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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARD14_chr17_80165030_80214331 | 80197543 | A | AAAAAAAG | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp2 HG02976.hp1 others(8): Show |
a0004a0007a0023 | a0004c0008a0007c0011a0023c0049 | a0004c0008t0001a0007c0011t0003a0023c0049t0004 | a0004c0008t0001g0188 a0007c0011t0003g0010 a0007c0011t0003g0248 others(7): Show |
11 | 164 | 0.0671 | 7 | c.159 others(24): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD6_chr5_40836367_40860354 | 40850413 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00673.hp2 others(23): Show |
a0001a0002a0012others(1): Show | a0001c0002a0002c0003a0012c0015others(1): Show | a0001c0002t0001a0001c0002t0008a0002c0003t0004others(2): Show | a0001c0002t0001g0010 a0001c0002t0001g0026 a0001c0002t0001g0035 others(11): Show |
26 | 66 | 0.3939 | 7 | c.842 others(24): Show |
CARD6 | ENSG00000132357.14 | transcript | ENST00000254691.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48220952 | G | GAAAGGAA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01109.hp2 others(20): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0013others(1): Show | a0001c0003t0005a0001c0005t0045a0001c0013t0003others(4): Show | a0001c0003t0005g0005 a0001c0003t0005g0009 a0001c0003t0005g0125 others(15): Show |
23 | 254 | 0.0906 | 7 | c.116 others(24): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 11/13 | chr19 | TogoVar | |||||||
CARD8_chr19_48203086_48260912 | 48220954 | A | AAGGAAGG | intron_variant | MODIFIER | HG00423.hp2 HG01361.hp1 HG01943.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0008others(5): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0011others(14): Show | a0001c0002t0002g0094 a0001c0002t0002g0187 a0001c0002t0002g0200 others(22): Show |
27 | 129 | 0.2093 | 7 | c.116 others(24): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 11/13 | chr19 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8851977 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01081.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0037 others(10): Show |
13 | 88 | 0.1477 | 7 | c.*31 others(18): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8857261 | C | CTGTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG03130.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0034 | a0001c0001t0002g0196 a0001c0002t0002g0026 a0001c0002t0002g0167 others(1): Show |
4 | 445 | 0.0090 | 7 | c.281 others(24): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | C | CTTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG02040.hp1 HG02071.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0026a0001c0003t0016 | a0001c0001t0001g0095 a0001c0001t0001g0259 a0001c0001t0001g0265 others(7): Show |
10 | 109 | 0.0917 | 7 | c.-7- others(22): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25387114 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG02135.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0001others(6): Show | a0001c0001t0003g0118 a0001c0001t0008g0133 a0001c0002t0001g0010 others(7): Show |
10 | 52 | 0.1923 | 7 | c.139 others(26): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25490023 | T | TTTCTGGC | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG03139.hp1 others(2): Show |
a0001a0005a0006 | a0001c0003a0005c0019a0006c0016 | a0001c0003t0010a0005c0019t0005a0006c0016t0001others(1): Show | a0001c0003t0010g0183 a0005c0019t0005g0153 a0006c0016t0001g0045 others(2): Show |
5 | 184 | 0.0272 | 7 | c.106 others(26): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25594043 | A | ATTCTCAG | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(6): Show |
a0001a0003a0007 | a0001c0003a0001c0004a0001c0015others(4): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0007others(6): Show | a0001c0003t0002g0002 a0001c0003t0003g0124 a0001c0003t0007g0142 others(6): Show |
9 | 184 | 0.0489 | 7 | c.300 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40164750 | C | CTTTTTTT | intron_variant | MODIFIER | HG02148.hp2 HG02280.hp1 HG02922.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0001c0001t0004a0005c0005t0005 | a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(2): Show |
5 | 117 | 0.0427 | 7 | c.147 others(24): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CASP1_chr11_105020508_105040144 | 105035616 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01106.hp2 others(27): Show |
a0001a0005 | a0001c0002a0001c0004a0005c0008 | a0001c0002t0003a0001c0002t0006a0001c0004t0004others(1): Show | a0001c0002t0003g0003 a0001c0002t0003g0040 a0001c0002t0006g0012 others(7): Show |
30 | 359 | 0.0836 | 7 | c.-50 others(16): Show |
CASP1 | ENSG00000137752.25 | transcript | ENST00000533400.6 | protein_coding | 473 | chr11 | TogoVar | |||||||
CASP2_chr7_143283351_143312696 | 143291780 | C | CTTTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG01175.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 others(15): Show |
33 | 63 | 0.5238 | 7 | c.225 others(22): Show |
CASP2 | ENSG00000106144.20 | transcript | ENST00000310447.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASP3_chr4_184622696_184654447 | 184631542 | T | TCAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0003g0091 a0001c0001t0005g0014 a0001c0001t0005g0027 others(6): Show |
18 | 56 | 0.3214 | 7 | c.483 others(22): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 6/7 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109705999 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02735.hp1 NA18947.hp2 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0023 a0001c0001t0003g0126 |
3 | 299 | 0.0100 | 7 | c.-26 others(18): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2555 | chr4 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113687836 | C | CTTTCTTT | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01168.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0168 a0001c0001t0003g0018 a0001c0001t0003g0171 others(26): Show |
31 | 284 | 0.1092 | 7 | c.-1+ others(22): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113687890 | C | CTTTCTTT | intron_variant | MODIFIER | HG00738.hp2 HG04199.hp1 NA18964.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0002 | a0001c0001t0004g0084 a0003c0003t0002g0131 a0003c0003t0002g0133 others(1): Show |
4 | 331 | 0.0121 | 7 | c.-1+ others(22): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
CASP9_chr1_15486401_15529215 | 15524058 | C | CGGGGGCG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(212): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0001a0001c0002t0007a0001c0002t0010others(12): Show | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0008 others(155): Show |
215 | 348 | 0.6178 | 7 | c.132 others(19): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115748539 | C | CTCTTATT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(93): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0006others(7): Show | a0001c0001t0004g0217 a0001c0002t0001g0003 a0001c0002t0001g0046 others(91): Show |
96 | 362 | 0.2652 | 7 | c.235 others(24): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761528 | A | AGAAGAAG | intron_variant | MODIFIER | HG01109.hp1 HG02015.hp2 HG02165.hp1 others(6): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0003a0002c0004t0004 | a0002c0003t0001g0262 a0002c0003t0001g0291 a0002c0003t0001g0298 others(6): Show |
9 | 247 | 0.0364 | 7 | c.234 others(24): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74963074 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01243.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0002t0001a0001c0002t0033others(2): Show | a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0002t0001g0168 others(6): Show |
9 | 35 | 0.2571 | 7 | c.-19 others(18): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1630 | chr7 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74995511 | G | GAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(121): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(41): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0029 others(121): Show |
124 | 153 | 0.8105 | 7 | c.114 others(26): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CATIP_chr2_218351857_218373094 | 218359341 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG01168.hp2 others(16): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0008c0012t0001 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(12): Show |
19 | 182 | 0.1044 | 7 | c.376 others(24): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CATSPER1_chr11_66011752_66031479 | 66015714 | T | TCCTGGGC | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG02523.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0106 a0001c0001t0001g0120 |
6 | 406 | 0.0148 | 7 | c.*11 others(18): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 1037 | chr11 | TogoVar | |||||||
CATSPER1_chr11_66011752_66031479 | 66027488 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01109.hp2 others(46): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0002c0005others(6): Show | a0001c0001t0001a0002c0002t0002a0002c0005t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(27): Show |
49 | 135 | 0.3630 | 7 | c.-11 others(18): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 1010 | chr11 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91615885 | C | CTTTTTTT | intron_variant | MODIFIER | HG01074.hp2 HG01515.hp1 HG01517.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0045 others(16): Show |
20 | 70 | 0.2857 | 7 | c.240 others(26): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91640384 | T | TCCCTCCC | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00738.hp2 others(91): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0017 others(91): Show |
94 | 269 | 0.3494 | 7 | c.143 others(26): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91709524 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02055.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(24): Show |
27 | 56 | 0.4821 | 7 | c.371 others(24): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 5/26 | chr14 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5731560 | G | GTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp2 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0088 a0001c0001t0001g0105 a0001c0001t0001g0113 others(19): Show |
22 | 75 | 0.2933 | 7 | c.276 others(24): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5743606 | G | GAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(221): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0016a0001c0034others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0022 others(221): Show |
224 | 291 | 0.7698 | 7 | c.574 others(22): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5781378 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01169.hp2 HG01884.hp1 others(8): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0004a0004c0003others(1): Show | a0001c0001t0002a0003c0004t0001a0004c0003t0001others(1): Show | a0001c0001t0002g0101 a0001c0001t0002g0293 a0003c0004t0001g0142 others(8): Show |
11 | 211 | 0.0521 | 7 | c.*27 others(18): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 2645 | chr19 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244515920 | A | ATGGTGTC | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03471.hp1 |
a0001a0007 | a0001c0002a0007c0010 | a0001c0002t0001a0007c0010t0001 | a0001c0002t0001g0088 a0007c0010t0001g0137 a0007c0010t0001g0138 |
3 | 204 | 0.0147 | 7 | c.430 others(24): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244624128 | A | ATTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01346.hp2 HG01496.hp2 others(12): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(2): Show | a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0001g0064 others(12): Show |
15 | 16 | 0.9375 | 7 | c.264 others(26): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38333285 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00733.hp1 HG02027.hp1 HG02055.hp1 others(9): Show |
a0001a0002a0004others(3): Show | a0001c0007a0002c0003a0004c0006others(3): Show | a0001c0007t0001a0002c0003t0001a0004c0006t0001others(3): Show | a0001c0007t0001g0009 a0001c0007t0001g0034 a0001c0007t0001g0035 others(9): Show |
12 | 181 | 0.0663 | 7 | c.-26 others(18): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 2544 | chr19 | TogoVar | |||||||
CATSPERG_chr19_38330830_38375943 | 38339266 | A | AAGGAGCC | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG00735.hp2 others(81): Show |
a0002a0004a0006others(2): Show | a0002c0003a0004c0006a0004c0018others(3): Show | a0002c0003t0001a0004c0006t0001a0004c0018t0001others(3): Show | a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 others(78): Show |
84 | 374 | 0.2246 | 7 | c.324 others(24): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38357515 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG02027.hp1 HG02080.hp2 others(16): Show |
a0001a0002a0004others(2): Show | a0001c0005a0002c0003a0004c0006others(3): Show | a0001c0005t0001a0002c0003t0001a0004c0006t0001others(3): Show | a0001c0005t0001g0183 a0001c0005t0001g0204 a0002c0003t0001g0108 others(15): Show |
19 | 186 | 0.1022 | 7 | c.131 others(24): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38372981 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00673.hp2 HG02080.hp2 NA18939.hp1 others(10): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0010 a0004c0006t0001g0036 a0004c0006t0001g0037 others(9): Show |
13 | 236 | 0.0551 | 7 | c.*21 others(18): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 2039 | chr19 | TogoVar | |||||||
CAT_chr11_34433934_34477060 | 34466780 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00673.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 a0001c0002t0001g0033 a0001c0002t0001g0041 others(11): Show |
22 | 235 | 0.0936 | 7 | c.132 others(26): Show |
CAT | ENSG00000121691.7 | transcript | ENST00000241052.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42412560 | A | ATTTTTTT | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp2 HG02074.hp1 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0082 a0001c0001t0001g0189 a0001c0001t0002g0012 others(13): Show |
18 | 39 | 0.4615 | 7 | c.472 others(24): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33490236 | A | AGGCGGGC | 5_prime_UTR_variant | MODIFIER | HG01167.hp2 HG02486.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0162 a0001c0001t0012g0163 a0001c0001t0012g0164 others(1): Show |
4 | 296 | 0.0135 | 7 | c.-27 others(14): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/11 | 20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33559172 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014a0001c0001t0018others(1): Show | a0001c0001t0007g0009 a0001c0001t0007g0012 a0001c0001t0007g0013 others(4): Show |
7 | 159 | 0.0440 | 7 | c.35- others(24): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88906428 | T | TGCTCCCC | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0083 a0001c0001t0001g0086 others(5): Show |
8 | 282 | 0.0284 | 7 | c.152 others(24): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88910883 | T | TGCCCCCA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00544.hp2 others(72): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0018others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(11): Show | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(72): Show |
75 | 282 | 0.2660 | 7 | c.152 others(24): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67084165 | C | CAAAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02486.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 others(10): Show |
13 | 39 | 0.3333 | 7 | c.495 others(24): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105847429 | C | CACACACA | intron_variant | MODIFIER | HG02027.hp2 NA18993.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0018g0098 |
3 | 375 | 0.0080 | 7 | c.419 others(24): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44797574 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG02056.hp1 HG02071.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0036 a0001c0001t0001g0143 a0001c0001t0001g0267 others(16): Show |
21 | 303 | 0.0693 | 7 | c.136 others(26): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119260939 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01496.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0143 others(47): Show |
50 | 141 | 0.3546 | 7 | c.444 others(26): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119266018 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(88): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0138 a0001c0001t0001g0211 a0001c0001t0001g0216 others(85): Show |
91 | 184 | 0.4946 | 7 | c.444 others(24): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119270437 | T | TATATATA | intron_variant | MODIFIER | HG02818.hp2 HG03453.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0015 | a0001c0001t0002g0304 a0001c0004t0015g0016 a0001c0004t0015g0017 |
3 | 344 | 0.0087 | 7 | c.444 others(24): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | chr11 | TogoVar | |||||||
CBR3_chr21_36130079_36151562 | 36141261 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG01167.hp2 HG02280.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 a0002c0002t0001g0072 a0002c0002t0001g0091 others(8): Show |
12 | 73 | 0.1644 | 7 | c.397 others(24): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |