 | 0.0054 | 672 | c.-23 others(689): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(665): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 115 | 0.0087 | 672 | c.246 others(691): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(665): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 a0001c0001t0001g0271 |
2 | 116 | 0.0172 | 672 | c.246 others(691): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(665): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 115 | 0.0087 | 672 | c.246 others(691): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(665): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0036 | a0002c0036t0022 | a0002c0036t0022g0104 | 1 | 59 | 0.0169 | 672 | c.213 others(691): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133827600 | G | GCTACCGC others(665): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0001 | 1 | 169 | 0.0059 | 672 | c.449 others(689): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133828042 | C | CGCCCACT others(665): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0192 | 1 | 176 | 0.0057 | 672 | c.449 others(689): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7844449 | A | AGAGGTGG others(665): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG03453.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0004 a0002c0002t0002g0002 |
2 | 322 | 0.0062 | 672 | c.*43 others(681): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 307 | chrX | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159129212 | T | TGGGGACA others(665): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01255.hp1 HG02293.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 others(1): Show |
4 | 303 | 0.0132 | 672 | c.151 others(691): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(665): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 177 | 0.0056 | 672 | c.53+ others(687): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(666): Show |
intron_variant | MODIFIER | HG04199.hp1 HG04199.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0235 a0001c0003t0001g0169 |
2 | 210 | 0.0095 | 673 | c.49- others(688): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5305449 | T | TCCCACAC others(666): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0195 | 1 | 214 | 0.0047 | 673 | c.318 others(692): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111297 | C | CGCCACGG others(666): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0259 | 1 | 234 | 0.0043 | 673 | c.401 others(690): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111675 | C | CACCACGG others(666): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279 | 1 | 180 | 0.0056 | 673 | c.401 others(690): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111930 | C | CACAGACA others(666): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0320 | 1 | 364 | 0.0027 | 673 | c.401 others(690): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128514 | A | AGCTCCGA others(666): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 308 | 0.0032 | 673 | c.806 others(688): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(666): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01952.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 a0001c0002t0001g0109 |
2 | 146 | 0.0137 | 673 | c.298 others(690): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(666): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 145 | 0.0069 | 673 | c.298 others(690): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar |