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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDK15_chr2_201801537_201900550 | 201833716 | C | CTTCTTCT | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0001g0308 a0001c0001t0007g0020 a0001c0001t0009g0286 others(3): Show |
6 | 300 | 0.0200 | 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 | a0001c0001t0001a0001c0001t0012a0001c0001t0021others(3): Show | a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0012g0129 others(5): Show |
8 | 309 | 0.0259 | 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 | a0001c0001t0001g0179 a0001c0001t0001g0199 a0001c0001t0001g0243 others(2): Show |
5 | 386 | 0.0130 | 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 | a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0256 others(4): Show |
7 | 69 | 0.1014 | 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 | a0001c0001t0002g0266 a0001c0001t0003g0224 a0001c0001t0003g0226 others(12): Show |
15 | 77 | 0.1948 | 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 | 341 | 0.0088 | 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 | a0002c0037t0001g0044 a0005c0009t0001g0052 a0005c0009t0001g0054 others(2): Show |
5 | 229 | 0.0218 | 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 | a0001c0001t0001g0018 a0001c0001t0014g0072 a0001c0001t0015g0095 others(5): Show |
8 | 61 | 0.1311 | 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 | a0001c0001t0003g0162 a0001c0001t0005g0189 a0001c0001t0006g0011 others(9): Show |
12 | 17 | 0.7059 | 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 | a0001c0001t0001g0071 a0001c0001t0002g0171 a0001c0001t0003g0082 others(7): Show |
10 | 32 | 0.3125 | 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 | a0001c0001t0001g0188 a0001c0001t0005g0189 a0001c0002t0001g0108 others(2): Show |
5 | 14 | 0.3571 | 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 | a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0098 others(189): Show |
198 | 245 | 0.8082 | 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 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0002t0001g0012 others(2): Show |
5 | 186 | 0.0269 | 7 | c.165 others(24): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
CDKN1A_chr6_36673714_36692332 | 36681376 | T | TTTCTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0066 others(8): Show |
13 | 452 | 0.0288 | 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 | 57 | 0.0702 | 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 | a0001c0001t0001g0008 a0002c0003t0001g0037 |
6 | 415 | 0.0145 | 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 |
a0001a0004 | a0001c0001a0004c0002 | a0001c0001t0001a0004c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0044 others(9): Show |
23 | 161 | 0.1429 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0024 others(86): Show |
106 | 288 | 0.3681 | 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 | a0002c0002t0002g0157 a0002c0002t0002g0158 a0004c0004t0001g0007 others(5): Show |
13 | 428 | 0.0304 | 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 | a0002c0002t0002g0017 a0002c0002t0002g0077 |
9 | 299 | 0.0301 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(18): Show |
59 | 68 | 0.8676 | 7 | c.*63 others(18): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 4173 | chr3 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0031 others(58): Show |
61 | 256 | 0.2383 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0023 others(49): Show |
52 | 256 | 0.2031 | 7 | c.-50 others(18): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 4654 | chr16 | TogoVar | |||||||
CDYL_chr6_4771404_4960544 | 4788480 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01167.hp2 HG02602.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0093 others(4): Show |
7 | 61 | 0.1148 | 7 | c.24+ others(24): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4819331 | A | ATTACTAC | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(5): Show | a0001c0001t0002g0019 a0001c0001t0002g0124 a0001c0001t0002g0153 others(10): Show |
13 | 248 | 0.0524 | 7 | c.24+ others(24): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4821260 | C | CTTTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01257.hp1 others(11): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0085 others(10): Show |
14 | 92 | 0.1522 | 7 | c.24+ others(24): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEACAM19_chr19_44666482_44689355 | 44668130 | T | TTATATAA | upstream_gene_variant | MODIFIER | HG00738.hp1 HG02258.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0068 a0001c0001t0007g0069 a0001c0001t0007g0071 others(1): Show |
4 | 388 | 0.0103 | 7 | c.-38 others(18): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3351 | chr19 | TogoVar | |||||||
CEACAM19_chr19_44666482_44689355 | 44668398 | A | ATTATTAT | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01515.hp2 HG01517.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0002g0001 |
5 | 388 | 0.0129 | 7 | c.-35 others(18): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3083 | chr19 | TogoVar | |||||||
CEACAM19_chr19_44666482_44689355 | 44668700 | T | TTATATTA | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01358.hp2 HG01361.hp1 others(33): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0031 others(21): Show |
36 | 385 | 0.0935 | 7 | c.-32 others(18): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 2781 | chr19 | TogoVar | |||||||
CEACAM3_chr19_41791587_41816554 | 41803471 | T | TTTTTTTG | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(167): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0120 a0001c0001t0002g0002 others(48): Show |
170 | 408 | 0.4167 | 7 | c.425 others(24): Show |
CEACAM3 | ENSG00000170956.17 | transcript | ENST00000357396.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CEACAM5_chr19_41703626_41735433 | 41705689 | A | ACAGGGCT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01099.hp2 others(28): Show |
a0003a0004a0011 | a0003c0003a0004c0004a0011c0010 | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(3): Show | a0003c0003t0001g0017 a0003c0003t0002g0113 a0003c0003t0003g0007 others(12): Show |
31 | 372 | 0.0833 | 7 | c.-30 others(18): Show |
CEACAM5 | ENSG00000105388.17 | transcript | ENST00000221992.11 | protein_coding | 2936 | chr19 | TogoVar | |||||||
CEACAM8_chr19_42575243_42599924 | 42581918 | A | ATATATAT | intron_variant | MODIFIER | HG01099.hp1 HG01978.hp2 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0025 |
3 | 248 | 0.0121 | 7 | c.*41 others(22): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
CEACAM8_chr19_42575243_42599924 | 42581920 | A | AAATATAT | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG02622.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0114 a0002c0002t0002g0021 |
7 | 70 | 0.1000 | 7 | c.*41 others(22): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
CEACAM8_chr19_42575243_42599924 | 42584202 | T | TACACACA | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02615.hp1 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0020 a0003c0004t0003g0121 a0003c0004t0003g0122 others(1): Show |
6 | 295 | 0.0203 | 7 | c.959 others(22): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
CEBPD_chr8_47731913_47743164 | 47740915 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01928.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 a0002c0004t0001g0000 |
31 | 129 | 0.2403 | 7 | c.-27 others(18): Show |
CEBPD | ENSG00000221869.5 | transcript | ENST00000408965.4 | protein_coding | 2752 | chr8 | TogoVar | |||||||
CEBPZOS_chr2_37191496_37209743 | 37204360 | C | CTCTGCCT | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(90): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0020others(8): Show | a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0011 others(12): Show |
93 | 464 | 0.2004 | 7 | c.*25 others(18): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 5/5 | 2648 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEBPZ_chr2_37196612_37236596 | 37204360 | C | CTCTGCCT | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(83): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(58): Show |
86 | 436 | 0.1972 | 7 | c.288 others(26): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 13/15 | chr2 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17405468 | A | AATAAAAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(127): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0008others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0042 others(127): Show |
130 | 322 | 0.4037 | 7 | c.126 others(26): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17466598 | C | CCTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01070.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0280 a0001c0001t0002g0222 a0001c0001t0002g0241 others(22): Show |
25 | 270 | 0.0926 | 7 | c.127 others(26): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | chr22 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17525285 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01346.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0063 a0001c0001t0001g0115 a0001c0001t0001g0116 others(8): Show |
11 | 167 | 0.0659 | 7 | c.110 others(26): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | chr22 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17552774 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(111): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0063 others(111): Show |
114 | 232 | 0.4914 | 7 | c.439 others(22): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CELA3A_chr1_21996657_22017542 | 22004073 | T | TTTCTTTG | intron_variant | MODIFIER | HG02895.hp1 HG03209.hp1 HG03453.hp1 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0026 a0002c0006t0001g0064 |
3 | 418 | 0.0072 | 7 | c.129 others(22): Show |
CELA3A | ENSG00000142789.20 | transcript | ENST00000290122.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELA3A_chr1_21996657_22017542 | 22008152 | C | CTTTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG02257.hp1 HG02486.hp1 others(8): Show |
a0002a0011 | a0002c0006a0002c0007a0011c0019 | a0002c0006t0001a0002c0007t0001a0011c0019t0001 | a0002c0006t0001g0026 a0002c0006t0001g0041 a0002c0006t0001g0064 others(6): Show |
11 | 104 | 0.1058 | 7 | c.642 others(22): Show |
CELA3A | ENSG00000142789.20 | transcript | ENST00000290122.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELA3B_chr1_21972022_21994354 | 21972454 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG01891.hp1 others(8): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0031 a0001c0003t0001g0006 a0001c0003t0001g0016 others(6): Show |
11 | 163 | 0.0675 | 7 | c.-45 others(18): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 4567 | chr1 | TogoVar | |||||||
CELF1_chr11_47460937_47558132 | 47489935 | G | GTTTTTTT | intron_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG03041.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 others(6): Show |
9 | 76 | 0.1184 | 7 | c.72- others(20): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3/14 | chr11 | TogoVar | |||||||
CELF1_chr11_47460937_47558132 | 47547065 | C | CAAAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01243.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0026 a0001c0001t0001g0126 a0001c0001t0001g0158 others(19): Show |
22 | 32 | 0.6875 | 7 | c.-15 others(26): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CELF2_chr10_11012872_11341675 | 11059410 | T | TTAAGACC | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(36): Show | a0001c0001t0001g0010 a0001c0001t0001g0108 a0001c0001t0003g0007 others(52): Show |
55 | 192 | 0.2865 | 7 | c.74+ others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11086578 | T | TAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0172 a0001c0001t0003g0071 a0001c0001t0003g0169 others(2): Show |
5 | 28 | 0.1786 | 7 | c.74+ others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11308840 | C | CTAGGGTG | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00621.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(17): Show | a0001c0001t0001g0175 a0001c0001t0002g0172 a0001c0001t0008g0081 others(42): Show |
45 | 192 | 0.2344 | 7 | c.977 others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF3_chr1_151695058_151721803 | 151696669 | T | TTTTTTTC | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02280.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0049a0002c0002t0009 | a0001c0001t0009g0021 a0001c0001t0009g0092 a0001c0001t0049g0133 others(1): Show |
8 | 426 | 0.0188 | 7 | c.*67 others(18): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3388 | chr1 | TogoVar |