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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN3_chr15_42354501_42417317 | 42398590 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02258.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0014 | a0001c0001t0001a0002c0014t0001a0002c0014t0006 | a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 others(5): Show |
8 | 306 | 0.0261 | -12 | c.119 others(29): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77079783 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0005 | a0005c0007 | a0005c0007t0011 | a0005c0007t0011g0355 | 1 | 382 | 0.0026 | -12 | c.-35 others(29): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77087496 | TCCTCAGC others(5): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0221 | 1 | 382 | 0.0026 | -12 | c.165 others(29): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 2/12 | chr11 | TogoVar | |||||||
CAPN5_chr11_77061971_77131155 | 77093585 | TCTGTGTC others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0005g0067 others(5): Show |
8 | 382 | 0.0209 | -12 | c.166 others(25): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN7_chr3_15201246_15257916 | 15229561 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0040 |
2 | 376 | 0.0053 | -12 | c.938 others(27): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230751585 | CAAAGAAA others(5): Show |
C | intron_variant | MODIFIER | HG02148.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0101 | 1 | 394 | 0.0025 | -12 | c.214 others(29): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230751605 | GAAAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG02132.hp1 HG03492.hp1 HG03669.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0009a0003c0004 | a0001c0001t0001a0002c0009t0001a0003c0004t0001 | a0001c0001t0001g0118 a0001c0001t0001g0143 a0002c0009t0001g0144 others(1): Show |
4 | 394 | 0.0102 | -12 | c.214 others(29): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230751609 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0103 | 1 | 394 | 0.0025 | -12 | c.214 others(29): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230757011 | TGGAAGGA others(5): Show |
T | intron_variant | MODIFIER | HG03139.hp2 HG04199.hp1 |
a0003a0006 | a0003c0004a0006c0027 | a0003c0004t0001a0006c0027t0001 | a0003c0004t0001g0255 a0006c0027t0001g0036 |
2 | 394 | 0.0051 | -12 | c.283 others(29): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230757056 | GGAAGGAA others(5): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01257.hp1 HG01258.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0005a0002c0006others(2): Show | a0001c0003t0001a0001c0005t0001a0002c0006t0001others(2): Show | a0001c0003t0001g0353 a0001c0003t0001g0362 a0001c0003t0001g0363 others(15): Show |
19 | 394 | 0.0482 | -12 | c.283 others(29): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230765212 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(56): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0004a0005c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(56): Show |
59 | 394 | 0.1498 | -12 | c.537 others(29): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230768010 | TAATAAAT others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02257.hp2 others(18): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(6): Show | a0001c0001t0001g0140 a0001c0002t0001g0150 a0003c0004t0001g0246 others(18): Show |
21 | 394 | 0.0533 | -12 | c.705 others(27): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230768049 | TAAATAAA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01074.hp2 HG01081.hp2 others(16): Show |
a0001a0002a0006others(2): Show | a0001c0003a0002c0013a0006c0010others(2): Show | a0001c0003t0001a0001c0003t0004a0002c0013t0001others(3): Show | a0001c0003t0001g0017 a0001c0003t0001g0172 a0001c0003t0001g0346 others(16): Show |
19 | 394 | 0.0482 | -12 | c.705 others(27): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230769614 | CACCTATC others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02004.hp2 others(10): Show |
a0001a0003a0004others(2): Show | a0001c0005a0003c0004a0004c0007others(2): Show | a0001c0005t0001a0003c0004t0001a0003c0004t0002others(4): Show | a0001c0005t0001g0056 a0001c0005t0001g0260 a0003c0004t0001g0044 others(10): Show |
13 | 394 | 0.0330 | -12 | c.789 others(27): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230769616 | CCTATCTA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG01346.hp2 others(33): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0002c0006others(7): Show | a0001c0001t0001a0001c0002t0001a0002c0006t0001others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0105 a0001c0001t0001g0140 others(33): Show |
36 | 394 | 0.0914 | -12 | c.789 others(27): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230789473 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01168.hp1 others(30): Show |
a0001a0005a0013others(1): Show | a0001c0002a0001c0005a0005c0039others(2): Show | a0001c0002t0001a0001c0005t0001a0005c0039t0001others(2): Show | a0001c0002t0001g0108 a0001c0005t0001g0002 a0001c0005t0001g0037 others(29): Show |
33 | 394 | 0.0838 | -12 | c.160 others(29): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230796329 | TATAAATA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00609.hp2 others(21): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0003a0002c0006others(3): Show | a0001c0002t0001a0001c0003t0001a0002c0006t0001others(3): Show | a0001c0002t0001g0175 a0001c0002t0001g0182 a0001c0002t0001g0184 others(21): Show |
24 | 394 | 0.0609 | -12 | c.198 others(31): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230800231 | GAAGAAAG others(5): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG01081.hp1 HG02071.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0199 a0001c0002t0001g0202 a0001c0002t0001g0226 others(8): Show |
11 | 394 | 0.0279 | -12 | c.204 others(31): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230800298 | GAAAGAAA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01168.hp1 HG01243.hp1 others(27): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(9): Show | a0001c0001t0001g0181 a0001c0002t0001g0230 a0001c0002t0001g0311 others(27): Show |
30 | 394 | 0.0761 | -12 | c.204 others(31): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPNS1_chr19_36135066_36155353 | 36141122 | GGGCGGCG others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG02135.hp2 HG02886.hp1 HG02886.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0075 a0003c0004t0001g0087 a0003c0004t0001g0119 |
3 | 480 | 0.0063 | -12 | c.132 others(19): Show |
p.Gly others(11): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 2/11 | 239/1428 | 132/807 | 44/268 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CAPRIN1_chr11_34046731_34107610 | 34079905 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0045 | 1 | 246 | 0.0041 | -12 | c.826 others(27): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34089283 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG02109.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 others(11): Show |
14 | 246 | 0.0569 | -12 | c.123 others(28): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34103735 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01884.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0217 others(4): Show |
7 | 246 | 0.0285 | -12 | c.*43 others(23): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1126 | chr11 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30734762 | TCTGTCAA others(5): Show |
T | intron_variant | MODIFIER | NA19006.hp2 | a0011 | a0011c0020 | a0011c0020t0001 | a0011c0020t0001g0115 | 1 | 378 | 0.0027 | -12 | c.566 others(27): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 5/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30734849 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01361.hp1 HG01891.hp1 others(20): Show |
a0002a0004 | a0002c0002a0004c0007 | a0002c0002t0002a0002c0002t0004a0004c0007t0001 | a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 others(16): Show |
23 | 378 | 0.0609 | -12 | c.566 others(27): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 5/18 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75272364 | AACACACA others(5): Show |
A | downstream_gene_variant | MODIFIER | NA18960.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0251 a0001c0001t0005g0252 |
2 | 370 | 0.0054 | -12 | c.*65 others(23): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 3614 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75291480 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01496.hp2 others(16): Show |
a0001a0008 | a0001c0001a0008c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0082 a0001c0001t0001g0322 a0001c0001t0002g0241 others(15): Show |
19 | 370 | 0.0514 | -12 | c.112 others(29): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75291567 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01993.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0267 a0001c0001t0003g0160 |
2 | 370 | 0.0054 | -12 | c.112 others(29): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75300555 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01168.hp2 HG01361.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0008a0001c0001t0011others(1): Show | a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 others(12): Show |
17 | 370 | 0.0460 | -12 | c.666 others(27): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 8/16 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75311699 | GGAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(81): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0010a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(64): Show |
84 | 370 | 0.2270 | -12 | c.545 others(29): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 7/16 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75311700 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0208 | 1 | 370 | 0.0027 | -12 | c.545 others(29): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 7/16 | chr12 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35925644 | CAGGAGAC others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02572.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006 | a0002c0002t0003g0053 a0002c0002t0003g0273 a0002c0002t0003g0274 others(6): Show |
10 | 402 | 0.0249 | -12 | c.1-4 others(25): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35939393 | TCTGACAC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01975.hp1 HG01981.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0084 others(3): Show |
7 | 402 | 0.0174 | -12 | c.-86 others(21): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 772 | chr5 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35939396 | GACACACA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00673.hp1 HG00733.hp2 HG00738.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0156 a0001c0001t0001g0170 others(15): Show |
24 | 402 | 0.0597 | -12 | c.-86 others(21): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 775 | chr5 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35939434 | CACACACA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | 1 | 402 | 0.0025 | -12 | c.-90 others(21): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 813 | chr5 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35940827 | CATCTATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02965.hp1 HG03516.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0081 a0002c0002t0001g0028 a0002c0002t0001g0054 |
4 | 402 | 0.0100 | -12 | c.-22 others(23): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2206 | chr5 | TogoVar | |||||||
CAPS_chr19_5909254_5921211 | 5910675 | AAACAACA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02922.hp1 HG03516.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001a0005c0006t0015 | a0001c0001t0001g0001 a0005c0006t0001g0001 a0005c0006t0015g0001 |
3 | 396 | 0.0076 | -12 | c.-36 others(23): Show |
CAPS | ENSG00000105519.18 | transcript | ENST00000588776.8 | protein_coding | 3578 | chr19 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112617713 | TCTCTCAC others(5): Show |
T | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0257 | 1 | 368 | 0.0027 | -12 | c.-21 others(23): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 2118 | chr1 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112617717 | TCACACAC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0310 | 1 | 368 | 0.0027 | -12 | c.-21 others(23): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 2114 | chr1 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112633734 | TATCCTGG others(5): Show |
T | intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0253 | 1 | 368 | 0.0027 | -12 | c.40- others(29): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112638897 | CATAGATA others(5): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0279 | 1 | 368 | 0.0027 | -12 | c.40- others(27): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116859874 | TTTTCTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(93): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(17): Show | a0001c0001t0001g0218 a0001c0001t0001g0267 a0001c0001t0001g0269 others(92): Show |
96 | 354 | 0.2712 | -12 | c.-27 others(23): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2712 | chr7 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116890559 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 354 | 0.0028 | -12 | c.103 others(29): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116914432 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0281 | 1 | 354 | 0.0028 | -12 | c.658 others(29): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA3_chr12_18733119_18744188 | 18739510 | TGTGAGAG others(5): Show |
T | downstream_gene_variant | MODIFIER | NA19090.hp1 | a0005 | a0005c0003 | a0005c0003t0002 | a0005c0003t0002g0000 | 1 | 392 | 0.0026 | -12 | c.*34 others(21): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 323 | chr12 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19366299 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 364 | 0.0028 | -12 | c.330 others(29): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19413603 | GGATTATA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(117): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 others(117): Show |
120 | 364 | 0.3297 | -12 | c.93+ others(27): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19416860 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 364 | 0.0028 | -12 | c.93+ others(27): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19421614 | TTGGCCCA others(5): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0254 | 1 | 364 | 0.0028 | -12 | c.4-1 others(25): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19422729 | AAACAACA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(85): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 others(85): Show |
88 | 364 | 0.2418 | -12 | c.4-2 others(25): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar |