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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC40_chr17_80031642_80105613 | 80061856 | T | TCCCTAAC others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp1 others(49): Show |
a0000a0001a0002others(5): Show | a0000c0072a0001c0004a0001c0013others(12): Show | a0000c0072t0002a0001c0004t0002a0001c0004t0011others(14): Show | a0000c0072t0002g0308a0001c0004t0002g0270a0001c0004t0002g0311others(49): Show | 52 | 378 | 0.1376 | 24 | c.144 others(43): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CCDC40_chr17_80031642_80105613 | 80081387 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG00735.hp2 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(13): Show | a0001c0002t0003a0001c0003t0001a0001c0004t0002others(13): Show | a0001c0002t0003g0225a0001c0002t0003g0264a0001c0003t0001g0013others(44): Show | 47 | 378 | 0.1243 | 24 | c.156 others(41): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CCDC42_chr17_8724935_8749836 | 8728171 | C | CCATCCAT others(17): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02976.hp2 HG03195.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0150 | 6 | 410 | 0.0146 | 24 | c.*19 others(35): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 1763 | chr17 | TogoVar | ||||||
CCDC42_chr17_8724935_8749836 | 8728171 | C | CCATCCAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0068a0001c0001t0002g0069 | 4 | 410 | 0.0098 | 24 | c.*19 others(35): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 1763 | chr17 | TogoVar | ||||||
CCDC47_chr17_63740255_63778597 | 63771045 | G | GAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142a0001c0001t0001g0143 | 2 | 352 | 0.0057 | 24 | c.-20 others(41): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
CCDC47_chr17_63740255_63778597 | 63771045 | G | GAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0137 | 2 | 352 | 0.0057 | 24 | c.-20 others(41): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
CCDC47_chr17_63740255_63778597 | 63771045 | G | GAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(53): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(52): Show | 56 | 352 | 0.1591 | 24 | c.-20 others(41): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
CCDC47_chr17_63740255_63778597 | 63771045 | G | GAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01255.hp2 HG01257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0053others(2): Show | 5 | 352 | 0.0142 | 24 | c.-20 others(41): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82184031 | G | GCGCGCGC others(17): Show |
intron_variant | MODIFIER | NA18962.hp2 NA19064.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0217a0002c0002t0001g0247 | 2 | 252 | 0.0079 | 24 | c.105 others(40): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 7/18 | chr17 | TogoVar | ||||||
CCDC60_chr12_119329729_119546040 | 119456060 | A | AAAGCAAG others(17): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01934.hp1 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0034a0001c0001t0002g0093a0001c0001t0003g0177 | 3 | 256 | 0.0117 | 24 | c.171 others(43): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC62_chr12_122769572_122832528 | 122796488 | C | CTGTTAAC others(17): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0007 | a0007c0012 | a0007c0012t0004 | a0007c0012t0004g0020 | 1 | 298 | 0.0034 | 24 | c.773 others(39): Show |
CCDC62 | ENSG00000130783.14 | transcript | ENST00000253079.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC62_chr12_122769572_122832528 | 122812773 | G | GAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG03041.hp1 NA19012.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0140a0001c0001t0001g0197 | 3 | 298 | 0.0101 | 24 | c.185 others(41): Show |
CCDC62 | ENSG00000130783.14 | transcript | ENST00000253079.11 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC62_chr12_122769572_122832528 | 122812777 | G | GAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 298 | 0.0034 | 24 | c.185 others(41): Show |
CCDC62 | ENSG00000130783.14 | transcript | ENST00000253079.11 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC62_chr12_122769572_122832528 | 122817042 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02818.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0003a0001c0014t0002 | a0001c0001t0003g0019a0001c0001t0003g0194a0001c0001t0003g0285others(1): Show | 4 | 298 | 0.0134 | 24 | c.200 others(43): Show |
CCDC62 | ENSG00000130783.14 | transcript | ENST00000253079.11 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC65_chr12_48899133_48926576 | 48912437 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 376 | 0.0027 | 24 | c.301 others(41): Show |
CCDC65 | ENSG00000139537.11 | transcript | ENST00000320516.5 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGGTG others(17): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0255 | 1 | 372 | 0.0027 | 24 | c.-40 others(33): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGTGTG others(17): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG03017.hp1 NA18987.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003 | a0001c0001t0001g0191a0002c0002t0002g0267a0002c0002t0003g0271 | 3 | 372 | 0.0081 | 24 | c.-40 others(33): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56597776 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0004 | a0004c0011 | a0004c0011t0005 | a0004c0011t0005g0236 | 1 | 372 | 0.0027 | 24 | c.140 others(43): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 10/17 | chr3 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56597777 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01891.hp2 HG01928.hp1 others(3): Show |
a0002a0005a0006 | a0002c0002a0005c0006a0006c0014 | a0002c0002t0002a0005c0006t0002a0006c0014t0002 | a0002c0002t0002g0029a0005c0006t0002g0006a0005c0006t0002g0290others(1): Show | 6 | 372 | 0.0161 | 24 | c.140 others(43): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CCDC66_chr3_56552175_56626837 | 56621000 | A | AAGTTAGT others(17): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0006 | a0006c0014 | a0006c0014t0002 | a0006c0014t0002g0323 | 1 | 372 | 0.0027 | 24 | c.276 others(41): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CCDC68_chr18_54896509_54964461 | 54905409 | A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0178a0001c0001t0002g0006a0001c0001t0002g0132others(44): Show | 48 | 326 | 0.1472 | 24 | c.951 others(40): Show |
CCDC68 | ENSG00000166510.14 | transcript | ENST00000591504.6 | protein_coding | 11/11 | chr18 | TogoVar | ||||||
CCDC68_chr18_54896509_54964461 | 54930624 | C | CCCCTCCC others(17): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0295 | 1 | 326 | 0.0031 | 24 | c.601 others(41): Show |
CCDC68 | ENSG00000166510.14 | transcript | ENST00000591504.6 | protein_coding | 7/11 | chr18 | TogoVar | ||||||
CCDC68_chr18_54896509_54964461 | 54930653 | C | CCCTCCCT others(17): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03471.hp2 |
a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0253a0002c0004t0014g0255 | 2 | 326 | 0.0061 | 24 | c.601 others(41): Show |
CCDC68 | ENSG00000166510.14 | transcript | ENST00000591504.6 | protein_coding | 7/11 | chr18 | TogoVar | ||||||
CCDC68_chr18_54896509_54964461 | 54950788 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01071.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0001g0133a0001c0001t0001g0162a0001c0001t0001g0163others(6): Show | 9 | 326 | 0.0276 | 24 | c.-10 others(43): Show |
CCDC68 | ENSG00000166510.14 | transcript | ENST00000591504.6 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59862501 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01123.hp1 HG01255.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0008 | a0001c0001t0002a0001c0006t0002a0001c0006t0025others(1): Show | a0001c0001t0002g0062a0001c0001t0002g0069a0001c0001t0002g0086others(5): Show | 8 | 288 | 0.0278 | 24 | c.304 others(41): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59862516 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0172 | 1 | 288 | 0.0035 | 24 | c.304 others(41): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59865852 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0143 | 1 | 288 | 0.0035 | 24 | c.304 others(43): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC73_chr11_32597721_32799662 | 32755929 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0125 | 1 | 312 | 0.0032 | 24 | c.135 others(41): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 2/17 | chr11 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 416369 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 | 1 | 432 | 0.0023 | 24 | c.271 others(41): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC7_chr10_32441140_32887864 | 32506747 | C | CGGGCCAA others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01123.hp2 HG01243.hp1 others(15): Show |
a0005a0012a0019 | a0005c0006a0005c0009a0012c0015others(1): Show | a0005c0006t0001a0005c0009t0001a0005c0009t0003others(3): Show | a0005c0006t0001g0234a0005c0006t0001g0235a0005c0006t0001g0236others(15): Show | 18 | 368 | 0.0489 | 24 | c.873 others(43): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 10/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC7_chr10_32441140_32887864 | 32582106 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | NA19056.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318a0001c0001t0001g0335 | 2 | 368 | 0.0054 | 24 | c.145 others(41): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 17/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC7_chr10_32441140_32887864 | 32619910 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0143 | 1 | 368 | 0.0027 | 24 | c.180 others(45): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 19/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC7_chr10_32441140_32887864 | 32828461 | A | AGAAGAAG others(17): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0173 | 1 | 368 | 0.0027 | 24 | c.326 others(43): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC7_chr10_32441140_32887864 | 32828461 | A | AGAAGAAG others(17): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 368 | 0.0027 | 24 | c.326 others(43): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC7_chr10_32441140_32887864 | 32828479 | G | GGAAGAAG others(17): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0273 | 1 | 368 | 0.0027 | 24 | c.326 others(43): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC7_chr10_32441140_32887864 | 32828485 | G | GGAAGAAG others(17): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0263 | 1 | 368 | 0.0027 | 24 | c.326 others(43): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC7_chr10_32441140_32887864 | 32828506 | A | AGAAGAGG others(17): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0337 | 1 | 368 | 0.0027 | 24 | c.326 others(43): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC7_chr10_32441140_32887864 | 32830121 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135a0001c0002t0001g0136 | 2 | 368 | 0.0054 | 24 | c.326 others(43): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC7_chr10_32441140_32887864 | 32830121 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00597.hp1 others(25): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0013a0003c0004others(4): Show | a0001c0001t0001a0001c0013t0001a0003c0004t0001others(4): Show | a0001c0001t0001g0044a0001c0001t0001g0304a0001c0001t0001g0307others(25): Show | 28 | 368 | 0.0761 | 24 | c.326 others(43): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC80_chr3_112591797_112646143 | 112643616 | G | GGAAACTA others(17): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0191 | 1 | 380 | 0.0026 | 24 | c.-33 others(35): Show |
CCDC80 | ENSG00000091986.16 | transcript | ENST00000206423.8 | protein_coding | 2474 | chr3 | TogoVar | ||||||
CCDC83_chr11_85850383_85925013 | 85917192 | G | GAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG02280.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054a0001c0002t0001g0189a0001c0002t0001g0230 | 3 | 334 | 0.0090 | 24 | c.108 others(41): Show |
CCDC83 | ENSG00000150676.13 | transcript | ENST00000342404.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CCDC85A_chr2_56178990_56391172 | 56189295 | G | GTATTTTT others(17): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 308 | 0.0033 | 24 | c.277 others(41): Show |
CCDC85A | ENSG00000055813.6 | transcript | ENST00000407595.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC85A_chr2_56178990_56391172 | 56389517 | A | AATATATG others(17): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0171 | 1 | 308 | 0.0033 | 24 | c.*51 others(35): Show |
CCDC85A | ENSG00000055813.6 | transcript | ENST00000407595.3 | protein_coding | 3346 | chr2 | TogoVar | ||||||
CCDC85C_chr14_99495190_99609207 | 99518568 | C | CAAGGGGC others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02965.hp2 |
a0002 | a0002c0009a0002c0013 | a0002c0009t0060a0002c0013t0039 | a0002c0009t0060g0027a0002c0013t0039g0292 | 2 | 300 | 0.0067 | 24 | c.976 others(41): Show |
CCDC85C | ENSG00000205476.9 | transcript | ENST00000380243.9 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55367528 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18939.hp1 NA19081.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0085a0001c0001t0013g0086a0001c0001t0013g0087 | 3 | 316 | 0.0095 | 24 | c.403 others(41): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 5/32 | chr2 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55375469 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 316 | 0.0032 | 24 | c.274 others(39): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55390053 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01255.hp1 HG01256.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0210a0001c0001t0001g0224a0001c0001t0001g0225others(17): Show | 20 | 316 | 0.0633 | 24 | c.165 others(41): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 2/32 | chr2 | TogoVar | ||||||
CCDC88B_chr11_64335204_64362534 | 64336083 | C | CATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 NA18944.hp1 NA18948.hp1 |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0007t0009 | a0003c0003t0001g0016a0003c0003t0001g0025a0003c0007t0009g0172 | 3 | 400 | 0.0075 | 24 | c.-41 others(35): Show |
CCDC88B | ENSG00000168071.22 | transcript | ENST00000356786.10 | protein_coding | 4120 | chr11 | TogoVar | ||||||
CCDC88B_chr11_64335204_64362534 | 64336085 | C | CATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG03017.hp2 HG04204.hp2 others(1): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0007t0003a0003c0007t0009 | a0003c0003t0001g0003a0003c0003t0001g0185a0003c0007t0003g0181others(1): Show | 4 | 400 | 0.0100 | 24 | c.-41 others(35): Show |
CCDC88B | ENSG00000168071.22 | transcript | ENST00000356786.10 | protein_coding | 4118 | chr11 | TogoVar | ||||||
CCDC88B_chr11_64335204_64362534 | 64336089 | C | CATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0027 | 2 | 400 | 0.0050 | 24 | c.-41 others(35): Show |
CCDC88B | ENSG00000168071.22 | transcript | ENST00000356786.10 | protein_coding | 4114 | chr11 | TogoVar |