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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C4orf50_chr4_5954375_6023431 | 6003665 | GTGATGGT others(11): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02683.hp2 others(8): Show |
a0015a0018a0036others(5): Show | a0015c0018a0018c0016a0036c0039others(5): Show | a0015c0018t0001a0018c0016t0001a0036c0039t0001others(5): Show | a0015c0018t0001g0284 a0018c0016t0001g0210 a0018c0016t0001g0276 others(8): Show |
11 | 344 | 0.0320 | -18 | c.963 others(35): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C5orf22_chr5_31527301_31560053 | 31529722 | CAAAAAAA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0123 | 1 | 401 | 0.0025 | -18 | c.-26 others(29): Show |
C5orf22 | ENSG00000082213.18 | transcript | ENST00000325366.14 | protein_coding | 2578 | chr5 | TogoVar | |||||||
C5orf24_chr5_134840968_134864735 | 134855396 | CCTATGAT others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG02015.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0005 | 1 | 400 | 0.0025 | -18 | c.498 others(25): Show |
p.Met others(13): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 2/2 | 746/5083 | 498/567 | 166/188 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
C5orf34_chr5_43481709_43520148 | 43512760 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp2 HG01943.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0004t0001a0001c0008t0001 | a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0152 others(4): Show |
11 | 12 | 0.9167 | -18 | c.-37 others(35): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
C5orf46_chr5_147887722_147911538 | 147911316 | GACCACCA others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(89): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 others(35): Show |
92 | 166 | 0.5542 | -18 | c.-48 others(29): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 4779 | chr5 | TogoVar | |||||||
C5orf63_chr5_127046304_127078502 | 127048246 | GACACACA others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 104 | 0.0096 | -18 | c.*35 others(29): Show |
C5orf63 | ENSG00000164241.14 | transcript | ENST00000296662.10 | protein_coding | 3057 | chr5 | TogoVar | |||||||
C6orf120_chr6_169697126_169711360 | 169706727 | TACACACA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0025a0001c0001t0028others(3): Show | a0001c0001t0004g0000 a0001c0001t0025g0000 a0001c0001t0028g0000 others(3): Show |
42 | 76 | 0.5526 | -18 | c.*36 others(29): Show |
C6orf120 | ENSG00000185127.7 | transcript | ENST00000332290.4 | protein_coding | 368 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42123454 | AAGGAGAA others(11): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02523.hp1 NA19091.hp1 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0002a0003c0004t0004 | a0002c0002t0002g0264 a0002c0002t0002g0265 a0003c0004t0004g0261 |
3 | 362 | 0.0083 | -18 | c.252 others(35): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42123463 | GAGAAGAA others(11): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01106.hp1 HG01168.hp1 others(18): Show |
a0003a0012a0015 | a0003c0004a0003c0009a0012c0024others(1): Show | a0003c0004t0004a0003c0004t0011a0003c0004t0031others(7): Show | a0003c0004t0004g0086 a0003c0004t0004g0096 a0003c0004t0004g0098 others(17): Show |
21 | 362 | 0.0580 | -18 | c.252 others(35): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
C6orf136_chr6_30642133_30658207 | 30652239 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02976.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 2 | 36 | 0.0556 | -18 | c.130 others(35): Show |
C6orf136 | ENSG00000204564.12 | transcript | ENST00000651131.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C6orf62_chr6_24699861_24724154 | 24710359 | GGGTTCAA others(11): Show |
G | intron_variant | MODIFIER | HG00673.hp1 NA18954.hp1 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 3 | 412 | 0.0073 | -18 | c.430 others(35): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
C7_chr5_40904497_40989643 | 40945875 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01361.hp2 others(34): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0066 a0001c0001t0001g0251 a0001c0001t0001g0252 others(33): Show |
37 | 69 | 0.5362 | -18 | c.738 others(33): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40964020 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG04228.hp1 NA20905.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0163 a0002c0002t0002g0178 |
2 | 22 | 0.0909 | -18 | c.175 others(35): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40968586 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01975.hp2 others(16): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0010others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0233 others(15): Show |
19 | 314 | 0.0605 | -18 | c.188 others(37): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40968588 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA19002.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0311 | 1 | 335 | 0.0030 | -18 | c.188 others(37): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598747 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0350 | 1 | 437 | 0.0023 | -18 | c.204 others(35): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598749 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0352 | 1 | 434 | 0.0023 | -18 | c.204 others(35): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598753 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02976.hp1 HG03139.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0005 | a0001c0001t0001g0390 a0001c0001t0002g0341 a0002c0002t0005g0392 |
3 | 424 | 0.0071 | -18 | c.204 others(35): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598755 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG03098.hp2 NA18999.hp1 NA19012.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0005 | a0001c0001t0001g0196 a0001c0001t0002g0363 a0002c0002t0005g0391 |
3 | 410 | 0.0073 | -18 | c.204 others(35): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598757 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 NA18906.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0244 a0001c0001t0002g0163 a0001c0001t0002g0195 others(2): Show |
5 | 399 | 0.0125 | -18 | c.204 others(35): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598759 | TATATAGA others(11): Show |
T | intron_variant | MODIFIER | HG02165.hp1 HG02572.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0001g0096 a0001c0001t0001g0154 others(2): Show |
5 | 373 | 0.0134 | -18 | c.204 others(35): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598761 | TATAGAGA others(11): Show |
T | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 370 | 0.0027 | -18 | c.204 others(35): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1001838 | GGGAGTCC others(11): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0085 |
2 | 323 | 0.0062 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1001938 | GGGAGTCC others(11): Show |
G | intron_variant | MODIFIER | HG02280.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0119 a0001c0001t0010g0133 |
2 | 321 | 0.0062 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1002204 | TGGGTGAG others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(119): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0009others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0003g0323 others(119): Show |
122 | 323 | 0.3777 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1002432 | GGGAGTCC others(11): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0274 | 1 | 324 | 0.0031 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1002523 | TCCTGTGG others(11): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01934.hp1 HG02083.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 others(28): Show |
31 | 323 | 0.0960 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1002559 | TCCTGCGG others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(161): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0009others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0216 others(161): Show |
164 | 324 | 0.5062 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1002582 | CGGGTGAG others(11): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02080.hp2 NA18952.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 a0001c0001t0002g0271 a0001c0001t0002g0280 others(1): Show |
4 | 324 | 0.0123 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1002686 | CGGGTGAG others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01071.hp2 others(103): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0003g0290 others(103): Show |
106 | 324 | 0.3272 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1003240 | GGGAGTCC others(11): Show |
G | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0193 | 1 | 291 | 0.0034 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1003250 | TGGGTGAG others(11): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00621.hp1 others(165): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0009a0004c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0100 others(165): Show |
168 | 319 | 0.5266 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1003286 | CGGGTGAG others(11): Show |
C | intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 310 | 0.0032 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1003286 | CGGGTGAG others(11): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01255.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0014others(1): Show | a0001c0001t0002g0254 a0001c0001t0013g0016 a0001c0001t0014g0172 others(3): Show |
6 | 315 | 0.0190 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1003362 | GGGAGTCC others(11): Show |
G | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0193 | 1 | 310 | 0.0032 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1004796 | AGCAGACA others(11): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 324 | 0.0031 | -18 | c.324 others(35): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1023624 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0006g0081 a0001c0001t0006g0083 a0001c0001t0006g0087 others(17): Show |
20 | 57 | 0.3509 | -18 | c.130 others(37): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68331783 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02622.hp1 NA19007.hp1 NA19009.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0083 a0001c0001t0002g0080 a0001c0001t0002g0081 others(2): Show |
5 | 11 | 0.4545 | -18 | c.327 others(33): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68603523 | ATCTATCT others(11): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03516.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0005 | a0002c0003t0001g0036 a0002c0003t0005g0040 |
2 | 126 | 0.0159 | -18 | c.110 others(39): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf58_chr8_22594599_22609142 | 22596755 | CTCTGGGG others(11): Show |
C | upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007 | 1 | 330 | 0.0030 | -18 | c.-29 others(29): Show |
C8orf58 | ENSG00000241852.11 | transcript | ENST00000289989.10 | protein_coding | 2843 | chr8 | TogoVar | |||||||
C8orf74_chr8_10667628_10705590 | 10698901 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 41 | 0.0244 | -18 | c.648 others(33): Show |
C8orf74 | ENSG00000171060.11 | transcript | ENST00000304519.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C9_chr5_39279140_39369495 | 39345945 | AGAAATAA others(11): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0007 | a0007c0008 | a0007c0008t0007 | a0007c0008t0007g0063 | 1 | 392 | 0.0026 | -18 | c.78- others(33): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
C9orf50_chr9_129607225_129626101 | 129610207 | GAGGGAGG others(11): Show |
G | downstream_gene_variant | MODIFIER | NA19075.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 408 | 0.0025 | -18 | c.*21 others(29): Show |
C9orf50 | ENSG00000179058.8 | transcript | ENST00000372478.5 | protein_coding | 2017 | chr9 | TogoVar | |||||||
C9orf72_chr9_27541546_27578481 | 27573991 | ACCTTAAT others(11): Show |
A | upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0246 | 1 | 436 | 0.0023 | -18 | c.-62 others(27): Show |
C9orf72 | ENSG00000147894.17 | transcript | ENST00000380003.8 | protein_coding | 511 | chr9 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51666557 | ACTGCCTG others(11): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0022 |
2 | 154 | 0.0130 | -18 | c.466 others(37): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51717829 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02723.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0005g0001 |
3 | 70 | 0.0429 | -18 | c.465 others(37): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51718211 | TATGAAAA others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(100): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0017 others(100): Show |
103 | 154 | 0.6688 | -18 | c.465 others(37): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51754400 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02559.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0122 a0001c0002t0001g0078 a0001c0002t0001g0079 |
3 | 11 | 0.2727 | -18 | c.280 others(35): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51765707 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0108 a0001c0001t0004g0009 a0001c0001t0004g0147 others(2): Show |
5 | 154 | 0.0325 | -18 | c.280 others(37): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51831667 | AAGCAGCA others(11): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0053 a0001c0001t0006g0002 |
2 | 38 | 0.0526 | -18 | c.280 others(37): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar |