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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C4orf45_chr4_158888134_159040229 | 158930191 | G | GTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03453.hp1 HG03516.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0023a0001c0001t0001g0051a0001c0001t0001g0099others(4): Show | 7 | 264 | 0.0265 | 14 | c.357 others(33): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 159017356 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03041.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0195a0001c0001t0001g0202 | 4 | 264 | 0.0152 | 14 | c.64+ others(31): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
C4orf46_chr4_158661675_158676887 | 158670023 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 2 | 370 | 0.0054 | 14 | c.187 others(29): Show |
C4orf46 | ENSG00000205208.5 | transcript | ENST00000379205.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
C4orf46_chr4_158661675_158676887 | 158670027 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01934.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0018a0001c0001t0002g0032a0001c0001t0003g0024 | 6 | 370 | 0.0162 | 14 | c.187 others(29): Show |
C4orf46 | ENSG00000205208.5 | transcript | ENST00000379205.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
C4orf46_chr4_158661675_158676887 | 158670028 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02074.hp2 HG02148.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0019a0001c0001t0002g0023a0001c0001t0003g0007others(2): Show | 13 | 370 | 0.0351 | 14 | c.187 others(29): Show |
C4orf46 | ENSG00000205208.5 | transcript | ENST00000379205.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01978.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0035a0001c0001t0001g0138a0001c0001t0001g0141others(6): Show | 9 | 358 | 0.0251 | 14 | c.715 others(31): 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(7): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01433.hp1 HG01517.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0100a0001c0001t0001g0149a0001c0001t0001g0150others(5): Show | 8 | 358 | 0.0224 | 14 | c.715 others(31): 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(7): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01516.hp1 HG02083.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0168a0001c0001t0001g0169others(2): Show | 5 | 358 | 0.0140 | 14 | c.715 others(31): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf50_chr4_5954375_6023431 | 5987412 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01943.hp1 NA18960.hp1 |
a0003a0040 | a0003c0004a0040c0031 | a0003c0004t0000a0040c0031t0000 | a0003c0004t0000g0269a0040c0031t0000g0232 | 2 | 346 | 0.0058 | 14 | c.369 others(31): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 6/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 5995474 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02004.hp1 |
a0008a0041 | a0008c0006a0041c0030 | a0008c0006t0000a0041c0030t0000 | a0008c0006t0000g0116a0041c0030t0000g0004 | 3 | 346 | 0.0087 | 14 | c.964 others(30): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004196 | G | GGTGATGG others(7): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp1 others(103): Show |
a0001a0002a0004others(27): Show | a0001c0001a0001c0084a0002c0002others(29): Show | a0001c0001t0000a0001c0084t0000a0002c0002t0000others(29): Show | a0001c0001t0000g0055a0001c0001t0000g0073a0001c0001t0000g0074others(102): Show | 106 | 346 | 0.3064 | 14 | c.963 others(31): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99643739 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 NA18960.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0161a0002c0002t0003g0211 | 2 | 392 | 0.0051 | 14 | c.*37 others(31): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99643792 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02083.hp2 NA18966.hp2 |
a0001a0015 | a0001c0001a0015c0017 | a0001c0001t0001a0001c0001t0004a0015c0017t0001 | a0001c0001t0001g0157a0001c0001t0004g0152a0015c0017t0001g0186 | 3 | 392 | 0.0077 | 14 | c.*37 others(31): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99643792 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150a0001c0001t0001g0156 | 2 | 392 | 0.0051 | 14 | c.*37 others(31): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99660485 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG02976.hp2 NA19240.hp2 |
a0006 | a0006c0008 | a0006c0008t0004 | a0006c0008t0004g0052a0006c0008t0004g0094a0006c0008t0004g0235 | 3 | 392 | 0.0077 | 14 | c.-30 others(25): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2658 | chr4 | TogoVar | ||||||
C5AR2_chr19_47327175_47352329 | 47335771 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02615.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0043a0002c0002t0047 | a0001c0001t0043g0051a0002c0002t0047g0070 | 2 | 406 | 0.0049 | 14 | c.-16 others(31): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
C5_chr9_120947335_121055275 | 121025419 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02559.hp2 HG02572.hp2 others(5): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0001a0003c0004t0001a0003c0004t0003 | a0003c0003t0001g0040a0003c0003t0001g0041a0003c0003t0001g0055others(5): Show | 8 | 276 | 0.0290 | 14 | c.100 others(29): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 9/40 | chr9 | TogoVar | ||||||
C5orf24_chr5_134840968_134864735 | 134850919 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 402 | 0.0025 | 14 | c.-3- others(29): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C5orf24_chr5_134840968_134864735 | 134850937 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03209.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0053a0001c0001t0005g0222 | 3 | 402 | 0.0075 | 14 | c.-3- others(29): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C5orf24_chr5_134840968_134864735 | 134850937 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0227 | 1 | 402 | 0.0025 | 14 | c.-3- others(29): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C5orf24_chr5_134840968_134864735 | 134855576 | T | TGTTTTTT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0087 | 1 | 402 | 0.0025 | 14 | c.*11 others(23): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 2/2 | 115 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
C5orf34_chr5_43481709_43520148 | 43519819 | T | TTGTGTGT others(7): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02129.hp2 HG02451.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0011a0002c0005t0003 | a0001c0001t0001g0017a0001c0001t0001g0191a0001c0001t0011g0179others(1): Show | 4 | 340 | 0.0118 | 14 | c.-50 others(25): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 4672 | chr5 | TogoVar | ||||||
C5orf47_chr5_173984170_174011140 | 173987021 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 382 | 0.0026 | 14 | c.-22 others(25): Show |
C5orf47 | ENSG00000185056.10 | transcript | ENST00000340147.7 | protein_coding | 2148 | chr5 | TogoVar | ||||||
C5orf58_chr5_170227985_170251231 | 170249362 | G | GTATATAT others(7): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 2 | 426 | 0.0047 | 14 | c.*32 others(25): Show |
C5orf58 | ENSG00000234511.11 | transcript | ENST00000593851.5 | protein_coding | 3132 | chr5 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42138848 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0003 | a0003c0003 | a0003c0003t0010 | a0003c0003t0010g0067 | 1 | 364 | 0.0028 | 14 | c.145 others(31): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42138850 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00673.hp1 others(31): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0016others(17): Show | a0001c0001t0001g0063a0001c0001t0001g0130a0001c0001t0001g0131others(31): Show | 34 | 364 | 0.0934 | 14 | c.145 others(31): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
C6orf62_chr6_24699861_24724154 | 24711239 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048 | 2 | 414 | 0.0048 | 14 | c.430 others(31): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
C6orf89_chr6_36880952_36933964 | 36901323 | T | TATTATTA others(7): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0185 | 1 | 396 | 0.0025 | 14 | c.190 others(29): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40918949 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03471.hp2 HG06807.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0005a0006c0006t0018 | a0001c0001t0005g0033a0001c0001t0005g0034a0001c0001t0005g0035others(2): Show | 5 | 380 | 0.0132 | 14 | c.6+9 others(27): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40922696 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0048 | 1 | 380 | 0.0026 | 14 | c.7-5 others(27): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40978873 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0157 | 1 | 380 | 0.0026 | 14 | c.216 others(31): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7orf33_chr7_148585766_148620860 | 148606933 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(96): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(92): Show | 99 | 444 | 0.2230 | 14 | c.205 others(31): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 1016372 | C | CCAGCGCA others(7): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0263 | 1 | 326 | 0.0031 | 14 | c.130 others(31): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1023624 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02572.hp1 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0028a0001c0001t0001g0058a0001c0001t0005g0287 | 3 | 326 | 0.0092 | 14 | c.130 others(33): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1059681 | C | CTTAGCGG others(7): Show |
intron_variant | MODIFIER | NA19079.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0180a0001c0001t0004g0182 | 2 | 326 | 0.0061 | 14 | c.130 others(33): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1136493 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0307 | 1 | 326 | 0.0031 | 14 | c.-2+ others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48031832 | G | GCACACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223a0001c0002t0001g0237 | 2 | 404 | 0.0050 | 14 | c.-39 others(25): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 3710 | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48037749 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(49): Show |
a0002a0005 | a0002c0001a0005c0008 | a0002c0001t0001a0002c0001t0002a0002c0001t0009others(1): Show | a0002c0001t0001g0336a0002c0001t0002g0032a0002c0001t0002g0033others(46): Show | 52 | 404 | 0.1287 | 14 | c.55+ others(29): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48037768 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0295 | 1 | 404 | 0.0025 | 14 | c.55+ others(29): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48038381 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18945.hp2 NA18990.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0034a0002c0001t0002g0346a0002c0001t0002g0347 | 4 | 404 | 0.0099 | 14 | c.55+ others(29): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48051347 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02258.hp2 others(6): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0024a0001c0002t0001g0223a0001c0002t0001g0231others(5): Show | 9 | 404 | 0.0223 | 14 | c.606 others(31): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48051877 | C | CCTTCCTT others(7): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0053 | 1 | 404 | 0.0025 | 14 | c.606 others(29): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | chr7 | TogoVar | ||||||
C8B_chr1_56924207_56971015 | 56965398 | A | AGAGAGTG others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01261.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0097a0001c0001t0002g0020 | 3 | 402 | 0.0075 | 14 | c.92+ others(27): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
C8B_chr1_56924207_56971015 | 56965398 | A | AGAGTGTG others(7): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 402 | 0.0025 | 14 | c.92+ others(27): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331783 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0085 | 1 | 128 | 0.0078 | 14 | c.327 others(29): 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(7): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0001 | a0001c0001t0001g0108a0001c0001t0001g0115a0001c0001t0001g0116others(2): Show | 5 | 128 | 0.0391 | 14 | c.608 others(31): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68466739 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02717.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0004a0003c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(3): Show | 6 | 128 | 0.0469 | 14 | c.608 others(31): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68485724 | A | AATAAATA others(7): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0073 | 1 | 128 | 0.0078 | 14 | c.737 others(31): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68774327 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG02895.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0115a0001c0001t0002g0035a0002c0003t0001g0027others(2): Show | 5 | 128 | 0.0391 | 14 | c.140 others(33): 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(7): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0111 | 1 | 128 | 0.0078 | 14 | c.140 others(33): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |