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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMTA1_chr1_6780454_7774706 | 7103562 | CACACA | C | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG01243.hp2 others(11): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0005a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0002g0002 others(11): Show |
14 | 58 | 0.2414 | -5 | c.302 others(24): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7219542 | TAAAAA | T | intron_variant | MODIFIER | HG00558.hp1 HG01884.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0003a0001c0001t0012a0001c0001t0013others(1): Show | a0001c0001t0003g0047 a0001c0001t0012g0019 a0001c0001t0013g0056 others(1): Show |
4 | 11 | 0.3636 | -5 | c.303 others(24): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7411529 | CAAAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG01243.hp2 HG01884.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0040 others(25): Show |
28 | 30 | 0.9333 | -5 | c.439 others(24): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7511458 | CTCCTG | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG02132.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(1): Show | a0001c0001t0001g0040 a0001c0001t0003g0047 a0001c0002t0003g0025 others(1): Show |
4 | 58 | 0.0690 | -5 | c.510 others(24): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7601984 | ACCGTG | A | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0006 a0001c0001t0002g0002 a0001c0002t0001g0020 others(2): Show |
5 | 58 | 0.0862 | -5 | c.511 others(24): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | chr1 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7768113 | TAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01496.hp1 others(8): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0015others(5): Show | a0001c0001t0003g0022 a0001c0001t0003g0047 a0001c0001t0003g0048 others(8): Show |
11 | 38 | 0.2895 | -5 | c.*16 others(16): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 23/23 | 1636 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAND2_chr3_12791680_12839803 | 12793450 | ACTGAT | A | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02630.hp1 HG06807.hp1 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0002a0001c0007t0001 | a0001c0005t0002g0364 a0001c0007t0001g0366 a0001c0007t0001g0367 |
3 | 376 | 0.0080 | -5 | c.-32 others(16): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 3229 | chr3 | TogoVar | |||||||
CAND2_chr3_12791680_12839803 | 12802328 | AAAAAC | A | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02055.hp2 others(24): Show |
a0001a0007a0015others(3): Show | a0001c0007a0001c0035a0007c0011others(4): Show | a0001c0007t0001a0001c0007t0002a0001c0035t0002others(5): Show | a0001c0007t0001g0189 a0001c0007t0001g0191 a0001c0007t0001g0193 others(24): Show |
27 | 376 | 0.0718 | -5 | c.69- others(20): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CANX_chr5_179693967_179736641 | 179694144 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01109.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0181 a0001c0001t0003g0065 a0001c0001t0003g0073 others(6): Show |
9 | 104 | 0.0865 | -5 | c.-49 others(16): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 4822 | chr5 | TogoVar | |||||||
CAP1_chr1_40035729_40077648 | 40068826 | TTTTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(129): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(76): Show |
132 | 376 | 0.3511 | -5 | c.809 others(20): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40075958 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00609.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0033 others(32): Show |
58 | 84 | 0.6905 | -5 | c.*44 others(16): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 3311 | chr1 | TogoVar | |||||||
CAP2_chr6_17388595_17562780 | 17461992 | CAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG01884.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0069 a0001c0001t0001g0159 a0001c0001t0001g0196 others(5): Show |
8 | 48 | 0.1667 | -5 | c.223 others(20): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17469030 | CCACCT | C | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0008t0001others(2): Show | a0001c0001t0002g0038 a0001c0002t0001g0144 a0001c0002t0001g0145 others(3): Show |
6 | 204 | 0.0294 | -5 | c.300 others(22): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17483210 | GTGTCT | G | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0099 a0001c0002t0001g0100 |
2 | 204 | 0.0098 | -5 | c.300 others(24): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17550394 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(67): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0019 others(67): Show |
70 | 97 | 0.7216 | -5 | c.121 others(24): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181648 | CAACCA | C | intron_variant | MODIFIER | NA18990.hp2 NA19006.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0034 |
3 | 458 | 0.0066 | -5 | c.193 others(22): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | chr6 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735767 | GGGGGC | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(55): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0001g0052 others(51): Show |
58 | 326 | 0.1779 | -5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735792 | GGGGGC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(105): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(88): Show |
108 | 332 | 0.3253 | -5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735837 | GGGGGC | G | intron_variant | MODIFIER | HG02300.hp1 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001a0002a0006others(1): Show | a0001c0002a0002c0004a0006c0009others(1): Show | a0001c0002t0002a0002c0004t0001a0006c0009t0003others(1): Show | a0001c0002t0002g0178 a0002c0004t0001g0059 a0006c0009t0003g0012 others(1): Show |
6 | 248 | 0.0242 | -5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735855 | GGCGGT | G | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01433.hp1 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0001others(5): Show | a0001c0001t0001g0051 a0001c0001t0001g0084 a0001c0001t0001g0105 others(18): Show |
21 | 340 | 0.0618 | -5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735867 | GCGGGC | G | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp1 HG01192.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0004a0004c0008others(1): Show | a0001c0001t0001a0002c0004t0001a0004c0008t0003others(1): Show | a0001c0001t0001g0083 a0001c0001t0001g0084 a0002c0004t0001g0061 others(4): Show |
7 | 330 | 0.0212 | -5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735868 | CGGGCG | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00558.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0016 others(12): Show |
18 | 179 | 0.1006 | -5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735907 | GGGGGC | G | intron_variant | MODIFIER | HG00140.hp2 HG01169.hp2 HG01175.hp1 others(10): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0080 a0001c0001t0001g0148 a0001c0001t0003g0295 others(10): Show |
13 | 308 | 0.0422 | -5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38739535 | CAAAAG | C | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00738.hp1 others(20): Show |
a0003a0010 | a0003c0005a0010c0018 | a0003c0005t0004a0010c0018t0004 | a0003c0005t0004g0019 a0003c0005t0004g0020 a0003c0005t0004g0021 others(20): Show |
23 | 340 | 0.0676 | -5 | c.729 others(20): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 5/20 | chr19 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30745894 | ATTTTT | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(44): Show |
a0001a0013a0014 | a0001c0001a0001c0002a0013c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0109 a0001c0001t0001g0135 a0001c0001t0001g0141 others(44): Show |
47 | 142 | 0.3310 | -5 | c.123 others(22): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 11/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30799746 | ATGAAG | A | intron_variant | MODIFIER | HG02280.hp2 HG03471.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0268 others(1): Show |
4 | 382 | 0.0105 | -5 | c.-33 others(22): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN1_chr11_65176928_65217006 | 65207914 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(343): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(255): Show |
346 | 392 | 0.8827 | -5 | c.160 others(22): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223711607 | CATTTT | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(110): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0003a0001c0010others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(14): Show | a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0007 others(100): Show |
113 | 376 | 0.3005 | -5 | c.-10 others(16): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 931 | chr1 | TogoVar | |||||||
CAPN2_chr1_223707539_223781018 | 223730010 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0002t0003a0001c0003t0001others(8): Show | a0001c0001t0002g0211 a0001c0002t0003g0100 a0001c0003t0001g0026 others(29): Show |
33 | 192 | 0.1719 | -5 | c.307 others(24): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223742514 | ATATAT | A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG02080.hp1 others(11): Show |
a0003a0005a0009others(1): Show | a0003c0023a0005c0008a0009c0034others(1): Show | a0003c0023t0002a0005c0008t0004a0009c0034t0004others(1): Show | a0003c0023t0002g0113 a0003c0023t0002g0117 a0005c0008t0004g0010 others(10): Show |
14 | 370 | 0.0378 | -5 | c.308 others(22): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN7_chr3_15201246_15257916 | 15229556 | TTTTTC | T | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(17): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0006a0003c0004t0003others(2): Show | a0001c0001t0003g0256 a0001c0001t0003g0261 a0001c0001t0003g0262 others(17): Show |
20 | 371 | 0.0539 | -5 | c.938 others(20): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAPN7_chr3_15201246_15257916 | 15250543 | ACCCCT | A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014 | a0001c0001t0009g0037 a0001c0001t0009g0208 a0001c0001t0014g0277 |
4 | 374 | 0.0107 | -5 | c.220 others(22): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 19/20 | chr3 | TogoVar | |||||||
CAPN9_chr1_230742388_230806989 | 230746265 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00735.hp2 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(8): Show | a0001c0001t0001g0020 a0001c0001t0001g0240 a0001c0001t0001g0241 others(38): Show |
44 | 127 | 0.3465 | -5 | c.-12 others(16): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1122 | chr1 | TogoVar | |||||||
CAPN9_chr1_230742388_230806989 | 230789473 | CAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01257.hp2 HG02486.hp2 others(3): Show |
a0002 | a0002c0006a0002c0013a0002c0031 | a0002c0006t0001a0002c0013t0001a0002c0013t0002others(1): Show | a0002c0006t0001g0030 a0002c0013t0001g0046 a0002c0013t0001g0093 others(3): Show |
6 | 182 | 0.0330 | -5 | c.160 others(22): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPNS2_chr16_55561684_55572687 | 55562551 | AAATAT | A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 |
10 | 410 | 0.0244 | -5 | c.-42 others(16): Show |
CAPNS2 | ENSG00000256812.2 | transcript | ENST00000457326.3 | protein_coding | 4132 | chr16 | TogoVar | |||||||
CAPRIN1_chr11_34046731_34107610 | 34054065 | ATAAGT | A | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0023 |
3 | 244 | 0.0123 | -5 | c.216 others(22): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34056295 | CTTAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01884.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 others(24): Show |
27 | 244 | 0.1107 | -5 | c.216 others(22): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34061200 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 a0001c0001t0003g0032 a0001c0001t0003g0033 others(2): Show |
5 | 198 | 0.0253 | -5 | c.216 others(22): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34089258 | GACACT | G | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 |
3 | 231 | 0.0130 | -5 | c.123 others(22): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 11/18 | chr11 | TogoVar | |||||||
CAPRIN1_chr11_34046731_34107610 | 34089261 | ACTCCC | A | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00642.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0024others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(26): Show |
31 | 100 | 0.3100 | -5 | c.123 others(22): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34089835 | TTATAA | T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01884.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0079 a0001c0001t0003g0014 a0001c0001t0003g0028 others(9): Show |
12 | 244 | 0.0492 | -5 | c.129 others(22): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34103735 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0086 a0001c0001t0001g0093 others(10): Show |
13 | 55 | 0.2364 | -5 | c.*43 others(16): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1126 | chr11 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30740433 | AAAAGT | A | intron_variant | MODIFIER | HG00738.hp1 HG01884.hp1 HG02647.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 a0002c0002t0001g0051 a0002c0002t0001g0131 others(5): Show |
9 | 376 | 0.0239 | -5 | c.327 others(20): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 4/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30751790 | TTATCA | T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp1 others(241): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0009others(10): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(14): Show | a0001c0001t0001g0022 a0001c0001t0001g0062 a0001c0001t0001g0063 others(167): Show |
244 | 376 | 0.6489 | -5 | c.178 others(20): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 2/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30756089 | TGAGGA | T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00738.hp2 others(51): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0001g0082 a0002c0002t0001g0005 a0002c0002t0001g0007 others(32): Show |
54 | 376 | 0.1436 | -5 | c.-13 others(16): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 1139 | chr12 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112627636 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(203): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(191): Show |
206 | 235 | 0.8766 | -5 | c.39+ others(20): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112648347 | CTTTTT | C | intron_variant | MODIFIER | HG02818.hp1 HG03041.hp2 HG03098.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0005 | a0001c0001t0001g0023 a0001c0003t0005g0252 a0001c0003t0005g0253 others(4): Show |
7 | 267 | 0.0262 | -5 | c.104 others(22): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112659581 | TCTCTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(107): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(103): Show |
110 | 366 | 0.3005 | -5 | c.507 others(20): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | CTTTTT | C | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01123.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 others(4): Show |
7 | 10 | 0.7000 | -5 | c.40- others(20): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19333899 | CAAACA | C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01433.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0311 |
3 | 189 | 0.0159 | -5 | c.*56 others(16): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4875 | chr1 | TogoVar |