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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2orf80_chr2_208160347_208195030 | 208169269 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 342 | 0.0029 | 24 | c.573 others(41): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208177128 | T | TATATACC others(17): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 342 | 0.0029 | 24 | c.366 others(41): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
C2orf81_chr2_74409177_74426619 | 74415138 | A | ACGCGGAG others(17): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp1 HG00558.hp2 HG00597.hp2 others(101): Show |
a0002a0005a0007 | a0002c0003a0005c0007a0007c0009 | a0002c0003t0001a0005c0007t0001a0007c0009t0001 | a0002c0003t0001g0003a0002c0003t0001g0007a0002c0003t0001g0009others(35): Show | 104 | 402 | 0.2587 | 24 | c.101 others(33): Show |
p.Ala others(37): Show |
C2orf81 | ENSG00000284308.2 | transcript | ENST00000684111.1 | protein_coding | 3/3 | 1097/2059 | 1038/1848 | 346/615 | chr2 | TogoVar | ||
C3_chr19_6672704_6725650 | 6710025 | G | GAGGGAGA others(17): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 370 | 0.0027 | 24 | c.168 others(41): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 13/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6710028 | G | GGAGAGAG others(17): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 370 | 0.0027 | 24 | c.168 others(41): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 13/40 | chr19 | TogoVar | ||||||
C3orf20_chr3_14670141_14778036 | 14686193 | C | CGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0123a0001c0001t0004g0124 | 2 | 380 | 0.0053 | 24 | c.625 others(41): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf38_chr3_88144959_88162965 | 88162142 | G | GAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0006g0001 | 2 | 320 | 0.0063 | 24 | c.*55 others(35): Show |
C3orf38 | ENSG00000179021.10 | transcript | ENST00000318887.8 | protein_coding | 4178 | chr3 | TogoVar | ||||||
C3orf52_chr3_112081389_112123210 | 112085348 | A | ATGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006 | 1 | 372 | 0.0027 | 24 | c.-10 others(35): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 1040 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185079280 | C | CAAAAAAA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0103 | a0002c0002t0103g0237 | 1 | 388 | 0.0026 | 24 | c.*37 others(35): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2/2 | 3726 | chr3 | TogoVar | |||||
C3orf70_chr3_185071838_185158060 | 185085713 | G | GAGGTGGT others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03041.hp2 HG03098.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0115a0003c0004t0027 | a0001c0001t0115g0011a0003c0004t0027g0009a0003c0004t0027g0010others(1): Show | 4 | 388 | 0.0103 | 24 | c.197 others(41): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185091912 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0262 | 1 | 388 | 0.0026 | 24 | c.197 others(41): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf84_chr3_49172634_49196858 | 49194290 | G | GTATATAT others(17): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 NA19079.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0020 | 2 | 306 | 0.0065 | 24 | c.-25 others(35): Show |
C3orf84 | ENSG00000236980.10 | transcript | ENST00000545770.7 | protein_coding | 2433 | chr3 | TogoVar | ||||||
C3orf84_chr3_49172634_49196858 | 49194292 | G | GTATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 306 | 0.0033 | 24 | c.-25 others(35): Show |
C3orf84 | ENSG00000236980.10 | transcript | ENST00000545770.7 | protein_coding | 2435 | chr3 | TogoVar | ||||||
C3orf85_chr3_109131719_109156401 | 109137637 | G | GTGTGTAT others(17): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 370 | 0.0027 | 24 | c.49+ others(37): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C4BPB_chr1_207083860_207104993 | 207085615 | A | AATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 388 | 0.0026 | 24 | c.-33 others(35): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 3244 | chr1 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99506652 | G | GTCTTTCT others(17): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 HG03579.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0105a0003c0002t0001g0206 | 2 | 386 | 0.0052 | 24 | c.-47 others(35): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4368 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37508683 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp2 others(51): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0044a0001c0001t0001g0075a0001c0001t0001g0101others(51): Show | 54 | 354 | 0.1525 | 24 | c.-72 others(43): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0257a0001c0001t0002g0236 | 2 | 354 | 0.0057 | 24 | c.*57 others(35): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 HG04199.hp2 NA18966.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0046 | a0001c0001t0002g0027a0001c0001t0002g0254a0002c0002t0046g0171 | 3 | 354 | 0.0085 | 24 | c.*57 others(35): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00597.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0004 | a0001c0001t0002g0094a0001c0001t0002g0137a0001c0001t0002g0194others(3): Show | 6 | 354 | 0.0170 | 24 | c.*57 others(35): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0200a0001c0001t0002g0218a0001c0001t0003g0081 | 3 | 354 | 0.0085 | 24 | c.*57 others(35): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 354 | 0.0028 | 24 | c.*57 others(35): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37598078 | A | AATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02683.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0020a0001c0001t0025a0001c0006t0055 | a0001c0001t0020g0163a0001c0001t0020g0237a0001c0001t0025g0117others(1): Show | 4 | 354 | 0.0113 | 24 | c.*70 others(35): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 4569 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 158911347 | C | CAAATAAA others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 264 | 0.0038 | 24 | c.546 others(41): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 158930191 | G | GTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 264 | 0.0038 | 24 | c.357 others(43): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443320 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0231 | 1 | 358 | 0.0028 | 24 | c.715 others(41): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C5_chr9_120947335_121055275 | 121024290 | A | AGGGGAGG others(17): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 276 | 0.0036 | 24 | c.100 others(41): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 9/40 | chr9 | TogoVar | ||||||
C5orf34_chr5_43481709_43520148 | 43519819 | T | TTGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 NA18970.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0003 | a0001c0001t0001g0198a0002c0005t0003g0034 | 2 | 340 | 0.0059 | 24 | c.-50 others(35): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 4672 | chr5 | TogoVar | ||||||
C5orf47_chr5_173984170_174011140 | 173987021 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 382 | 0.0026 | 24 | c.-22 others(35): Show |
C5orf47 | ENSG00000185056.10 | transcript | ENST00000340147.7 | protein_coding | 2148 | chr5 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42109430 | C | CAAATAAA others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0021 | a0021c0055 | a0021c0055t0037 | a0021c0055t0037g0252 | 1 | 364 | 0.0028 | 24 | c.328 others(39): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
C6orf89_chr6_36880952_36933964 | 36921973 | A | AGCTATGA others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02132.hp1 HG03831.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0043 | a0001c0001t0002g0014a0001c0001t0002g0232a0001c0001t0002g0233others(7): Show | 12 | 396 | 0.0303 | 24 | c.950 others(41): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40918851 | G | GTATTGCA others(17): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 380 | 0.0026 | 24 | c.6+9 others(37): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40952478 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01243.hp2 HG02717.hp1 others(10): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0221a0001c0001t0002g0225a0001c0001t0003g0219others(10): Show | 13 | 380 | 0.0342 | 24 | c.109 others(43): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40978873 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0007 | a0007c0007 | a0007c0007t0007 | a0007c0007t0007g0038 | 1 | 380 | 0.0026 | 24 | c.216 others(41): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 1023624 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 326 | 0.0031 | 24 | c.130 others(43): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1101368 | G | GCTGCTGG others(17): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0293a0002c0002t0003g0288 | 2 | 326 | 0.0061 | 24 | c.129 others(43): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1136511 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0297 | 1 | 326 | 0.0031 | 24 | c.-2+ others(37): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051795 | T | TTTCTTTC others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02083.hp1 NA18970.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0004a0002c0001t0002a0002c0001t0004 | a0001c0002t0004g0067a0002c0001t0002g0277a0002c0001t0002g0304others(1): Show | 4 | 404 | 0.0099 | 24 | c.606 others(39): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48051809 | T | TCCTTTTC others(17): Show |
intron_variant | MODIFIER | HG00597.hp1 HG03669.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0332a0002c0001t0002g0337 | 2 | 404 | 0.0050 | 24 | c.606 others(39): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | chr7 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56882978 | A | ACAAGGCC others(17): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02976.hp1 HG03041.hp2 others(1): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0003c0003t0002a0006c0006t0001 | a0001c0001t0001g0267a0001c0001t0001g0268a0003c0003t0002g0228others(1): Show | 4 | 366 | 0.0109 | 24 | c.655 others(39): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C8A_chr1_56849797_56923223 | 56885316 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02818.hp1 HG02965.hp2 others(1): Show |
a0003a0006a0017 | a0003c0003a0006c0006a0017c0020 | a0003c0003t0002a0006c0006t0001a0017c0020t0005 | a0003c0003t0002g0041a0006c0006t0001g0075a0017c0020t0005g0270 | 4 | 366 | 0.0109 | 24 | c.856 others(39): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68466738 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0004 | a0004c0017 | a0004c0017t0006 | a0004c0017t0006g0128 | 1 | 128 | 0.0078 | 24 | c.608 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03130.hp2 HG03540.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0006others(1): Show | a0001c0001t0001a0002c0003t0001a0003c0006t0001others(1): Show | a0001c0001t0001g0119a0002c0003t0001g0087a0003c0006t0001g0125others(1): Show | 4 | 128 | 0.0313 | 24 | c.608 others(41): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68578642 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0108a0001c0001t0004g0074 | 2 | 128 | 0.0156 | 24 | c.110 others(45): 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(17): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03098.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0083a0001c0001t0001g0119others(3): Show | 6 | 128 | 0.0469 | 24 | c.140 others(43): 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(17): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03209.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0118a0001c0002t0001g0079 | 2 | 128 | 0.0156 | 24 | c.140 others(43): 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(17): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01168.hp2 HG01243.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0032a0001c0001t0001g0047a0001c0001t0001g0066others(14): Show | 17 | 128 | 0.1328 | 24 | c.140 others(43): 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(17): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01106.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0050a0001c0001t0001g0163a0001c0001t0001g0164others(3): Show | 9 | 368 | 0.0245 | 24 | c.223 others(41): Show |
C8orf88 | ENSG00000253250.3 | transcript | ENST00000517562.3 | protein_coding | 4/5 | chr8 | TogoVar | ||||||
C9_chr5_39279140_39369495 | 39333554 | A | ATCTCCCT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0073others(2): Show | 5 | 394 | 0.0127 | 24 | c.477 others(41): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
C9_chr5_39279140_39369495 | 39359102 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0357 | 1 | 394 | 0.0025 | 24 | c.77+ others(39): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 1/10 | chr5 | TogoVar |