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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(367): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 354 | 0.0028 | 374 | c.-27 others(383): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PRB3_chr12_11260914_11274707 | 11267546 | T | TCCTCCTT others(367): Show |
frameshift_variant | HIGH | NA18944.hp2 NA19007.hp2 |
a0023 | a0023c0020 | a0023c0020t0001 | a0023c0020t0001g0026 | 2 | 443 | 0.0045 | 374 | c.702 others(381): Show |
p.Lys others(5): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 740/1227 | 702/1056 | 234/351 | chr12 | TogoVar | |||
RAB11FIP3_chr16_420649_528011 | 467916 | A | AGGGAAGT others(367): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0006 | a0001c0006t0058 | a0001c0006t0058g0111 | 1 | 295 | 0.0034 | 374 | c.809 others(391): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAD21L1_chr20_1221044_1260876 | 1259529 | A | AGATCTTC others(367): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 NA19001.hp2 NA19064.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0094 a0001c0001t0001g0130 a0002c0002t0002g0079 |
3 | 364 | 0.0082 | 374 | c.*50 others(385): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 3654 | chr20 | TogoVar | |||||||
RAD21L1_chr20_1221044_1260876 | 1259597 | T | TTCCCTCT others(367): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 NA20129.hp1 |
a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0076 a0007c0010t0002g0077 |
2 | 364 | 0.0055 | 374 | c.*51 others(385): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 3722 | chr20 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114120048 | C | CTCTCTCC others(367): Show |
intron_variant | MODIFIER | HG01361.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0065 a0001c0001t0005g0023 |
2 | 67 | 0.0299 | 374 | c.55+ others(391): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(367): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 318 | 0.0031 | 374 | c.*36 others(385): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8441930 | T | TCAATACA others(367): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0094 | 1 | 204 | 0.0049 | 374 | c.120 others(395): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 11/22 | chr1 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 240932689 | T | TAGTAGAG others(367): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 112 | 0.0089 | 374 | c.334 others(391): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 5/18 | chr1 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24881899 | T | TATAGATA others(367): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 426 | 0.0024 | 374 | c.*21 others(385): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 1979 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24881962 | C | CTAGATAG others(367): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 NA19086.hp2 |
a0001a0022 | a0001c0002a0022c0027 | a0001c0002t0001a0022c0027t0001 | a0001c0002t0001g0048 a0022c0027t0001g0108 |
2 | 426 | 0.0047 | 374 | c.*22 others(385): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2042 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24881962 | C | CTATATAG others(367): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 426 | 0.0024 | 374 | c.*22 others(385): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2042 | chr13 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80355600 | G | GGGGAAGA others(367): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0017 | a0017c0032 | a0017c0032t0016 | a0017c0032t0016g0275 | 1 | 292 | 0.0034 | 374 | c.108 others(395): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382277 | A | AGTGATGG others(367): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 HG04199.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 412 | 0.0073 | 374 | c.-48 others(385): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4825 | chr20 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750553 | A | ATATATCT others(367): Show |
intron_variant | MODIFIER | HG02040.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0142 |
2 | 172 | 0.0116 | 374 | c.242 others(391): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750664 | T | TATATCTA others(367): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0085 |
2 | 172 | 0.0116 | 374 | c.242 others(391): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(367): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18986.hp1 NA18988.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0035 a0001c0001t0002g0066 a0001c0001t0002g0067 others(1): Show |
4 | 396 | 0.0101 | 374 | c.807 others(391): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
RTP3_chr3_46492976_46505950 | 46494996 | C | CGGGAGGG others(367): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 426 | 0.0047 | 374 | c.-30 others(385): Show |
RTP3 | ENSG00000163825.5 | transcript | ENST00000296142.4 | protein_coding | 2979 | chr3 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1288347 | C | CCGTGTCT others(367): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0289 | 1 | 290 | 0.0035 | 374 | c.166 others(391): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243480604 | A | ATGGATGG others(367): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 189 | 0.0053 | 374 | c.198 others(393): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401641 | A | ACCCGGCC others(367): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0064 | 1 | 242 | 0.0041 | 374 | c.*42 others(385): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4074 | chr11 | TogoVar | |||||||
SIGLEC11_chr19_49943985_49966172 | 49944051 | T | TAAAAAAT others(367): Show |
downstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 452 | 0.0022 | 374 | c.*59 others(385): Show |
SIGLEC11 | ENSG00000161640.15 | transcript | ENST00000447370.6 | protein_coding | 4933 | chr19 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(367): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 314 | 0.0032 | 374 | c.209 others(391): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(367): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02083.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0214 a0003c0005t0001g0219 |
2 | 314 | 0.0064 | 374 | c.209 others(391): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SLC35F1_chr6_117902264_118322671 | 117923680 | T | TATGTACA others(367): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0158 | 1 | 182 | 0.0055 | 374 | c.173 others(393): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79916262 | A | AGTGCTCC others(367): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0271 | 1 | 352 | 0.0028 | 374 | c.608 others(391): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 5/5 | chr18 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501102 | A | ATTATAAT others(367): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 340 | 0.0029 | 374 | c.*17 others(393): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501102 | A | ATTATAAT others(367): Show |
intron_variant | MODIFIER | NA19011.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0220 a0001c0001t0004g0173 |
2 | 340 | 0.0059 | 374 | c.*17 others(393): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827261 | A | AAATATAT others(367): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 302 | 0.0033 | 374 | c.12+ others(389): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190020 | C | CATATAAT others(367): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18984.hp2 NA19000.hp1 others(1): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0017a0001c0006t0012a0001c0006t0014 | a0001c0003t0017g0308 a0001c0006t0012g0307 a0001c0006t0012g0310 others(1): Show |
4 | 356 | 0.0112 | 374 | c.-11 others(395): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190020 | C | CATATAAT others(367): Show |
intron_variant | MODIFIER | HG01081.hp1 NA18942.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0117a0001c0003t0016 | a0001c0002t0117g0309 a0001c0003t0016g0092 |
2 | 356 | 0.0056 | 374 | c.-11 others(395): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190182 | T | TATAATGA others(367): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01975.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0004 | a0001c0001t0011g0290 a0001c0003t0004g0189 |
2 | 356 | 0.0056 | 374 | c.-11 others(395): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(367): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0180 | 1 | 260 | 0.0039 | 374 | c.138 others(393): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SYCE3_chr22_50546112_50567919 | 50562307 | A | AGGGGTGA others(367): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 414 | 0.0024 | 374 | c.-1+ others(387): Show |
SYCE3 | ENSG00000217442.4 | transcript | ENST00000406915.4 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(367): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0145 | 1 | 276 | 0.0036 | 374 | c.-18 others(393): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(367): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01081.hp1 HG02738.hp2 others(4): Show |
a0001a0011 | a0001c0001a0001c0044a0011c0037 | a0001c0001t0001a0001c0001t0004a0001c0044t0001others(1): Show | a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 others(4): Show |
7 | 314 | 0.0223 | 374 | c.309 others(393): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(367): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 314 | 0.0032 | 374 | c.309 others(393): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(367): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 314 | 0.0032 | 374 | c.309 others(393): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(367): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 314 | 0.0032 | 374 | c.309 others(393): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(367): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0026 | a0026c0038 | a0026c0038t0001 | a0026c0038t0001g0030 | 1 | 314 | 0.0032 | 374 | c.309 others(393): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(367): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 314 | 0.0032 | 374 | c.309 others(393): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(367): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0312 | 1 | 314 | 0.0032 | 374 | c.309 others(393): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(367): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0014 | 1 | 314 | 0.0032 | 374 | c.309 others(393): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(367): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 314 | 0.0032 | 374 | c.309 others(393): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(367): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0030 | a0030c0030 | a0030c0030t0001 | a0030c0030t0001g0022 | 1 | 314 | 0.0032 | 374 | c.309 others(393): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(367): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 314 | 0.0032 | 374 | c.309 others(393): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 47128187 | C | CTCCCCTC others(367): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 112 | 0.0089 | 374 | c.142 others(395): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | chr22 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82765367 | C | CTGTGTGC others(367): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(74): Show |
a0001a0002a0007others(5): Show | a0001c0001a0001c0002a0001c0014others(10): Show | a0001c0001t0002a0001c0001t0026a0001c0001t0028others(18): Show | a0001c0001t0002g0223 a0001c0001t0002g0301 a0001c0001t0002g0304 others(74): Show |
77 | 318 | 0.2421 | 374 | c.334 others(389): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235412166 | C | CCCTCCCC others(367): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02523.hp1 NA18943.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 others(2): Show |
5 | 268 | 0.0187 | 374 | c.186 others(391): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235412166 | C | CCCTCCCC others(367): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 268 | 0.0037 | 374 | c.186 others(391): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |