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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP6R2_chr22_50338327_50450090 | 50351292 | G | GGCCTCCC others(730): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(55): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(15): Show | a0001c0001t0002g0078 a0001c0001t0006g0204 a0001c0001t0007g0096 others(55): Show |
58 | 264 | 0.2197 | 737 | c.-14 others(756): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50351292 | G | GGCCTCCC others(730): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0212 | 1 | 207 | 0.0048 | 737 | c.-14 others(756): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(730): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0070 | 1 | 199 | 0.0050 | 737 | c.-46 others(748): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6070181 | A | ATGGGATG others(730): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0303 a0001c0001t0005g0306 a0001c0001t0005g0307 |
3 | 289 | 0.0104 | 737 | c.-8- others(754): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341671 | G | GGAGGGTG others(730): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0204 | 1 | 16 | 0.0625 | 737 | c.188 others(756): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679076 | A | ATTTATTT others(730): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 299 | 0.0033 | 737 | c.-75 others(756): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 256143 | A | ATCCCTAG others(730): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 100 | 0.0100 | 737 | c.439 others(754): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(730): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0156 | 1 | 105 | 0.0095 | 737 | c.284 others(756): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(730): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 40 | 0.0250 | 737 | c.77- others(754): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(730): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 45 | 0.0222 | 737 | c.22+ others(754): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(730): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0012 | a0002c0012t0004 | a0002c0012t0004g0037 | 1 | 2 | 0.5000 | 737 | c.227 others(756): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377502 | C | CCCCACCC others(730): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 318 | 0.0031 | 737 | c.-15 others(748): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1477 | chr19 | TogoVar | |||||||
TMEM132C_chr12_128262170_128712911 | 128473334 | T | TCCAGCCT others(730): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG02451.hp1 others(7): Show |
a0003a0004a0007others(4): Show | a0003c0016a0003c0071a0004c0008others(7): Show | a0003c0016t0002a0003c0071t0002a0004c0008t0003others(7): Show | a0003c0016t0002g0015 a0003c0071t0002g0082 a0004c0008t0003g0010 others(7): Show |
10 | 11 | 0.9091 | 737 | c.974 others(756): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM132C_chr12_128262170_128712911 | 128473334 | T | TCCAGCCT others(730): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02257.hp1 others(5): Show |
a0002a0003a0008others(3): Show | a0002c0037a0002c0042a0002c0046others(5): Show | a0002c0037t0002a0002c0042t0009a0002c0046t0002others(5): Show | a0002c0037t0002g0022 a0002c0042t0009g0004 a0002c0046t0002g0118 others(5): Show |
8 | 9 | 0.8889 | 737 | c.974 others(756): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930756 | C | CAGGGGTT others(730): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 323 | 0.0031 | 737 | c.*48 others(748): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4613 | chr11 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273375 | A | ATATATAT others(730): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004 | 1 | 269 | 0.0037 | 737 | c.*29 others(748): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2262 | chr11 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142255935 | C | CCACCATC others(730): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0089 | 1 | 192 | 0.0052 | 737 | c.144 others(758): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(730): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 8 | 0.1250 | 737 | c.657 others(752): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028886 | A | ACCCCCAC others(730): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0199 | 1 | 169 | 0.0059 | 737 | c.225 others(756): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(730): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0097 | 1 | 24 | 0.0417 | 737 | c.82+ others(752): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292619 | G | GAGTCAGC others(730): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0381 | 1 | 388 | 0.0026 | 737 | c.339 others(754): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370953 | G | GTGATATA others(730): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG03041.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 3 | 327 | 0.0092 | 737 | c.-35 others(748): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3415 | chr10 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(730): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 a0001c0001t0002g0217 |
2 | 184 | 0.0109 | 737 | c.-42 others(748): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(730): Show |
upstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 183 | 0.0055 | 737 | c.-42 others(748): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(730): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 183 | 0.0055 | 737 | c.-42 others(748): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(730): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 183 | 0.0055 | 737 | c.-42 others(748): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1397492 | G | GAGGCTTC others(731): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0062 | 1 | 106 | 0.0094 | 738 | c.101 others(757): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(731): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0020 | a0020c0033 | a0020c0033t0048 | a0020c0033t0048g0089 | 1 | 7 | 0.1429 | 738 | c.775 others(753): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(731): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0087 | 1 | 7 | 0.1429 | 738 | c.775 others(753): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(731): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0018 | a0002c0018t0026 | a0002c0018t0026g0009 | 1 | 7 | 0.1429 | 738 | c.775 others(753): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
AGPAT2_chr9_136668143_136692457 | 136675470 | C | CAGCAGGG others(731): Show |
intron_variant | MODIFIER | NA18990.hp1 NA19005.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 3 | 339 | 0.0088 | 738 | c.589 others(753): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 4/5 | chr9 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(731): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 57 | 0.0175 | 738 | c.62+ others(751): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132759517 | A | ATATGATA others(731): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 319 | 0.0031 | 738 | c.181 others(755): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(731): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0284 | 1 | 110 | 0.0091 | 738 | c.352 others(755): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(731): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 134 | 0.0075 | 738 | c.838 others(753): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350015 | G | GGAAGGCA others(731): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 314 | 0.0032 | 738 | c.838 others(753): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350083 | G | GAGGGGAA others(731): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 248 | 0.0040 | 738 | c.838 others(753): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350155 | C | CAGGGGAA others(731): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 85 | 0.0118 | 738 | c.838 others(753): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(731): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 5 | 0.2000 | 738 | c.927 others(755): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(731): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 5 | 0.2000 | 738 | c.927 others(755): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(731): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0086 | 1 | 5 | 0.2000 | 738 | c.927 others(755): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(731): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 5 | 0.2000 | 738 | c.927 others(755): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(731): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01175.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 others(16): Show |
19 | 23 | 0.8261 | 738 | c.927 others(755): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(731): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02074.hp2 HG04204.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0172 others(4): Show |
7 | 11 | 0.6364 | 738 | c.927 others(755): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687405 | A | ACCCCGTG others(731): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0023 | 1 | 211 | 0.0047 | 738 | c.-18 others(749): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1560 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(731): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 146 | 0.0068 | 738 | c.-18 others(749): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004363 | A | ATGGTGAC others(731): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0020 | a0020c0056 | a0020c0056t0001 | a0020c0056t0001g0042 | 1 | 318 | 0.0031 | 738 | c.963 others(755): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(731): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0006 | a0006c0015 | a0006c0015t0030 | a0006c0015t0030g0112 | 1 | 151 | 0.0066 | 738 | c.63+ others(751): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(731): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0202 | 1 | 103 | 0.0097 | 738 | c.300 others(755): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803282 | T | TGGGGCCC others(731): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0018 | a0018c0033 | a0018c0033t0001 | a0018c0033t0001g0164 | 1 | 147 | 0.0068 | 738 | c.666 others(753): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |