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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A2_chr13_110302284_110518209 | 110385795 | G | GTGGATAG others(185): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02027.hp2 |
a0001a0009 | a0001c0005a0009c0032 | a0001c0005t0001a0009c0032t0003 | a0001c0005t0001g0362 a0009c0032t0003g0123 |
2 | 312 | 0.0064 | 192 | c.180 others(211): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825106 | A | AGGGAGGG others(185): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0244 | 1 | 348 | 0.0029 | 192 | c.630 others(207): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3592283 | C | CGGAGAGG others(185): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 323 | 0.0031 | 192 | c.-29 others(203): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2828 | chr2 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131792623 | A | ATATATAT others(185): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 74 | 0.0135 | 192 | c.181 others(211): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587330 | G | GCCCCGCC others(185): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0280 | 1 | 117 | 0.0085 | 192 | c.927 others(207): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587330 | G | GCCCCGCC others(185): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03195.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0005a0001c0007t0006 | a0001c0002t0005g0158 a0001c0007t0006g0162 |
2 | 118 | 0.0169 | 192 | c.927 others(207): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587330 | G | GCCCCGCC others(185): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 117 | 0.0085 | 192 | c.927 others(207): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20955479 | G | GATATATA others(185): Show |
downstream_gene_variant | MODIFIER | NA18949.hp2 NA18970.hp2 NA18974.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0003 a0001c0001t0003g0071 a0001c0001t0003g0090 others(2): Show |
5 | 290 | 0.0172 | 192 | c.*56 others(203): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1733 | chr22 | TogoVar | |||||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(185): Show |
downstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 156 | 0.0064 | 192 | c.*56 others(203): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | |||||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(185): Show |
downstream_gene_variant | MODIFIER | NA18971.hp2 NA18984.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0282 |
3 | 158 | 0.0190 | 192 | c.*56 others(203): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | |||||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(185): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 156 | 0.0064 | 192 | c.*56 others(203): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240923662 | T | TCCCCCAC others(185): Show |
intron_variant | MODIFIER | HG02738.hp2 HG02965.hp1 HG03017.hp2 others(3): Show |
a0001a0002a0040 | a0001c0001a0002c0002a0002c0011others(1): Show | a0001c0001t0004a0002c0002t0002a0002c0011t0002others(1): Show | a0001c0001t0004g0307 a0001c0001t0004g0314 a0001c0001t0004g0346 others(3): Show |
6 | 209 | 0.0287 | 192 | c.488 others(209): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240923662 | T | TCCCCCAC others(185): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 204 | 0.0049 | 192 | c.488 others(209): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924289 | G | GCCCCCCA others(185): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0270 | 1 | 305 | 0.0033 | 192 | c.489 others(209): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33148534 | T | TAAAAATA others(185): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 339 | 0.0029 | 192 | c.28- others(207): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
CTDP1_chr18_79674803_79759503 | 79694120 | T | TCAGGGTG others(185): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0095 | 1 | 375 | 0.0027 | 192 | c.315 others(209): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3656157 | T | TTCCACCC others(185): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01891.hp2 others(22): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0010a0002c0002t0063others(1): Show | a0002c0002t0004g0001 a0002c0002t0004g0037 a0002c0002t0004g0109 others(9): Show |
25 | 158 | 0.1582 | 192 | c.462 others(207): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232110 | C | CCCACCAC others(185): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 393 | 0.0025 | 192 | c.513 others(209): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CYBC1_chr17_82437586_82455752 | 82443764 | G | GGCCACGG others(185): Show |
3_prime_UTR_variant | MODIFIER | NA18956.hp1 NA18967.hp2 NA18984.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0010 | 5 | 271 | 0.0185 | 192 | c.*48 others(200): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 7/7 | 239 | chr17 | TogoVar | ||||||
CYP4V2_chr4_186186567_186218463 | 186204370 | C | CGGCGGTG others(185): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0184 | 1 | 139 | 0.0072 | 192 | c.988 others(207): Show |
CYP4V2 | ENSG00000145476.16 | transcript | ENST00000378802.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DBNL_chr7_44039702_44074456 | 44043563 | A | ATGTGTGT others(185): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0026 | a0001c0002t0005g0002 a0001c0002t0026g0002 |
3 | 284 | 0.0106 | 192 | c.-11 others(203): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1138 | chr7 | TogoVar | |||||||
DBNL_chr7_44039702_44074456 | 44043563 | A | ATGTGTGT others(185): Show |
upstream_gene_variant | MODIFIER | NA18991.hp1 NA19086.hp1 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0041 | a0001c0002t0005g0002 a0001c0002t0041g0002 |
2 | 283 | 0.0071 | 192 | c.-11 others(203): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1138 | chr7 | TogoVar | |||||||
DBNL_chr7_44039702_44074456 | 44043563 | A | ATGTGTGT others(185): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 | 1 | 282 | 0.0035 | 192 | c.-11 others(203): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1138 | chr7 | TogoVar | |||||||
DBNL_chr7_44039702_44074456 | 44043563 | A | ATGTGTGT others(185): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0103 | 1 | 282 | 0.0035 | 192 | c.-11 others(203): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1138 | chr7 | TogoVar | |||||||
DBNL_chr7_44039702_44074456 | 44043563 | A | ATGTGTGT others(185): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 | 1 | 282 | 0.0035 | 192 | c.-11 others(203): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1138 | chr7 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 640064 | G | GTCCCTGC others(185): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 344 | 0.0029 | 192 | c.*44 others(203): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 4168 | chr11 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313788 | G | GCGCCGCC others(185): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 26 | 0.0385 | 192 | c.*27 others(203): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 795 | chr8 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 671463 | G | GCGCACGG others(185): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 24 | 0.0417 | 192 | c.85+ others(209): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1164213 | C | CGTCGTTT others(185): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0005 | 1 | 27 | 0.0370 | 192 | c.74- others(209): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1615795 | A | ATTAGAAT others(185): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03486.hp1 HG03486.hp2 |
a0001a0002 | a0001c0009a0002c0001 | a0001c0009t0012a0002c0001t0002a0002c0001t0005 | a0001c0009t0012g0006 a0002c0001t0002g0013 a0002c0001t0005g0035 |
3 | 30 | 0.1000 | 192 | c.144 others(213): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1615795 | A | ATTAGAAT others(185): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG01891.hp1 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0011others(3): Show | a0001c0002t0002a0001c0002t0022a0001c0003t0024others(7): Show | a0001c0002t0002g0022 a0001c0002t0022g0034 a0001c0003t0024g0003 others(7): Show |
10 | 37 | 0.2703 | 192 | c.144 others(213): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174573 | G | GATATATA others(185): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0012 | a0012c0007 | a0012c0007t0001 | a0012c0007t0001g0323 | 1 | 313 | 0.0032 | 192 | c.22- others(209): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157369968 | T | TTTCTTAA others(185): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01192.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0053 a0001c0001t0001g0106 a0001c0001t0001g0158 others(3): Show |
6 | 357 | 0.0168 | 192 | c.346 others(209): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 51015961 | A | ATGATATA others(185): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 108 | 0.0093 | 192 | c.316 others(211): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | chr3 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400712 | A | ACCACCAC others(185): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0021 | a0021c0126 | a0021c0126t0002 | a0021c0126t0002g0122 | 1 | 244 | 0.0041 | 192 | c.323 others(211): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400719 | C | CCACCACC others(185): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0010 | a0010c0154 | a0010c0154t0001 | a0010c0154t0001g0067 | 1 | 161 | 0.0062 | 192 | c.323 others(211): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83145181 | G | GTATATAT others(185): Show |
intron_variant | MODIFIER | HG03704.hp1 HG03942.hp1 NA18989.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 others(2): Show |
5 | 279 | 0.0179 | 192 | c.554 others(209): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 640064 | G | GTCCCTGC others(185): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 420 | 0.0024 | 192 | c.849 others(199): Show |
p.Pro others(205): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 886/1399 | 850/1260 | 284/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
DVL1_chr1_1330278_1354418 | 1350974 | C | CGGGGGGA others(185): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 340 | 0.0029 | 192 | c.-19 others(203): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 1557 | chr1 | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69990364 | C | CTAGCTAT others(185): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03139.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0138 a0001c0001t0001g0141 |
3 | 221 | 0.0136 | 192 | c.503 others(211): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377503 | T | TGTGTTCT others(185): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0257 | 1 | 366 | 0.0027 | 192 | c.215 others(209): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377595 | T | TGGAGGAA others(185): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0041 | 1 | 375 | 0.0027 | 192 | c.215 others(209): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377682 | G | GCTCCTGG others(185): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 263 | 0.0038 | 192 | c.215 others(209): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377693 | G | GCCGTGTT others(185): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 286 | 0.0035 | 192 | c.215 others(209): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377695 | T | TGTGTTCT others(185): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 240 | 0.0042 | 192 | c.215 others(209): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377695 | T | TGTGTTCT others(185): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 240 | 0.0042 | 192 | c.215 others(209): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377946 | G | GCTGTGTT others(185): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 261 | 0.0038 | 192 | c.215 others(209): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378076 | T | TGTGTTGT others(185): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 214 | 0.0047 | 192 | c.215 others(209): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084113 | T | TATTTACA others(185): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0300 | 1 | 278 | 0.0036 | 192 | c.221 others(211): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99927963 | G | GTGGTGGT others(185): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01346.hp2 others(7): Show |
a0001a0002a0003 | a0001c0004a0002c0001a0002c0006others(1): Show | a0001c0004t0003a0002c0001t0003a0002c0006t0003others(1): Show | a0001c0004t0003g0075 a0001c0004t0003g0122 a0001c0004t0003g0177 others(7): Show |
10 | 258 | 0.0388 | 192 | c.190 others(211): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |