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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDH5_chr16_66361691_66409784 | 66364955 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG01346.hp2 HG02040.hp1 HG02040.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0020a0001c0002t0001others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0281a0001c0001t0001g0294others(12): Show | 17 | 404 | 0.0421 | 7 | c.-18 others(18): Show |
CDH5 | ENSG00000179776.20 | transcript | ENST00000341529.8 | protein_coding | 1735 | chr16 | TogoVar | ||||||
CDH6_chr5_31188686_31334146 | 31302964 | A | AAAGAAAG | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00609.hp1 others(28): Show |
a0001a0002 | a0001c0002a0001c0018a0002c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(11): Show | a0001c0002t0001g0041a0001c0002t0001g0055a0001c0002t0001g0100others(28): Show | 31 | 338 | 0.0917 | 7 | c.999 others(22): Show |
CDH6 | ENSG00000113361.13 | transcript | ENST00000265071.3 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDH7_chr18_65746012_65895337 | 65782099 | C | CTTCTTCT | intron_variant | MODIFIER | HG00140.hp1 HG01433.hp2 |
a0001a0002 | a0001c0012a0002c0003 | a0001c0012t0009a0002c0003t0004 | a0001c0012t0009g0154a0002c0003t0004g0138 | 2 | 208 | 0.0096 | 7 | c.210 others(26): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CDH7_chr18_65746012_65895337 | 65850165 | C | CTATATAA | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG03130.hp2 others(4): Show |
a0001a0002 | a0001c0006a0002c0010 | a0001c0006t0002a0001c0006t0031a0001c0006t0034others(4): Show | a0001c0006t0002g0072a0001c0006t0031g0074a0001c0006t0034g0075others(4): Show | 7 | 208 | 0.0337 | 7 | c.123 others(26): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CDH7_chr18_65746012_65895337 | 65885372 | G | GTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG01255.hp1 HG02615.hp2 HG02622.hp1 others(8): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0004others(2): Show | a0001c0006t0031a0001c0006t0059a0002c0002t0057others(6): Show | a0001c0006t0031g0074a0001c0006t0059g0179a0002c0002t0057g0011others(8): Show | 11 | 208 | 0.0529 | 7 | c.*44 others(18): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 12/12 | 4502 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
CDH8_chr16_61642250_62041438 | 61739915 | A | ATATGTAT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00639.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0018others(4): Show | a0001c0001t0003g0053a0001c0001t0003g0096a0001c0001t0003g0098others(7): Show | 10 | 168 | 0.0595 | 7 | c.141 others(28): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 8/11 | chr16 | TogoVar | ||||||
CDH8_chr16_61642250_62041438 | 61972571 | G | GGGTGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG02080.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(6): Show | a0001c0001t0002g0022a0001c0001t0005g0059a0001c0001t0012g0158others(6): Show | 9 | 168 | 0.0536 | 7 | c.252 others(26): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | ||||||
CDH9_chr5_26875597_27043586 | 26910256 | T | TATCTATC | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 NA20805.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0116a0002c0002t0001g0186 | 3 | 240 | 0.0125 | 7 | c.524 others(24): Show |
CDH9 | ENSG00000113100.10 | transcript | ENST00000231021.9 | protein_coding | 3/11 | chr5 | TogoVar | ||||||
CDH9_chr5_26875597_27043586 | 26954388 | C | CTTTTTTT | intron_variant | MODIFIER | HG01175.hp1 HG01891.hp2 HG02055.hp2 others(7): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0161a0002c0002t0001g0163a0002c0002t0001g0164others(7): Show | 10 | 240 | 0.0417 | 7 | c.228 others(26): Show |
CDH9 | ENSG00000113100.10 | transcript | ENST00000231021.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
CDHR3_chr7_105958264_106041432 | 106016783 | G | GCAAAATT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(3): Show |
a0001a0002a0012 | a0001c0001a0002c0005a0002c0007others(1): Show | a0001c0001t0001a0002c0005t0001a0002c0007t0001others(1): Show | a0001c0001t0001g0071a0001c0001t0001g0131a0002c0005t0001g0159others(3): Show | 6 | 358 | 0.0168 | 7 | c.142 others(24): Show |
CDHR3 | ENSG00000128536.16 | transcript | ENST00000317716.14 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDHR3_chr7_105958264_106041432 | 106028993 | T | TTTCTTTC | intron_variant | MODIFIER | HG02735.hp1 HG02818.hp1 NA18995.hp1 |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0001a0001c0004t0001a0002c0007t0002 | a0001c0001t0001g0088a0001c0004t0001g0222a0002c0007t0002g0152 | 3 | 358 | 0.0084 | 7 | c.230 others(24): Show |
CDHR3 | ENSG00000128536.16 | transcript | ENST00000317716.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36706507 | A | AAAGGCTG | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0104a0001c0001t0001g0151a0001c0001t0001g0164others(52): Show | 55 | 238 | 0.2311 | 7 | c.545 others(24): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36723226 | A | ACCACCTC | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(187): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0120others(187): Show | 190 | 238 | 0.7983 | 7 | c.716 others(26): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36751229 | T | TATATATA | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01167.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0001c0001t0009a0002c0002t0002others(1): Show | a0001c0001t0002g0018a0001c0001t0002g0027a0001c0001t0002g0068others(4): Show | 7 | 238 | 0.0294 | 7 | c.716 others(26): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 10/10 | chr15 | TogoVar | ||||||
CDIN1_chr15_36574626_36815244 | 36804674 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(164): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0105a0001c0001t0001g0109a0001c0001t0001g0110others(164): Show | 167 | 238 | 0.7017 | 7 | c.717 others(24): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDK11B_chr1_1630225_1664004 | 1653863 | C | CACACACA | intron_variant | MODIFIER | HG02071.hp1 HG02647.hp2 NA19055.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0001 | a0001c0001t0002g0152a0001c0001t0005g0209a0001c0002t0001g0122 | 3 | 446 | 0.0067 | 7 | c.228 others(24): Show |
CDK11B | ENSG00000248333.9 | transcript | ENST00000341832.11 | protein_coding | 3/19 | chr1 | TogoVar | ||||||
CDK13_chr7_39945256_40104580 | 40024645 | G | GTTTTTTT | intron_variant | MODIFIER | HG02572.hp1 HG02965.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0028a0001c0003t0009 | a0001c0001t0007g0051a0001c0001t0007g0052a0001c0001t0028g0058others(3): Show | 6 | 322 | 0.0186 | 7 | c.235 others(28): Show |
CDK13 | ENSG00000065883.18 | transcript | ENST00000181839.10 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK13_chr7_39945256_40104580 | 40039434 | A | ATTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01109.hp1 others(47): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0271a0001c0001t0001g0272a0001c0001t0001g0273others(47): Show | 50 | 322 | 0.1553 | 7 | c.235 others(26): Show |
CDK13 | ENSG00000065883.18 | transcript | ENST00000181839.10 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90598704 | A | ATTTGTTT | intron_variant | MODIFIER | HG00621.hp1 HG02071.hp2 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0094others(6): Show | 9 | 168 | 0.0536 | 7 | c.91+ others(22): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90598704 | A | ATTTTTTT | intron_variant | MODIFIER | HG01256.hp1 HG01358.hp1 HG01496.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0110a0001c0001t0001g0115a0001c0001t0002g0113others(4): Show | 7 | 168 | 0.0417 | 7 | c.91+ others(22): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91027791 | C | CCTCTCCT | intron_variant | MODIFIER | HG00438.hp2 HG01993.hp2 HG02135.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0064a0001c0001t0002g0047a0001c0001t0002g0065others(7): Show | 10 | 168 | 0.0595 | 7 | c.104 others(28): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91029624 | T | TCCTCTCC | intron_variant | MODIFIER | HG02559.hp1 NA18906.hp1 NA18979.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0033a0001c0002t0001 | a0001c0001t0006g0103a0001c0001t0033g0008a0001c0002t0001g0102 | 3 | 168 | 0.0179 | 7 | c.104 others(28): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91184204 | T | TAAAAAAA | intron_variant | MODIFIER | HG01256.hp1 HG01358.hp1 HG01496.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0029a0001c0001t0001g0064a0001c0001t0001g0086others(16): Show | 19 | 168 | 0.1131 | 7 | c.*29 others(26): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK15_chr2_201801537_201900550 | 201833716 | C | CTTCTTCT | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0001g0313a0001c0001t0007g0017a0001c0001t0009g0286others(3): Show | 6 | 322 | 0.0186 | 7 | c.607 others(22): Show |
CDK15 | ENSG00000138395.17 | transcript | ENST00000652192.3 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CDK15_chr2_201801537_201900550 | 201861559 | T | TTTTTTTC | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG02055.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0023others(3): Show | a0001c0001t0001g0236a0001c0001t0001g0277a0001c0001t0012g0130others(5): Show | 8 | 322 | 0.0248 | 7 | c.100 others(26): Show |
CDK15 | ENSG00000138395.17 | transcript | ENST00000652192.3 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CDK18_chr1_205499669_205537790 | 205532904 | T | TGTGTGTG | downstream_gene_variant | MODIFIER | HG01070.hp2 HG03654.hp2 HG03710.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179a0001c0001t0001g0199a0001c0001t0001g0243others(2): Show | 5 | 388 | 0.0129 | 7 | c.*15 others(18): Show |
CDK18 | ENSG00000117266.16 | transcript | ENST00000429964.7 | protein_coding | 115 | chr1 | TogoVar | ||||||
CDK19_chr6_110604978_110820469 | 110759428 | A | AAAAAAAT | intron_variant | MODIFIER | NA18949.hp2 NA18954.hp2 NA18955.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0250a0001c0001t0003g0253a0001c0001t0003g0256others(4): Show | 7 | 300 | 0.0233 | 7 | c.129 others(26): Show |
CDK19 | ENSG00000155111.15 | transcript | ENST00000368911.8 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CDK19_chr6_110604978_110820469 | 110759428 | A | AAAAATAT | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG02071.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0266a0001c0001t0003g0224a0001c0001t0003g0226others(12): Show | 15 | 300 | 0.0500 | 7 | c.129 others(26): Show |
CDK19 | ENSG00000155111.15 | transcript | ENST00000368911.8 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CDK5R2_chr2_218954666_218967155 | 218966467 | A | ATATACAT | downstream_gene_variant | MODIFIER | HG03834.hp1 NA18991.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 388 | 0.0077 | 7 | c.*55 others(18): Show |
CDK5R2 | ENSG00000171450.6 | transcript | ENST00000302625.6 | protein_coding | 4313 | chr2 | TogoVar | ||||||
CDK5RAP2_chr9_120383875_120585167 | 120413807 | C | CGAGGAGG | intron_variant | MODIFIER | HG01069.hp2 HG01255.hp1 HG02572.hp1 others(2): Show |
a0002a0005a0014 | a0002c0037a0005c0009a0014c0030 | a0002c0037t0001a0005c0009t0001a0014c0030t0001 | a0002c0037t0001g0045a0005c0009t0001g0053a0005c0009t0001g0055others(2): Show | 5 | 232 | 0.0216 | 7 | c.429 others(26): Show |
CDK5RAP2 | ENSG00000136861.19 | transcript | ENST00000349780.9 | protein_coding | 28/37 | chr9 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20603768 | A | ATTTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0014a0001c0001t0015others(5): Show | a0001c0001t0001g0018a0001c0001t0014g0072a0001c0001t0015g0095others(5): Show | 8 | 196 | 0.0408 | 7 | c.287 others(26): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20784412 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG01167.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0003g0162a0001c0001t0005g0189a0001c0001t0006g0011others(9): Show | 12 | 196 | 0.0612 | 7 | c.638 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20799040 | G | GTTTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0071a0001c0001t0002g0172a0001c0001t0003g0082others(7): Show | 10 | 196 | 0.0510 | 7 | c.638 others(26): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20901699 | A | AAAAAAAG | intron_variant | MODIFIER | HG01496.hp2 HG02027.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0188a0001c0001t0005g0189a0001c0002t0001g0108others(2): Show | 5 | 196 | 0.0255 | 7 | c.743 others(26): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKL2_chr4_75571496_75635528 | 75613124 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(195): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0006a0001c0001t0001g0057a0001c0001t0001g0096others(190): Show | 198 | 306 | 0.6471 | 7 | c.363 others(24): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 3/13 | chr4 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134363957 | T | TAAAAAAA | intron_variant | MODIFIER | HG01496.hp1 HG02451.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0002t0001g0010others(2): Show | 5 | 210 | 0.0238 | 7 | c.165 others(24): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18507446 | C | CTTTTTTT | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0015 | 1 | 192 | 0.0052 | 7 | c.64+ others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18509246 | C | CACACACA | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0019 | 1 | 192 | 0.0052 | 7 | c.65- others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18642987 | G | GGCGGTTA | downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 192 | 0.0052 | 7 | c.*14 others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2792 | chrX | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36681376 | T | TTTCTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0066others(8): Show | 13 | 454 | 0.0286 | 7 | c.-6+ others(22): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
CDKN1C_chr11_2878218_2890775 | 2878233 | C | CCTTTTTT | downstream_gene_variant | MODIFIER | NA18939.hp1 NA18953.hp2 NA19063.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 4 | 417 | 0.0096 | 7 | c.*56 others(18): Show |
CDKN1C | ENSG00000129757.15 | transcript | ENST00000440480.8 | protein_coding | 4984 | chr11 | TogoVar | ||||||
CDKN1C_chr11_2878218_2890775 | 2884203 | A | AGGGCGCG | intron_variant | MODIFIER | HG00438.hp2 NA18947.hp2 NA18983.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0009a0002c0003t0001g0041 | 6 | 417 | 0.0144 | 7 | c.788 others(20): Show |
CDKN1C | ENSG00000129757.15 | transcript | ENST00000440480.8 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
CDKN3_chr14_54392007_54425218 | 54398987 | C | CTTTTTTT | intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG01884.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0025a0001c0001t0001g0044others(9): Show | 23 | 420 | 0.0548 | 7 | c.10- others(20): Show |
CDKN3 | ENSG00000100526.21 | transcript | ENST00000335183.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CDNF_chr10_14814245_14843037 | 14814974 | A | AAAAAAAG | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(103): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0061others(95): Show | 106 | 418 | 0.2536 | 7 | c.*50 others(18): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 4270 | chr10 | TogoVar | ||||||
CDRT4_chr17_15431015_15472621 | 15467047 | A | AACCCATC | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG02559.hp2 others(10): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0001 | a0002c0002t0002g0157a0002c0002t0002g0158a0004c0004t0001g0007others(5): Show | 13 | 430 | 0.0302 | 7 | c.-13 others(24): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CDSN_chr6_31110087_31125446 | 31118837 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01168.hp2 HG01169.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0017a0002c0002t0002g0076 | 9 | 446 | 0.0202 | 7 | c.86- others(22): Show |
CDSN | ENSG00000204539.4 | transcript | ENST00000376288.3 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
CDV3_chr3_133568686_133595261 | 133594433 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01070.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0013others(18): Show | 59 | 386 | 0.1529 | 7 | c.*63 others(18): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 4173 | chr3 | TogoVar | ||||||
CDX4_chrX_73442053_73460171 | 73459968 | C | CCACATGT | downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 289 | 0.0035 | 7 | c.*53 others(18): Show |
CDX4 | ENSG00000131264.4 | transcript | ENST00000373514.3 | protein_coding | 4798 | chrX | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80759881 | A | ATTTTTTC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(40): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0031others(58): Show | 61 | 258 | 0.2364 | 7 | c.24+ others(24): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80809251 | A | AGTATGAC | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01243.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0023others(49): Show | 52 | 258 | 0.2016 | 7 | c.-50 others(18): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 4654 | chr16 | TogoVar |