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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC39_chr3_180609008_180684489 | 180616820 | C | T | splice_region_variant others(1): Show |
LOW | HG01975.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201 | 1 | 254 | 0.0039 | 0 | c.240 others(6): Show |
CCDC39 | ENSG00000284862.3 | transcript | ENST00000476379.6 | protein_coding | 17/19 | chr3 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80048579 | C | G | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(79): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0003others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(79): Show | 82 | 378 | 0.2169 | 0 | c.677 others(5): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 4/19 | chr17 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80048765 | A | G | splice_region_variant others(1): Show |
LOW | NA19057.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0360 | 1 | 378 | 0.0027 | 0 | c.855 others(5): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 5/19 | chr17 | TogoVar | ||||||
CCDC43_chr17_44672440_44694776 | 44680585 | G | A | missense_variant others(1): Show |
MODERATE | NA21309.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0027 | 1 | 362 | 0.0028 | 0 | c.487 others(3): Show |
p.Leu others(6): Show |
CCDC43 | ENSG00000180329.14 | transcript | ENST00000315286.13 | protein_coding | 4/5 | 510/2114 | 487/675 | 163/224 | chr17 | TogoVar | ||
CCDC47_chr17_63740255_63778597 | 63752432 | G | A | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG01884.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198a0001c0002t0001g0199a0001c0002t0001g0200others(2): Show | 5 | 352 | 0.0142 | 0 | c.109 others(6): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 10/12 | chr17 | TogoVar | ||||||
CCDC50_chr3_191324394_191403659 | 191357084 | C | G | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(340): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0007others(12): Show | a0001c0002t0001a0001c0002t0015a0001c0002t0016others(51): Show | a0001c0002t0001g0001a0001c0002t0001g0005a0001c0002t0001g0008others(277): Show | 343 | 406 | 0.8448 | 0 | c.50- others(4): Show |
CCDC50 | ENSG00000152492.15 | transcript | ENST00000392455.9 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
CCDC50_chr3_191324394_191403659 | 191375595 | A | G | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(195): Show |
a0001a0007a0010others(2): Show | a0001c0002a0001c0003a0001c0007others(5): Show | a0001c0002t0001a0001c0002t0015a0001c0002t0016others(27): Show | a0001c0002t0001g0001a0001c0002t0001g0005a0001c0002t0001g0008others(157): Show | 198 | 406 | 0.4877 | 0 | c.976 others(5): Show |
CCDC50 | ENSG00000152492.15 | transcript | ENST00000392455.9 | protein_coding | 6/11 | chr3 | TogoVar | ||||||
CCDC50_chr3_191324394_191403659 | 191380139 | G | GT | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(91): Show |
a0001a0003a0005 | a0001c0002a0001c0003a0001c0007others(2): Show | a0001c0002t0001a0001c0002t0027a0001c0003t0004others(17): Show | a0001c0002t0001g0014a0001c0002t0001g0268a0001c0002t0001g0269others(79): Show | 94 | 406 | 0.2315 | 1 | c.977 others(6): Show |
CCDC50 | ENSG00000152492.15 | transcript | ENST00000392455.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CCDC50_chr3_191324394_191403659 | 191380139 | G | GTT | splice_region_variant others(1): Show |
LOW | HG00438.hp1 HG00544.hp2 HG00621.hp1 others(65): Show |
a0002a0003 | a0002c0001a0002c0010a0003c0004 | a0002c0001t0003a0002c0001t0009a0002c0001t0011others(4): Show | a0002c0001t0003g0002a0002c0001t0003g0004a0002c0001t0003g0007others(47): Show | 68 | 406 | 0.1675 | 2 | c.977 others(13): Show |
CCDC50 | ENSG00000152492.15 | transcript | ENST00000392455.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CCDC50_chr3_191324394_191403659 | 191380139 | GT | G | splice_region_variant others(1): Show |
LOW | HG01099.hp1 HG02486.hp2 HG02523.hp1 others(3): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0004others(1): Show | a0001c0002t0001a0002c0001t0002a0003c0004t0018others(1): Show | a0001c0002t0001g0287a0002c0001t0002g0074a0003c0004t0018g0035others(3): Show | 6 | 406 | 0.0148 | -1 | c.977 others(6): Show |
CCDC50 | ENSG00000152492.15 | transcript | ENST00000392455.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CCDC57_chr17_82096470_82217842 | 82134065 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(118): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0023a0001c0027others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0023t0001others(11): Show | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0073others(118): Show | 121 | 252 | 0.4802 | 0 | c.257 others(6): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 16/18 | chr17 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82188213 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(201): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0027a0002c0003others(22): Show | a0001c0001t0001a0001c0001t0004a0001c0027t0001others(25): Show | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0073others(200): Show | 204 | 252 | 0.8095 | 0 | c.105 others(6): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 7/18 | chr17 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82195362 | T | A | missense_variant others(1): Show |
MODERATE | NA19064.hp1 | a0015 | a0015c0030 | a0015c0030t0001 | a0015c0030t0001g0002 | 1 | 252 | 0.0040 | 0 | c.519 others(3): Show |
p.Glu others(6): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 4/19 | 585/3362 | 519/3084 | 173/1027 | chr17 | TogoVar | ||
CCDC57_chr17_82096470_82217842 | 82201955 | G | A | splice_region_variant others(1): Show |
LOW | HG04184.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0036 | 1 | 252 | 0.0040 | 0 | c.-8- others(4): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 1/18 | chr17 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82201956 | C | T | splice_region_variant others(1): Show |
LOW | HG04184.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0036 | 1 | 252 | 0.0040 | 0 | c.-8- others(4): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 1/18 | chr17 | TogoVar | ||||||
CCDC59_chr12_82347303_82363387 | 82357273 | C | T | splice_region_variant others(1): Show |
LOW | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 346 | 0.0029 | 0 | c.155 others(5): Show |
CCDC59 | ENSG00000133773.12 | transcript | ENST00000256151.8 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
CCDC59_chr12_82347303_82363387 | 82357274 | A | T | splice_region_variant others(1): Show |
LOW | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 346 | 0.0029 | 0 | c.155 others(5): Show |
CCDC59 | ENSG00000133773.12 | transcript | ENST00000256151.8 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
CCDC59_chr12_82347303_82363387 | 82357276 | TGAGGAAT others(69): Show |
T | splice_region_variant others(1): Show |
LOW | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 346 | 0.0029 | -76 | c.155 others(88): Show |
CCDC59 | ENSG00000133773.12 | transcript | ENST00000256151.8 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
CCDC60_chr12_119329729_119546040 | 119479095 | A | G | missense_variant others(1): Show |
MODERATE | HG00280.hp2 HG00741.hp1 HG01069.hp2 others(11): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(1): Show | a0003c0003t0001g0021a0003c0003t0001g0027a0003c0003t0001g0028others(11): Show | 14 | 256 | 0.0547 | 0 | c.343 others(3): Show |
p.Thr others(6): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 4/14 | 791/2426 | 343/1653 | 115/550 | chr12 | TogoVar | ||
CCDC60_chr12_119329729_119546040 | 119528751 | A | T | splice_region_variant others(1): Show |
LOW | HG02258.hp2 HG02809.hp2 HG02970.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0003a0002c0002t0003a0002c0002t0004others(2): Show | a0001c0001t0003g0054a0002c0002t0003g0022a0002c0002t0004g0150others(6): Show | 9 | 256 | 0.0352 | 0 | c.136 others(6): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 12/13 | chr12 | TogoVar | ||||||
CCDC61_chr19_45990467_46023616 | 46015043 | C | T | splice_region_variant others(1): Show |
LOW | HG00621.hp2 HG00642.hp2 HG00673.hp1 others(38): Show |
a0003 | a0003c0003a0003c0022 | a0003c0003t0001a0003c0022t0001 | a0003c0003t0001g0012a0003c0003t0001g0015a0003c0003t0001g0018others(35): Show | 41 | 428 | 0.0958 | 0 | c.552 others(5): Show |
CCDC61 | ENSG00000104983.8 | transcript | ENST00000595358.5 | protein_coding | 5/13 | chr19 | TogoVar | ||||||
CCDC61_chr19_45990467_46023616 | 46015347 | C | T | splice_region_variant others(1): Show |
LOW | HG02257.hp1 HG02647.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0100a0001c0006t0001g0110a0001c0006t0001g0121others(3): Show | 6 | 428 | 0.0140 | 0 | c.765 others(3): Show |
p.Leu others(6): Show |
CCDC61 | ENSG00000104983.8 | transcript | ENST00000595358.5 | protein_coding | 7/14 | 814/1817 | 765/1539 | 255/512 | chr19 | TogoVar | ||
CCDC61_chr19_45990467_46023616 | 46017248 | G | C | missense_variant others(1): Show |
MODERATE | HG03017.hp1 NA20805.hp2 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0102a0007c0009t0001g0115 | 2 | 428 | 0.0047 | 0 | c.131 others(4): Show |
p.Gly others(6): Show |
CCDC61 | ENSG00000104983.8 | transcript | ENST00000595358.5 | protein_coding | 12/14 | 1361/1817 | 1312/1539 | 438/512 | chr19 | TogoVar | ||
CCDC62_chr12_122769572_122832528 | 122798066 | TTGTCAAT others(16): Show |
T | frameshift_variant others(3): Show |
HIGH | NA18972.hp1 | a0007 | a0007c0012 | a0007c0012t0004 | a0007c0012t0004g0020 | 1 | 298 | 0.0034 | -23 | c.862 others(33): Show |
p.Ile others(5): Show |
CCDC62 | ENSG00000130783.14 | transcript | ENST00000253079.11 | protein_coding | 8/13 | 862/2055 | 288/684 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
CCDC62_chr12_122769572_122832528 | 122813422 | A | C | splice_region_variant others(1): Show |
LOW | NA18906.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0021 | 1 | 298 | 0.0034 | 0 | c.200 others(6): Show |
CCDC62 | ENSG00000130783.14 | transcript | ENST00000253079.11 | protein_coding | 11/12 | chr12 | TogoVar | ||||||
CCDC63_chr12_110841987_110912535 | 110853406 | T | A | stop_gained others(1): Show |
HIGH | HG00621.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0068 | 1 | 288 | 0.0035 | 0 | c.11T others(2): Show |
p.Leu others(2): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 3/12 | 226/1966 | 11/1692 | 4/563 | chr12 | TogoVar | ||
CCDC63_chr12_110841987_110912535 | 110904791 | G | A | missense_variant others(1): Show |
MODERATE | HG02257.hp1 | a0014 | a0014c0018 | a0014c0018t0002 | a0014c0018t0002g0189 | 1 | 288 | 0.0035 | 0 | c.154 others(4): Show |
p.Val others(6): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 11/12 | 1761/1966 | 1546/1692 | 516/563 | chr12 | TogoVar | ||
CCDC65_chr12_48899133_48926576 | 48918910 | CAG | C | splice_region_variant others(1): Show |
LOW | HG00558.hp2 HG00609.hp2 HG00621.hp1 others(47): Show |
a0002a0008 | a0002c0002a0008c0010 | a0002c0002t0002a0008c0010t0002 | a0002c0002t0002g0002a0002c0002t0002g0007a0002c0002t0002g0016others(34): Show | 50 | 376 | 0.1330 | -2 | c.102 others(15): Show |
CCDC65 | ENSG00000139537.11 | transcript | ENST00000320516.5 | protein_coding | 6/7 | chr12 | TogoVar | ||||||
CCDC65_chr12_48899133_48926576 | 48921160 | A | C | splice_region_variant others(1): Show |
LOW | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 376 | 0.0027 | 0 | c.118 others(6): Show |
CCDC65 | ENSG00000139537.11 | transcript | ENST00000320516.5 | protein_coding | 7/7 | chr12 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56559602 | G | A | splice_region_variant others(1): Show |
LOW | HG01099.hp2 HG02280.hp1 HG02886.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0325a0002c0002t0002g0326a0002c0002t0002g0327others(2): Show | 5 | 372 | 0.0134 | 0 | c.102 others(5): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56567057 | G | A | splice_region_variant others(1): Show |
LOW | HG02258.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0121a0001c0001t0002g0122 | 2 | 372 | 0.0054 | 0 | c.814 others(5): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 6/17 | chr3 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56571306 | A | G | splice_region_variant others(1): Show |
LOW | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0292 | 1 | 372 | 0.0027 | 0 | c.936 others(5): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56594027 | A | G | missense_variant others(1): Show |
MODERATE | HG01361.hp2 HG01928.hp1 HG01952.hp2 others(7): Show |
a0005 | a0005c0006 | a0005c0006t0002a0005c0006t0003 | a0005c0006t0002g0003a0005c0006t0002g0006a0005c0006t0002g0289others(2): Show | 10 | 372 | 0.0269 | 0 | c.140 others(4): Show |
p.Gln others(6): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 10/18 | 1471/3134 | 1403/2847 | 468/948 | chr3 | TogoVar | ||
CCDC68_chr18_54896509_54964461 | 54928882 | C | T | missense_variant others(1): Show |
MODERATE | HG02451.hp2 | a0005 | a0005c0009 | a0005c0009t0004 | a0005c0009t0004g0242 | 1 | 326 | 0.0031 | 0 | c.601 others(3): Show |
p.Glu others(6): Show |
CCDC68 | ENSG00000166510.14 | transcript | ENST00000591504.6 | protein_coding | 8/12 | 829/4085 | 601/1008 | 201/335 | chr18 | TogoVar | ||
CCDC68_chr18_54896509_54964461 | 54937957 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp1 HG00558.hp2 others(53): Show |
a0001a0006a0008 | a0001c0002a0006c0011a0008c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0024others(6): Show | a0001c0002t0001g0273a0001c0002t0001g0274a0001c0002t0001g0285others(47): Show | 56 | 326 | 0.1718 | 0 | c.345 others(3): Show |
p.Lys others(6): Show |
CCDC68 | ENSG00000166510.14 | transcript | ENST00000591504.6 | protein_coding | 5/12 | 573/4085 | 345/1008 | 115/335 | chr18 | TogoVar | ||
CCDC69_chr5_151176052_151229092 | 151185414 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(169): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0012a0001c0003t0009a0002c0002t0001others(42): Show | a0001c0001t0012g0270a0001c0003t0009g0357a0002c0002t0001g0052others(161): Show | 172 | 426 | 0.4038 | 0 | c.615 others(5): Show |
CCDC69 | ENSG00000198624.13 | transcript | ENST00000355417.7 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59793119 | G | T | splice_region_variant others(1): Show |
LOW | HG02698.hp1 HG03688.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0177a0002c0004t0001g0178 | 2 | 288 | 0.0069 | 0 | c.123 others(6): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59852708 | TA | T | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(97): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0002g0013a0001c0001t0002g0019a0001c0001t0002g0020others(97): Show | 100 | 288 | 0.3472 | -1 | c.304 others(6): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC73_chr11_32597721_32799662 | 32614949 | T | C | splice_region_variant others(1): Show |
LOW | NA18993.hp2 NA18994.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016a0001c0002t0001g0024 | 2 | 312 | 0.0064 | 0 | c.137 others(6): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 15/17 | chr11 | TogoVar | ||||||
CCDC73_chr11_32597721_32799662 | 32683530 | C | T | splice_region_variant others(1): Show |
LOW | HG01069.hp2 HG01070.hp2 HG01099.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080a0001c0002t0001g0081a0001c0002t0001g0082others(1): Show | 4 | 312 | 0.0128 | 0 | c.429 others(5): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 7/17 | chr11 | TogoVar | ||||||
CCDC73_chr11_32597721_32799662 | 32702867 | A | G | splice_region_variant others(1): Show |
LOW | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 312 | 0.0032 | 0 | c.279 others(5): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 4/17 | chr11 | TogoVar | ||||||
CCDC74A_chr2_131522888_131538666 | 131531788 | ACAAGGGC others(32): Show |
A | splice_region_variant others(1): Show |
LOW | HG02630.hp2 | a0010 | a0010c0019 | a0010c0019t0002 | a0010c0019t0002g0088 | 1 | 440 | 0.0023 | -39 | c.485 others(51): Show |
CCDC74A | ENSG00000163040.15 | transcript | ENST00000409856.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC74B_chr2_130134287_130150112 | 130139689 | GGCTGGGG others(25): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18990.hp2 | a0016 | a0016c0021 | a0016c0021t0001 | a0016c0021t0001g0075 | 1 | 450 | 0.0022 | -32 | c.810 others(42): Show |
p.Leu others(5): Show |
CCDC74B | ENSG00000152076.19 | transcript | ENST00000409943.8 | protein_coding | 8/8 | 926/1329 | 810/945 | 270/314 | chr2 | TogoVar | ||
CCDC74B_chr2_130134287_130150112 | 130141152 | C | T | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(3): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0011 | 6 | 450 | 0.0133 | 0 | c.485 others(5): Show |
CCDC74B | ENSG00000152076.19 | transcript | ENST00000409943.8 | protein_coding | 4/7 | chr2 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 409154 | GAGATCAC others(786): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01891.hp1 HG02145.hp2 HG02809.hp1 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0011a0006c0006t0012 | a0006c0006t0011g0103a0006c0006t0011g0106a0006c0006t0012g0104others(1): Show | 4 | 432 | 0.0093 | -793 | c.-16 others(14): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC77_chr12_396644_447642 | 411748 | C | T | stop_gained others(1): Show |
HIGH | HG01074.hp2 | a0008 | a0008c0013 | a0008c0013t0004 | a0008c0013t0004g0419 | 1 | 432 | 0.0023 | 0 | c.40C others(2): Show |
p.Arg others(3): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 4/13 | 151/2300 | 40/1467 | 14/488 | chr12 | TogoVar | ||
CCDC77_chr12_396644_447642 | 440837 | T | C | splice_region_variant others(1): Show |
LOW | HG01192.hp1 HG01346.hp2 HG02486.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0147a0001c0001t0001g0211a0001c0001t0001g0270others(5): Show | 8 | 432 | 0.0185 | 0 | c.116 others(6): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 11/12 | chr12 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 441766 | A | C | splice_region_variant others(1): Show |
LOW | NA19067.hp2 | a0003 | a0003c0003 | a0003c0003t0015 | a0003c0003t0015g0290 | 1 | 432 | 0.0023 | 0 | c.132 others(6): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 12/12 | chr12 | TogoVar | ||||||
CCDC78_chr16_717582_731443 | 725878 | G | C | missense_variant others(1): Show |
MODERATE | HG01106.hp1 HG02622.hp1 |
a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0027 | 2 | 390 | 0.0051 | 0 | c.183 others(3): Show |
p.Ile others(5): Show |
CCDC78 | ENSG00000162004.19 | transcript | ENST00000345165.10 | protein_coding | 3/14 | 259/1585 | 183/1413 | 61/470 | chr16 | TogoVar | ||
CCDC78_chr16_717582_731443 | 725885 | G | A | splice_region_variant others(1): Show |
LOW | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 390 | 0.0026 | 0 | c.181 others(5): Show |
CCDC78 | ENSG00000162004.19 | transcript | ENST00000345165.10 | protein_coding | 2/13 | chr16 | TogoVar |