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 | 6963270 | G | GCCCCCCC others(10): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 46 | 0.0217 | 17 | c.235 others(38): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7568282 | T | TCATCATC others(10): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(16): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(12): Show | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0036 others(16): Show |
19 | 51 | 0.3725 | 17 | c.511 others(36): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7579552 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02630.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0026 a0001c0001t0004g0034 a0001c0001t0013g0056 |
3 | 33 | 0.0909 | 17 | c.511 others(36): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAND2_chr3_12791680_12839803 | 12812221 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 HG01496.hp1 others(11): Show |
a0008a0013a0018others(2): Show | a0008c0008a0013c0014a0018c0021others(2): Show | a0008c0008t0001a0008c0008t0003a0013c0014t0001others(3): Show | a0008c0008t0001g0014 a0008c0008t0001g0015 a0008c0008t0001g0021 others(11): Show |
14 | 190 | 0.0737 | 17 | c.758 others(32): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004827 | G | GAGGGGGG others(10): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18948.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0020 | a0001c0002t0002g0070 a0001c0002t0020g0194 |
2 | 354 | 0.0056 | 17 | c.-14 others(36): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004920 | T | TAGGGAAG others(10): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18980.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0070 a0001c0002t0003g0184 |
2 | 381 | 0.0052 | 17 | c.-14 others(36): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANX_chr5_179693967_179736641 | 179710707 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02300.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0134 a0001c0001t0003g0067 a0001c0001t0004g0129 others(4): Show |
7 | 112 | 0.0625 | 17 | c.721 others(32): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40049178 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 59 | 0.0169 | 17 | c.-11 others(34): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17406398 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG01978.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0021 others(12): Show |
15 | 162 | 0.0926 | 17 | c.-2+ others(34): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17461992 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01517.hp1 HG02027.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0174 a0001c0001t0002g0050 a0001c0001t0002g0162 others(5): Show |
8 | 48 | 0.1667 | 17 | c.223 others(32): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17529651 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 157 | 0.0064 | 17 | c.637 others(34): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735858 | G | GGGGCGGG others(10): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0029 | 1 | 327 | 0.0031 | 17 | c.158 others(34): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30758789 | T | TCCTTTCC others(10): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18954.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005 | a0001c0002t0003g0031 a0001c0002t0003g0033 a0001c0002t0005g0017 others(1): Show |
4 | 127 | 0.0315 | 17 | c.775 others(32): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30800116 | A | AAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0355 | 1 | 88 | 0.0114 | 17 | c.-33 others(34): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 544707 | C | CCTCCCCC others(10): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0379 | 1 | 404 | 0.0025 | 17 | c.-22 others(34): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544721 | C | CCTCCCCC others(10): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01515.hp1 HG01928.hp2 others(37): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0192 a0001c0001t0001g0239 a0001c0001t0002g0232 others(37): Show |
40 | 330 | 0.1212 | 17 | c.-22 others(34): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544825 | C | CCTCCCCC others(10): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01928.hp2 HG02155.hp1 others(17): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0192 a0001c0001t0001g0239 a0001c0001t0002g0314 others(17): Show |
20 | 259 | 0.0772 | 17 | c.-22 others(34): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544892 | C | CACGTCGT others(10): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02970.hp2 others(1): Show |
a0003a0005a0006 | a0003c0037a0005c0036a0006c0026 | a0003c0037t0001a0005c0036t0001a0006c0026t0001others(1): Show | a0003c0037t0001g0381 a0005c0036t0001g0391 a0006c0026t0001g0280 others(1): Show |
4 | 385 | 0.0104 | 17 | c.-22 others(34): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | chr16 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 550786 | G | GGTGAGGG others(10): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02257.hp2 HG02559.hp1 others(8): Show |
a0001a0004a0012 | a0001c0004a0001c0006a0004c0019others(3): Show | a0001c0004t0001a0001c0006t0002a0001c0006t0003others(5): Show | a0001c0004t0001g0268 a0001c0006t0002g0120 a0001c0006t0003g0007 others(7): Show |
11 | 408 | 0.0270 | 17 | c.206 others(34): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 551039 | G | GCCCCGGT others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03209.hp2 |
a0003a0005 | a0003c0035a0005c0034 | a0003c0035t0004a0005c0034t0001 | a0003c0035t0004g0399 a0005c0034t0001g0398 |
2 | 408 | 0.0049 | 17 | c.206 others(34): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 551088 | G | GCCCCGGT others(10): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0321 | 1 | 398 | 0.0025 | 17 | c.206 others(34): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 551186 | G | GCCCCGGT others(10): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0016 | a0002c0016t0002 | a0002c0016t0002g0223 | 1 | 399 | 0.0025 | 17 | c.206 others(33): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223737721 | G | GGGGGGGG others(10): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0315 | 1 | 9 | 0.1111 | 17 | c.308 others(34): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CAPN2_chr1_223707539_223781018 | 223741435 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0321 | 1 | 363 | 0.0028 | 17 | c.308 others(34): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CAPN3_chr15_42354501_42417317 | 42380751 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0053 | 1 | 100 | 0.0100 | 17 | c.310 others(34): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42380751 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0002 | 2 | 101 | 0.0198 | 17 | c.310 others(34): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42380751 | A | ATATATTT others(10): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0054 | 1 | 100 | 0.0100 | 17 | c.310 others(34): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42380752 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 286 | 0.0035 | 17 | c.310 others(34): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | chr15 | TogoVar | |||||||
CAPN7_chr3_15201246_15257916 | 15206112 | C | CGGCCCGG others(10): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 374 | 0.0053 | 17 | c.-38 others(26): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 133 | chr3 | TogoVar | |||||||
CAPN7_chr3_15201246_15257916 | 15210596 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0054 | 1 | 164 | 0.0061 | 17 | c.103 others(34): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 204 | 0.0049 | 17 | c.137 others(34): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0263 | 1 | 204 | 0.0049 | 17 | c.137 others(34): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03540.hp2 NA18941.hp2 NA18966.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024a0001c0001t0035 | a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0193 others(3): Show |
6 | 9 | 0.6667 | 17 | c.40- others(32): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19352475 | A | ATATTCCC others(10): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 362 | 0.0028 | 17 | c.588 others(34): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 6/8 | chr1 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2913145 | A | AAGGAAAG others(10): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0105 | 1 | 320 | 0.0031 | 17 | c.301 others(34): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 22/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2913162 | G | GAGGAAAG others(10): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 320 | 0.0031 | 17 | c.301 others(34): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 22/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2922128 | A | AGGCTTCT others(10): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0053 | 1 | 320 | 0.0031 | 17 | c.226 others(34): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2933706 | T | TCCCTCCT others(10): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01069.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0047 | a0001c0001t0001a0001c0007t0001a0002c0047t0001 | a0001c0001t0001g0157 a0001c0007t0001g0140 a0001c0007t0001g0176 others(3): Show |
6 | 314 | 0.0191 | 17 | c.151 others(34): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2941539 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02280.hp2 others(8): Show |
a0001a0003 | a0001c0008a0001c0013a0001c0017others(5): Show | a0001c0008t0001a0001c0013t0001a0001c0017t0001others(5): Show | a0001c0008t0001g0031 a0001c0008t0001g0068 a0001c0013t0001g0101 others(8): Show |
11 | 140 | 0.0786 | 17 | c.685 others(34): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 5/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 3040328 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107 | 1 | 202 | 0.0050 | 17 | c.-12 others(36): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD14_chr17_80165030_80214331 | 80172872 | C | CTTTTTTT others(10): Show |
splice_region_variant others(1): Show |
LOW | HG03540.hp2 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0263 | 1 | 135 | 0.0074 | 17 | c.-68 others(31): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8851977 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0033others(3): Show | a0001c0001t0001g0392 a0001c0001t0002g0287 a0001c0001t0033g0398 others(16): Show |
21 | 96 | 0.2188 | 17 | c.*31 others(28): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8857263 | G | GTTTTTTG others(10): Show |
intron_variant | MODIFIER | HG00558.hp1 NA19000.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0032 | a0001c0002t0002g0298 a0001c0002t0032g0231 |
2 | 113 | 0.0177 | 17 | c.281 others(34): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8857263 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02004.hp2 NA18971.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 a0001c0001t0003g0210 |
3 | 114 | 0.0263 | 17 | c.281 others(34): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 100 | 0.0100 | 17 | c.-7- others(32): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CARM1_chr19_10866553_10928075 | 10867257 | T | TTGATGTC others(10): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(75): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0075 a0001c0001t0001g0243 a0001c0001t0002g0001 others(72): Show |
78 | 352 | 0.2216 | 17 | c.-44 others(28): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 4295 | chr19 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25300509 | T | TACAAAAA others(10): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01106.hp1 |
a0002a0005 | a0002c0007a0005c0019 | a0002c0007t0006a0005c0019t0001 | a0002c0007t0006g0036 a0002c0007t0006g0037 a0005c0019t0001g0038 |
3 | 184 | 0.0163 | 17 | c.138 others(36): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25387114 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03669.hp1 |
a0001a0004 | a0001c0004a0004c0011 | a0001c0004t0004a0004c0011t0006 | a0001c0004t0004g0066 a0004c0011t0006g0070 |
2 | 44 | 0.0455 | 17 | c.139 others(36): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25459269 | T | TCTTTCTT others(10): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03540.hp1 |
a0001a0002 | a0001c0004a0002c0013 | a0001c0004t0004a0002c0013t0013 | a0001c0004t0004g0034 a0002c0013t0013g0186 |
2 | 172 | 0.0116 | 17 | c.615 others(34): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25529755 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0066 | 1 | 99 | 0.0101 | 17 | c.206 others(34): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |