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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDH9_chr5_26875597_27043586 | 26951945 | ATTTATTT others(13): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0238 | 1 | 240 | 0.0042 | -20 | c.229 others(39): Show |
CDH9 | ENSG00000113100.10 | transcript | ENST00000231021.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
CDHR3_chr7_105958264_106041432 | 106028916 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02738.hp1 HG02896.hp1 others(1): Show |
a0001a0004 | a0001c0002a0004c0011 | a0001c0002t0001a0004c0011t0007 | a0001c0002t0001g0251a0004c0011t0007g0277a0004c0011t0007g0278others(1): Show | 4 | 358 | 0.0112 | -20 | c.230 others(37): Show |
CDHR3 | ENSG00000128536.16 | transcript | ENST00000317716.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDHR3_chr7_105958264_106041432 | 106038159 | GTATATAT others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG03688.hp1 |
a0001a0002 | a0001c0004a0002c0012 | a0001c0004t0001a0002c0012t0001 | a0001c0004t0001g0025a0001c0004t0001g0133a0002c0012t0001g0177 | 3 | 358 | 0.0084 | -20 | c.*54 others(31): Show |
CDHR3 | ENSG00000128536.16 | transcript | ENST00000317716.14 | protein_coding | 1728 | chr7 | TogoVar | ||||||
CDHR4_chr3_49785732_49804873 | 49790111 | TTCTCTCT others(13): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 354 | 0.0028 | -20 | c.*70 others(29): Show |
CDHR4 | ENSG00000187492.9 | transcript | ENST00000412678.7 | protein_coding | 620 | chr3 | TogoVar | ||||||
CDHR4_chr3_49785732_49804873 | 49790225 | GCGCACAC others(13): Show |
G | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 354 | 0.0028 | -20 | c.*58 others(29): Show |
CDHR4 | ENSG00000187492.9 | transcript | ENST00000412678.7 | protein_coding | 506 | chr3 | TogoVar | ||||||
CDHR5_chr11_611583_629955 | 628939 | TTCTTTCT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0009 | 1 | 409 | 0.0024 | -20 | c.-40 others(31): Show |
CDHR5 | ENSG00000099834.19 | transcript | ENST00000397542.7 | protein_coding | 3985 | chr11 | TogoVar | ||||||
CDIN1_chr15_36574626_36815244 | 36650402 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0232 | 1 | 238 | 0.0042 | -20 | c.213 others(37): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36701118 | GTAGGTAG others(13): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02486.hp1 HG02647.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0115a0001c0001t0002g0008a0001c0001t0007g0092others(3): Show | 6 | 238 | 0.0252 | -20 | c.544 others(37): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36788094 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0079 | 1 | 238 | 0.0042 | -20 | c.717 others(39): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36788096 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0132 | 1 | 238 | 0.0042 | -20 | c.717 others(39): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36800907 | GTGTATAT others(13): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02559.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0022a0001c0001t0027others(2): Show | a0001c0001t0001g0150a0001c0001t0022g0102a0001c0001t0027g0005others(2): Show | 5 | 238 | 0.0210 | -20 | c.717 others(37): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36800909 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG03486.hp1 NA19085.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0214a0002c0002t0001g0217a0002c0002t0002g0047 | 3 | 238 | 0.0126 | -20 | c.717 others(37): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIP1_chr16_4505669_4543773 | 4519390 | GTTCCATG others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0117 | 2 | 323 | 0.0062 | -20 | c.-10 others(39): Show |
CDIP1 | ENSG00000089486.17 | transcript | ENST00000567695.6 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
CDK12_chr17_39456486_39539544 | 39466615 | GAAAAAAA others(13): Show |
G | intron_variant | MODIFIER | HG02738.hp2 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0018 | a0001c0001t0012g0095a0001c0001t0018g0094 | 2 | 260 | 0.0077 | -20 | c.104 others(39): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDK12_chr17_39456486_39539544 | 39481633 | GCTCTCTC others(13): Show |
G | intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 260 | 0.0039 | -20 | c.193 others(39): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDK12_chr17_39456486_39539544 | 39481692 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0097 | 1 | 260 | 0.0039 | -20 | c.193 others(39): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDK12_chr17_39456486_39539544 | 39532102 | TTCTCTCT others(13): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01433.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0148a0001c0001t0026g0163 | 2 | 260 | 0.0077 | -20 | c.*80 others(29): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 14/14 | 808 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
CDK13_chr7_39945256_40104580 | 40003190 | ACACACAC others(13): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 322 | 0.0031 | -20 | c.235 others(39): Show |
CDK13 | ENSG00000065883.18 | transcript | ENST00000181839.10 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK13_chr7_39945256_40104580 | 40003192 | ACACACAC others(13): Show |
A | intron_variant | MODIFIER | NA18944.hp2 NA18951.hp1 NA18978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0003g0180others(1): Show | 4 | 322 | 0.0124 | -20 | c.235 others(39): Show |
CDK13 | ENSG00000065883.18 | transcript | ENST00000181839.10 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK13_chr7_39945256_40104580 | 40102612 | ATTTATTT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0292a0001c0001t0004g0293 | 2 | 322 | 0.0062 | -20 | c.*76 others(31): Show |
CDK13 | ENSG00000065883.18 | transcript | ENST00000181839.10 | protein_coding | 3033 | chr7 | TogoVar | ||||||
CDK14_chr7_90591321_91215590 | 90601922 | TTATGTAT others(13): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 168 | 0.0060 | -20 | c.92- others(35): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90630038 | CAAACAAA others(13): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00621.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0029a0001c0001t0001g0050a0001c0001t0001g0053others(55): Show | 58 | 168 | 0.3452 | -20 | c.123 others(39): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90649236 | GTTTCTTT others(13): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 168 | 0.0060 | -20 | c.123 others(39): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90649293 | TTTCTTTC others(13): Show |
T | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 168 | 0.0060 | -20 | c.123 others(39): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90649297 | TTTCTTTC others(13): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG03490.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012 | a0001c0001t0001g0150a0001c0001t0004g0162a0001c0001t0012g0100 | 3 | 168 | 0.0179 | -20 | c.123 others(39): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90649301 | TTTCTTTC others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0158a0001c0001t0002g0152a0001c0001t0005g0007 | 3 | 168 | 0.0179 | -20 | c.123 others(39): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90895429 | TCCTCTCC others(13): Show |
T | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0166 | 1 | 168 | 0.0060 | -20 | c.640 others(37): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91010815 | TCCTTCCT others(13): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00673.hp1 others(25): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0125a0001c0001t0001g0136a0001c0001t0001g0139others(25): Show | 28 | 168 | 0.1667 | -20 | c.104 others(41): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91027795 | CCCTCCCC others(13): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01106.hp1 others(24): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0074others(24): Show | 27 | 168 | 0.1607 | -20 | c.104 others(41): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91147158 | TCTCTCAC others(13): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0038 | 1 | 168 | 0.0060 | -20 | c.*28 others(39): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91186141 | TCCTCTCC others(13): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00673.hp2 others(77): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(77): Show | 80 | 168 | 0.4762 | -20 | c.*29 others(39): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK15_chr2_201801537_201900550 | 201837447 | AAAGGAAG others(13): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG01256.hp2 others(24): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0192a0001c0001t0002g0204a0001c0001t0003g0041others(23): Show | 27 | 322 | 0.0839 | -20 | c.851 others(37): Show |
CDK15 | ENSG00000138395.17 | transcript | ENST00000652192.3 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CDK17_chr12_96273261_96405439 | 96311247 | AACATATT others(13): Show |
A | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 346 | 0.0029 | -20 | c.418 others(33): Show |
CDK17 | ENSG00000059758.8 | transcript | ENST00000261211.8 | protein_coding | 4/16 | chr12 | TogoVar | ||||||
CDK19_chr6_110604978_110820469 | 110617662 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 300 | 0.0033 | -20 | c.137 others(39): Show |
CDK19 | ENSG00000155111.15 | transcript | ENST00000368911.8 | protein_coding | 12/12 | chr6 | TogoVar | ||||||
CDK4_chr12_57742727_57757310 | 57750153 | CAATAAAT others(13): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 364 | 0.0055 | -20 | c.632 others(35): Show |
CDK4 | ENSG00000135446.17 | transcript | ENST00000257904.11 | protein_coding | 5/7 | chr12 | TogoVar | ||||||
CDK6_chr7_92599921_92841573 | 92601186 | TTAATGTA others(13): Show |
T | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02258.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0017others(3): Show | a0001c0001t0006g0086a0001c0001t0010g0102a0001c0001t0017g0105others(3): Show | 6 | 124 | 0.0484 | -20 | c.*13 others(33): Show |
CDK6 | ENSG00000105810.10 | transcript | ENST00000424848.3 | protein_coding | 3734 | chr7 | TogoVar | ||||||
CDK6_chr7_92599921_92841573 | 92748928 | GCGATGGC others(13): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0034 | 1 | 124 | 0.0081 | -20 | c.370 others(39): Show |
CDK6 | ENSG00000105810.10 | transcript | ENST00000424848.3 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20612990 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0131 | 1 | 196 | 0.0051 | -20 | c.287 others(39): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20613249 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG02258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0028others(6): Show | a0001c0001t0001g0096a0001c0001t0001g0104a0001c0001t0004g0097others(7): Show | 10 | 196 | 0.0510 | -20 | c.287 others(39): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20672285 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0179 | 1 | 196 | 0.0051 | -20 | c.371 others(39): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20676665 | TTAAATAA others(13): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02257.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0011others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(2): Show | a0001c0001t0001g0003a0001c0004t0001g0099a0001c0004t0001g0101others(3): Show | 6 | 196 | 0.0306 | -20 | c.371 others(39): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20748554 | GGAAAAAA others(13): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00642.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0065a0001c0001t0001g0070a0001c0001t0002g0042others(23): Show | 26 | 196 | 0.1327 | -20 | c.468 others(37): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20756834 | TCCTTTCT others(13): Show |
T | intron_variant | MODIFIER | HG04184.hp1 | a0005 | a0005c0014 | a0005c0014t0008 | a0005c0014t0008g0119 | 1 | 196 | 0.0051 | -20 | c.469 others(37): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20756854 | CCCTTCCT others(13): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp2 |
a0001 | a0001c0005a0001c0008 | a0001c0005t0007a0001c0008t0011 | a0001c0005t0007g0084a0001c0008t0011g0181 | 2 | 196 | 0.0102 | -20 | c.469 others(37): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20756905 | TTCCTTCC others(13): Show |
T | intron_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0036 | 1 | 196 | 0.0051 | -20 | c.469 others(37): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20810392 | TCACACAC others(13): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02818.hp1 HG03579.hp2 |
a0001a0002 | a0001c0002a0001c0013a0002c0007 | a0001c0002t0034a0001c0013t0004a0002c0007t0029 | a0001c0002t0034g0182a0001c0013t0004g0006a0002c0007t0029g0014 | 3 | 196 | 0.0153 | -20 | c.638 others(39): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21091857 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0025a0001c0002t0034 | a0001c0001t0025g0021a0001c0002t0034g0182 | 2 | 196 | 0.0102 | -20 | c.123 others(41): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21093694 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0041 | a0001c0001t0001g0003a0001c0002t0041g0012 | 2 | 196 | 0.0102 | -20 | c.123 others(41): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21195477 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01192.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0002g0172a0001c0001t0003g0113a0001c0001t0003g0149others(10): Show | 13 | 196 | 0.0663 | -20 | c.130 others(39): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKL1_chr14_50321265_50401881 | 50341200 | CCACGTAG others(13): Show |
C | frameshift_variant | HIGH | HG03688.hp1 | a0007 | a0007c0007 | a0007c0007t0145 | a0007c0007t0145g0304 | 1 | 306 | 0.0033 | -20 | c.467 others(27): Show |
p.Asp others(5): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/10 | 1005/5402 | 467/1074 | 156/357 | chr14 | TogoVar |