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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C4orf47_chr4_185421254_185454826 | 185448864 | G | GCATAT | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00741.hp1 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(5): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 others(41): Show |
52 | 356 | 0.1461 | 5 | c.882 others(20): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 7/7 | chr4 | TogoVar | |||||||
C4orf48_chr4_2036995_2048964 | 2041150 | T | TGGGGG | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01071.hp2 others(44): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(3): Show |
47 | 282 | 0.1667 | 5 | c.-94 others(14): Show |
C4orf48 | ENSG00000243449.8 | transcript | ENST00000409248.10 | protein_coding | 844 | chr4 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 5964767 | C | CAAAAA | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02559.hp2 others(7): Show |
a0005a0022a0033others(6): Show | a0005c0005a0022c0022a0033c0036others(6): Show | a0005c0005t0001a0022c0022t0001a0033c0036t0001others(6): Show | a0005c0005t0001g0297 a0022c0022t0001g0068 a0033c0036t0001g0261 others(7): Show |
10 | 14 | 0.7143 | 5 | c.427 others(22): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 11/11 | chr4 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 5975495 | T | TTTTTG | intron_variant | MODIFIER | HG02055.hp1 HG02083.hp2 HG03471.hp2 others(2): Show |
a0003a0004a0010others(1): Show | a0003c0004a0004c0003a0010c0009others(1): Show | a0003c0004t0001a0004c0003t0001a0010c0009t0001others(1): Show | a0003c0004t0001g0254 a0004c0003t0001g0241 a0010c0009t0001g0161 others(2): Show |
5 | 91 | 0.0549 | 5 | c.392 others(22): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 8/11 | chr4 | TogoVar | |||||||
C4orf54_chr4_99631529_99662828 | 99660485 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG02040.hp1 others(6): Show |
a0001a0003a0014others(1): Show | a0001c0001a0003c0003a0014c0014others(1): Show | a0001c0001t0012a0001c0001t0013a0001c0001t0043others(3): Show | a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0013g0027 others(5): Show |
9 | 84 | 0.1071 | 5 | c.-30 others(16): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2658 | chr4 | TogoVar | |||||||
C5AR2_chr19_47327175_47352329 | 47327691 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(60): Show |
a0001 | a0001c0001a0001c0008a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(56): Show |
63 | 70 | 0.9000 | 5 | c.-46 others(16): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 4483 | chr19 | TogoVar | |||||||
C5AR2_chr19_47327175_47352329 | 47335771 | C | CAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00639.hp2 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0061 others(63): Show |
88 | 111 | 0.7928 | 5 | c.-16 others(22): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121041297 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(60): Show |
a0002a0003a0005others(2): Show | a0002c0002a0002c0026a0003c0003others(4): Show | a0002c0002t0001a0002c0026t0001a0003c0003t0001others(4): Show | a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 others(60): Show |
63 | 108 | 0.5833 | 5 | c.421 others(22): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 3/40 | chr9 | TogoVar | |||||||
C5orf15_chr5_133950510_133973625 | 133961232 | T | TAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01943.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0040 a0001c0001t0001g0081 a0001c0001t0001g0082 others(6): Show |
10 | 207 | 0.0483 | 5 | c.140 others(22): Show |
C5orf15 | ENSG00000113583.8 | transcript | ENST00000231512.5 | protein_coding | 1/2 | chr5 | TogoVar | |||||||
C5orf22_chr5_31527301_31560053 | 31556162 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01981.hp2 HG02145.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0005a0001c0001t0008a0002c0002t0010others(3): Show | a0001c0001t0005g0003 a0001c0001t0005g0025 a0001c0001t0005g0031 others(5): Show |
9 | 122 | 0.0738 | 5 | c.*32 others(16): Show |
C5orf22 | ENSG00000082213.18 | transcript | ENST00000325366.14 | protein_coding | 1110 | chr5 | TogoVar | |||||||
C5orf46_chr5_147887722_147911538 | 147907627 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02258.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0026 a0001c0001t0001g0106 a0001c0001t0001g0107 others(3): Show |
9 | 73 | 0.1233 | 5 | c.-11 others(16): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 1090 | chr5 | TogoVar | |||||||
C5orf46_chr5_147887722_147911538 | 147911208 | G | GTCTAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00597.hp2 others(60): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0003others(2): Show | a0001c0001t0001a0001c0006t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 others(25): Show |
63 | 135 | 0.4667 | 5 | c.-47 others(16): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 4671 | chr5 | TogoVar | |||||||
C5orf52_chr5_157666533_157685158 | 157673369 | T | TAAGAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(220): Show |
a0002a0003a0004others(3): Show | a0002c0002a0002c0009a0003c0003others(5): Show | a0002c0002t0001a0002c0009t0001a0003c0003t0001others(6): Show | a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0010 others(42): Show |
223 | 416 | 0.5361 | 5 | c.212 others(22): Show |
C5orf52 | ENSG00000187658.7 | transcript | ENST00000409999.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C6_chr5_41137116_41218532 | 41191067 | C | CTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG01891.hp2 others(7): Show |
a0001a0009 | a0001c0001a0001c0003a0009c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0133 a0001c0001t0002g0049 a0001c0001t0002g0052 others(7): Show |
10 | 68 | 0.1471 | 5 | c.587 others(22): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 5/17 | chr5 | TogoVar | |||||||
C6orf118_chr6_165274664_165314605 | 165282647 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00735.hp2 others(13): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0006a0008c0017others(1): Show | a0001c0001t0001a0004c0006t0001a0008c0017t0001others(1): Show | a0001c0001t0001g0159 a0001c0001t0001g0194 a0001c0001t0001g0203 others(12): Show |
16 | 196 | 0.0816 | 5 | c.130 others(22): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42117923 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00741.hp2 others(29): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0002others(10): Show | a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0116 others(27): Show |
32 | 162 | 0.1975 | 5 | c.253 others(22): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42137817 | G | GGGGGC | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp1 HG01934.hp1 others(36): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0040others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0005 a0001c0001t0001g0154 a0001c0001t0001g0170 others(35): Show |
39 | 313 | 0.1246 | 5 | c.145 others(22): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42146137 | A | AAAAAG | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00639.hp2 others(91): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0003c0003others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(46): Show | a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0003g0297 others(91): Show |
94 | 148 | 0.6351 | 5 | c.-36 others(16): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 3518 | chr6 | TogoVar | |||||||
C6orf141_chr6_49545668_49557095 | 49555513 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(212): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0007 | a0001c0001t0001a0001c0001t0008a0004c0005t0005others(1): Show | a0001c0001t0001g0000 a0001c0001t0008g0000 a0004c0005t0005g0000 others(1): Show |
215 | 243 | 0.8848 | 5 | c.*39 others(16): Show |
C6orf141 | ENSG00000197261.12 | transcript | ENST00000529246.4 | protein_coding | 3419 | chr6 | TogoVar | |||||||
C6orf47_chr6_31653298_31665778 | 31661245 | T | TTTGAC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(189): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(11): Show |
192 | 428 | 0.4486 | 5 | c.-12 others(16): Show |
C6orf47 | ENSG00000204439.4 | transcript | ENST00000375911.2 | protein_coding | 468 | chr6 | TogoVar | |||||||
C6orf89_chr6_36880952_36933964 | 36907275 | C | CTTTTG | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG02451.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(6): Show | a0001c0001t0001g0157 a0001c0001t0004g0121 a0001c0001t0004g0133 others(10): Show |
19 | 270 | 0.0704 | 5 | c.403 others(22): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40907383 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001a0001c0025 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 others(5): Show |
8 | 159 | 0.0503 | 5 | c.-22 others(16): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 2113 | chr5 | TogoVar | |||||||
C7_chr5_40904497_40989643 | 40916998 | G | GTTGGC | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008 | a0001c0001t0002g0007 a0001c0001t0002g0275 a0001c0001t0004g0276 others(1): Show |
4 | 378 | 0.0106 | 5 | c.6+7 others(18): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40922374 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG01928.hp1 HG02027.hp1 others(12): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(5): Show | a0001c0001t0002g0320 a0001c0001t0004g0317 a0002c0002t0001g0291 others(12): Show |
15 | 141 | 0.1064 | 5 | c.7-6 others(18): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40953639 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01168.hp1 others(4): Show |
a0001a0007a0014 | a0001c0001a0007c0007a0014c0021 | a0001c0001t0002a0007c0007t0004a0014c0021t0001 | a0001c0001t0002g0269 a0001c0001t0002g0270 a0007c0007t0004g0264 others(4): Show |
7 | 76 | 0.0921 | 5 | c.109 others(24): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40964020 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(37): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0002g0032 a0001c0001t0002g0061 a0001c0001t0002g0154 others(37): Show |
40 | 60 | 0.6667 | 5 | c.175 others(22): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40965648 | A | ATATTT | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(19): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(5): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(8): Show | a0001c0001t0001g0248 a0001c0001t0001g0249 a0002c0002t0001g0086 others(19): Show |
22 | 57 | 0.3860 | 5 | c.188 others(22): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40965648 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00621.hp2 others(41): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0022a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0022t0001others(7): Show | a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0222 others(41): Show |
44 | 79 | 0.5570 | 5 | c.188 others(22): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40978873 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG01433.hp2 HG02280.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0004a0002c0002t0004a0004c0004t0004 | a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0012 others(10): Show |
13 | 125 | 0.1040 | 5 | c.216 others(22): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf31_chr7_25129692_25185354 | 25166230 | C | CTTTTT | intron_variant | MODIFIER | HG02976.hp1 NA18980.hp2 NA18993.hp1 others(2): Show |
a0004a0005a0023 | a0004c0004a0005c0006a0023c0033 | a0004c0004t0002a0005c0006t0002a0023c0033t0002 | a0004c0004t0002g0270 a0005c0006t0002g0046 a0005c0006t0002g0255 others(1): Show |
5 | 309 | 0.0162 | 5 | c.311 others(22): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
C7orf33_chr7_148585766_148620860 | 148597730 | A | ATTTGT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(102): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(94): Show |
105 | 332 | 0.3163 | 5 | c.204 others(22): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148619738 | A | AAAAAG | downstream_gene_variant | MODIFIER | HG00423.hp2 HG02109.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0104 a0001c0001t0002g0150 others(3): Show |
9 | 442 | 0.0204 | 5 | c.*43 others(16): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 3879 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1059790 | C | CCGTAG | intron_variant | MODIFIER | HG01891.hp2 HG02976.hp2 NA19043.hp2 |
a0001a0009 | a0001c0001a0009c0006 | a0001c0001t0005a0001c0001t0016a0009c0006t0005 | a0001c0001t0005g0268 a0001c0001t0016g0113 a0009c0006t0005g0296 |
3 | 324 | 0.0093 | 5 | c.130 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1088426 | C | CACGCA | intron_variant | MODIFIER | HG01081.hp2 HG02280.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0209 a0001c0001t0003g0205 a0001c0001t0003g0206 others(4): Show |
7 | 324 | 0.0216 | 5 | c.129 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1105998 | G | GGTGAA | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02559.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0002g0315 a0001c0001t0005g0308 a0001c0001t0005g0311 others(15): Show |
18 | 324 | 0.0556 | 5 | c.129 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1108895 | A | ATTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02559.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0011a0001c0001t0012others(3): Show | a0001c0001t0005g0308 a0001c0001t0005g0311 a0001c0001t0011g0306 others(13): Show |
16 | 207 | 0.0773 | 5 | c.129 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48051347 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(93): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0001a0005c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0006 a0001c0002t0001g0020 a0001c0002t0001g0129 others(76): Show |
96 | 180 | 0.5333 | 5 | c.606 others(22): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051766 | C | CTTTCT | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00639.hp2 others(74): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0006 others(37): Show |
77 | 402 | 0.1915 | 5 | c.606 others(20): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051770 | C | CTTTCT | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 a0001c0002t0001g0117 a0001c0002t0001g0120 |
5 | 382 | 0.0131 | 5 | c.606 others(20): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56900644 | C | CATGAG | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(320): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0010a0001c0018others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(245): Show |
323 | 364 | 0.8874 | 5 | c.109 others(24): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C8B_chr1_56924207_56971015 | 56967316 | T | TAAAAC | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0171 others(3): Show |
7 | 400 | 0.0175 | 5 | c.-13 others(16): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 1302 | chr1 | TogoVar | |||||||
C8G_chr9_136940243_136951975 | 136948745 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01070.hp2 others(22): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0001a0004c0005t0001 | a0002c0003t0001g0003 a0002c0003t0001g0009 a0004c0005t0001g0003 |
25 | 54 | 0.4630 | 5 | c.*19 others(16): Show |
C8G | ENSG00000176919.13 | transcript | ENST00000371634.7 | protein_coding | 1771 | chr9 | TogoVar | |||||||
C8orf33_chr8_145047467_145061030 | 145050924 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02300.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0004g0001 others(1): Show |
9 | 100 | 0.0900 | 5 | c.-15 others(16): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 1542 | chr8 | TogoVar | |||||||
C8orf33_chr8_145047467_145061030 | 145052296 | G | GCGCCC | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02074.hp1 HG02080.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0005 |
6 | 403 | 0.0149 | 5 | c.-19 others(14): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 170 | chr8 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68331773 | T | TCCTTC | intron_variant | MODIFIER | HG01106.hp1 HG01168.hp1 NA18961.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0002a0002c0004t0001 | a0001c0001t0001g0011 a0001c0002t0002g0012 a0002c0004t0001g0013 |
3 | 126 | 0.0238 | 5 | c.327 others(20): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68331783 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01943.hp1 HG02615.hp1 others(1): Show |
a0001a0006a0009 | a0001c0001a0006c0015a0009c0011 | a0001c0001t0001a0006c0015t0002a0009c0011t0001 | a0001c0001t0001g0071 a0001c0001t0001g0116 a0006c0015t0002g0058 others(1): Show |
4 | 10 | 0.4000 | 5 | c.327 others(20): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68352415 | A | ACTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01071.hp1 others(92): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 others(92): Show |
95 | 126 | 0.7540 | 5 | c.327 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68376184 | C | CATAAA | intron_variant | MODIFIER | HG01943.hp2 HG02970.hp1 HG03195.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0051 a0001c0001t0002g0048 a0001c0001t0002g0067 others(4): Show |
7 | 41 | 0.1707 | 5 | c.327 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68426874 | A | AAAACC | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01081.hp2 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(51): Show |
54 | 125 | 0.4320 | 5 | c.328 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68465948 | T | TAATAA | intron_variant | MODIFIER | HG02647.hp1 HG03453.hp1 NA18522.hp2 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0006 | a0001c0001t0001a0002c0003t0001a0003c0006t0004 | a0001c0001t0001g0044 a0002c0003t0001g0069 a0003c0006t0004g0124 |
3 | 103 | 0.0291 | 5 | c.608 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |