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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2orf50_chr2_11128128_11156317 | 11155121 | G | GGGGCGAG others(15): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(128): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(25): Show | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0008others(84): Show | 131 | 380 | 0.3447 | 22 | c.*11 others(35): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 3805 | chr2 | TogoVar | ||||||
C2orf69_chr2_199906293_199933273 | 199922029 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG02135.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0125a0001c0001t0001g0143others(1): Show | 6 | 412 | 0.0146 | 22 | c.334 others(39): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf69_chr2_199906293_199933273 | 199922031 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG01975.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0099a0001c0001t0001g0115a0001c0001t0003g0167others(9): Show | 17 | 412 | 0.0413 | 22 | c.334 others(39): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf72_chr2_231032523_231054719 | 231044945 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0083 | 1 | 460 | 0.0022 | 22 | c.749 others(39): Show |
C2orf72 | ENSG00000204128.6 | transcript | ENST00000373640.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73810969 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0187 | 1 | 212 | 0.0047 | 22 | c.98- others(37): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208169269 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01516.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016a0001c0001t0001g0294a0001c0001t0002g0219 | 3 | 342 | 0.0088 | 22 | c.573 others(39): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf88_chr2_190175863_190208484 | 190192452 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03486.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0292a0002c0002t0008g0293 | 2 | 420 | 0.0048 | 22 | c.-16 others(41): Show |
C2orf88 | ENSG00000187699.10 | transcript | ENST00000340623.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C3AR1_chr12_8051844_8071359 | 8067236 | T | TTCTTTTA others(15): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 22 | c.-97 others(31): Show |
C3AR1 | ENSG00000171860.5 | transcript | ENST00000307637.5 | protein_coding | 878 | chr12 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6709991 | A | AAGGGAGA others(15): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(96): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0001c0007others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0026a0001c0001t0001g0027others(93): Show | 99 | 370 | 0.2676 | 22 | c.168 others(39): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 13/40 | chr19 | TogoVar | ||||||
C3orf20_chr3_14670141_14778036 | 14732871 | T | TTATATTA others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(131): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(12): Show | a0001c0001t0001g0027a0001c0001t0001g0321a0002c0002t0001g0141others(129): Show | 134 | 380 | 0.3526 | 22 | c.194 others(41): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf33_chr3_155757617_155811278 | 155800610 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0160 | 1 | 406 | 0.0025 | 22 | c.174 others(39): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185073970 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG02056.hp2 HG02074.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0295a0001c0001t0001g0296a0001c0001t0001g0303others(12): Show | 15 | 388 | 0.0387 | 22 | c.*90 others(33): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2867 | chr3 | TogoVar | ||||||
C3orf80_chr3_160220422_160233213 | 160223765 | T | TAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01433.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 6 | 410 | 0.0146 | 22 | c.-18 others(33): Show |
C3orf80 | ENSG00000180044.6 | transcript | ENST00000326474.5 | protein_coding | 1656 | chr3 | TogoVar | ||||||
C3orf84_chr3_49172634_49196858 | 49194292 | G | GTATATAT others(15): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 306 | 0.0033 | 22 | c.-25 others(33): Show |
C3orf84 | ENSG00000236980.10 | transcript | ENST00000545770.7 | protein_coding | 2435 | chr3 | TogoVar | ||||||
C3orf85_chr3_109131719_109156401 | 109137637 | G | GTGTGTAT others(15): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 370 | 0.0027 | 22 | c.49+ others(35): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C4A_chr6_31977057_32007681 | 31982258 | A | AGGTGTCA others(15): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0104 | 1 | 322 | 0.0031 | 22 | c.66- others(33): Show |
C4A | ENSG00000244731.10 | transcript | ENST00000428956.7 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37508683 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02109.hp1 HG02738.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0156a0001c0001t0001g0187a0001c0001t0003g0072others(3): Show | 6 | 354 | 0.0170 | 22 | c.-72 others(41): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37596709 | C | CATATATA others(15): Show |
downstream_gene_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0256 | 1 | 354 | 0.0028 | 22 | c.*57 others(33): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3200 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0289 | 1 | 354 | 0.0028 | 22 | c.*57 others(33): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 NA18941.hp1 NA18971.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0004a0002c0002t0008 | a0001c0001t0007g0249a0002c0002t0004g0167a0002c0002t0004g0214others(3): Show | 6 | 354 | 0.0170 | 22 | c.*57 others(33): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 354 | 0.0028 | 22 | c.*57 others(33): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0159 | 1 | 354 | 0.0028 | 22 | c.*57 others(33): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf33_chr4_129091152_129121637 | 129115801 | A | AATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0096 | 1 | 396 | 0.0025 | 22 | c.*40 others(33): Show |
C4orf33 | ENSG00000151470.13 | transcript | ENST00000425929.6 | protein_coding | 6/6 | 4040 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
C4orf33_chr4_129091152_129121637 | 129115818 | A | ATATAATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0090 | 1 | 396 | 0.0025 | 22 | c.*40 others(33): Show |
C4orf33 | ENSG00000151470.13 | transcript | ENST00000425929.6 | protein_coding | 6/6 | 4032 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 358 | 0.0028 | 22 | c.715 others(39): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 358 | 0.0028 | 22 | c.715 others(39): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf50_chr4_5954375_6023431 | 6019540 | T | TGGAGGCA others(15): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG03139.hp2 HG03831.hp1 others(2): Show |
a0001a0032a0066others(2): Show | a0001c0001a0032c0034a0066c0066others(2): Show | a0001c0001t0000a0032c0034t0000a0066c0066t0000others(2): Show | a0001c0001t0000g0015a0032c0034t0000g0016a0066c0066t0000g0017others(2): Show | 5 | 346 | 0.0145 | 22 | c.-11 others(33): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 1110 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99643792 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01496.hp2 |
a0002 | a0002c0002a0002c0028 | a0002c0002t0001a0002c0028t0001 | a0002c0002t0001g0218a0002c0028t0001g0200 | 2 | 392 | 0.0051 | 22 | c.*37 others(39): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99648554 | A | AGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03927.hp1 NA19043.hp2 |
a0005 | a0005c0005 | a0005c0005t0005a0005c0005t0014a0005c0005t0029 | a0005c0005t0005g0096a0005c0005t0014g0097a0005c0005t0029g0095 | 3 | 392 | 0.0077 | 22 | c.*36 others(37): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C5orf34_chr5_43481709_43520148 | 43519819 | T | TTGTGTGT others(15): Show |
upstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 340 | 0.0029 | 22 | c.-50 others(33): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 4672 | chr5 | TogoVar | ||||||
C5orf46_chr5_147887722_147911538 | 147908963 | C | CACACAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 NA18522.hp1 NA18906.hp2 |
a0002a0003 | a0002c0003a0003c0002 | a0002c0003t0001a0003c0002t0001 | a0002c0003t0001g0013a0002c0003t0001g0080a0003c0002t0001g0090 | 3 | 452 | 0.0066 | 22 | c.-24 others(33): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 2426 | chr5 | TogoVar | ||||||
C6orf120_chr6_169697126_169711360 | 169701916 | G | GGACTCAC others(15): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0028a0001c0001t0030 | a0001c0001t0004g0000a0001c0001t0028g0000a0001c0001t0030g0000 | 17 | 416 | 0.0409 | 22 | c.-54 others(31): Show |
C6orf120 | ENSG00000185127.7 | transcript | ENST00000332290.4 | protein_coding | 209 | chr6 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42119248 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0003 | a0003c0003t0013 | a0003c0003t0013g0326 | 1 | 364 | 0.0028 | 22 | c.253 others(39): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42138850 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02083.hp1 |
a0002a0026 | a0002c0002a0026c0053 | a0002c0002t0002a0026c0053t0051 | a0002c0002t0002g0070a0026c0053t0051g0069 | 2 | 364 | 0.0055 | 22 | c.145 others(39): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1135930 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0291 | 1 | 326 | 0.0031 | 22 | c.-2+ others(37): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56885424 | T | TTACGTAA others(15): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0055 | 1 | 366 | 0.0027 | 22 | c.856 others(37): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C8B_chr1_56924207_56971015 | 56965398 | A | AGAGAGTG others(15): Show |
intron_variant | MODIFIER | NA18939.hp1 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075a0001c0001t0002g0076 | 2 | 402 | 0.0050 | 22 | c.92+ others(35): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
C8orf33_chr8_145047467_145061030 | 145052285 | C | CCGCCCGC others(15): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 406 | 0.0025 | 22 | c.-20 others(31): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 181 | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68332351 | T | TCCCGCCT others(15): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG01346.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(19): Show | 22 | 128 | 0.1719 | 22 | c.327 others(39): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68332355 | G | GCCTTGCC others(15): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0120 | 3 | 128 | 0.0234 | 22 | c.327 others(39): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68466738 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0104 | 1 | 128 | 0.0078 | 22 | c.608 others(39): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68466765 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0085 | 1 | 128 | 0.0078 | 22 | c.608 others(39): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68578642 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02965.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0004 | a0001c0001t0001g0003a0001c0014t0004g0008 | 2 | 128 | 0.0156 | 22 | c.110 others(43): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68774327 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01891.hp1 HG02258.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0003g0090a0001c0001t0004g0111a0001c0002t0001g0060others(2): Show | 5 | 128 | 0.0391 | 22 | c.140 others(41): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68774329 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 128 | 0.0078 | 22 | c.140 others(41): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68774944 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02965.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0002g0035 | 2 | 128 | 0.0156 | 22 | c.140 others(41): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf88_chr8_90953471_90990238 | 90968657 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG00741.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0087a0001c0001t0001g0150others(16): Show | 33 | 368 | 0.0897 | 22 | c.223 others(39): Show |
C8orf88 | ENSG00000253250.3 | transcript | ENST00000517562.3 | protein_coding | 4/5 | chr8 | TogoVar | ||||||
C9_chr5_39279140_39369495 | 39282106 | T | TTTTCTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00733.hp1 others(32): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0010t0001others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0022others(31): Show | 35 | 394 | 0.0888 | 22 | c.*30 others(33): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 2033 | chr5 | TogoVar | ||||||
C9_chr5_39279140_39369495 | 39282138 | T | TTTTCTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01081.hp1 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(48): Show | 52 | 394 | 0.1320 | 22 | c.*30 others(33): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 2001 | chr5 | TogoVar | ||||||
C9_chr5_39279140_39369495 | 39343896 | T | TGATACCC others(15): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01952.hp2 others(14): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(14): Show | 17 | 394 | 0.0432 | 22 | c.78- others(37): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 1/10 | chr5 | TogoVar |