view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RYR1_chr19_38428691_38592564 | 38590394 | AATATATA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp2 HG03139.hp2 HG03471.hp1 others(1): Show |
a0007a0016a0018others(1): Show | a0007c0039a0016c0106a0018c0083others(1): Show | a0007c0039t0001a0016c0106t0001a0018c0083t0002others(1): Show | a0007c0039t0001g0031a0016c0106t0001g0099a0018c0083t0002g0211others(1): Show | 4 | 218 | 0.0184 | -10 | c.*29 others(21): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2831 | chr19 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38590965 | TCACACAC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02083.hp2 HG02155.hp1 HG02970.hp1 |
a0001a0003 | a0001c0069a0001c0114a0003c0006 | a0001c0069t0001a0001c0114t0001a0003c0006t0001 | a0001c0069t0001g0139a0001c0114t0001g0072a0003c0006t0001g0193 | 3 | 218 | 0.0138 | -10 | c.*35 others(21): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3402 | chr19 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237064751 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp1 NA18747.hp2 |
a0001a0002 | a0001c0002a0002c0012 | a0001c0002t0001a0002c0012t0023 | a0001c0002t0001g0075a0002c0012t0023g0074 | 2 | 100 | 0.0200 | -10 | c.48+ others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237065287 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0084 | 1 | 100 | 0.0100 | -10 | c.48+ others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237117671 | CCTTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01074.hp1 HG01169.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0003a0001c0003t0001a0001c0003t0002others(8): Show | a0001c0001t0003g0089a0001c0003t0001g0078a0001c0003t0002g0087others(9): Show | 12 | 100 | 0.1200 | -10 | c.48+ others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237157316 | AAAAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0029 | a0001c0029t0008 | a0001c0029t0008g0090 | 1 | 100 | 0.0100 | -10 | c.49- others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237178416 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01168.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0002t0002a0001c0003t0001others(6): Show | a0001c0001t0003g0100a0001c0002t0002g0076a0001c0003t0001g0063others(6): Show | 9 | 100 | 0.0900 | -10 | c.49- others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237180682 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00741.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(27): Show | a0001c0001t0001g0012a0001c0001t0003g0100a0001c0001t0015g0069others(28): Show | 31 | 100 | 0.3100 | -10 | c.49- others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237208936 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01928.hp2 HG02280.hp2 |
a0001 | a0001c0001a0001c0010a0001c0022 | a0001c0001t0003a0001c0010t0004a0001c0022t0014 | a0001c0001t0003g0100a0001c0010t0004g0097a0001c0022t0014g0066 | 3 | 100 | 0.0300 | -10 | c.49- others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237395533 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp2 NA20300.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0035 | a0001c0001t0006a0001c0001t0041a0001c0011t0004others(1): Show | a0001c0001t0006g0025a0001c0001t0041g0001a0001c0011t0004g0064others(1): Show | 4 | 100 | 0.0400 | -10 | c.773 others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 10/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237476509 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG03516.hp2 |
a0001 | a0001c0042a0001c0048 | a0001c0042t0017a0001c0048t0001 | a0001c0042t0017g0050a0001c0048t0001g0007 | 2 | 100 | 0.0200 | -10 | c.170 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 17/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237511834 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG03195.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008a0001c0018others(2): Show | a0001c0001t0038a0001c0008t0028a0001c0018t0032others(2): Show | a0001c0001t0038g0026a0001c0008t0028g0039a0001c0018t0032g0041others(2): Show | 5 | 100 | 0.0500 | -10 | c.282 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 24/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237556880 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01099.hp1 HG01175.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0041others(16): Show | a0001c0001t0001g0012a0001c0001t0004g0036a0001c0001t0041g0001others(16): Show | 19 | 100 | 0.1900 | -10 | c.321 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237565131 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0027 | a0001c0027t0002 | a0001c0027t0002g0085 | 1 | 100 | 0.0100 | -10 | c.321 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237565147 | TTCTTTCT others(3): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG02055.hp2 HG02293.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0015a0001c0002t0002a0001c0004t0020others(1): Show | a0001c0001t0015g0069a0001c0002t0002g0076a0001c0004t0020g0093others(1): Show | 4 | 100 | 0.0400 | -10 | c.321 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237594886 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0049 | a0001c0049t0009 | a0001c0049t0009g0044 | 1 | 100 | 0.0100 | -10 | c.443 others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 33/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237626580 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0019 | a0001c0019t0022 | a0001c0019t0022g0035 | 1 | 100 | 0.0100 | -10 | c.616 others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 40/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237631613 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 |
a0001a0003 | a0001c0005a0003c0006 | a0001c0005t0006a0003c0006t0002 | a0001c0005t0006g0029a0003c0006t0002g0094 | 2 | 100 | 0.0200 | -10 | c.655 others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 42/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237698105 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG03831.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0063a0001c0003t0004g0016 | 2 | 100 | 0.0200 | -10 | c.906 others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 63/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237724184 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01175.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(16): Show | a0001c0001t0001g0099a0001c0001t0004g0036a0001c0002t0001g0070others(16): Show | 19 | 100 | 0.1900 | -10 | c.106 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 74/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237759091 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0087 | 1 | 100 | 0.0100 | -10 | c.113 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 82/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237795836 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0030 | a0001c0030t0005 | a0001c0030t0005g0053 | 1 | 100 | 0.0100 | -10 | c.139 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 96/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237808669 | CAAAATAA others(3): Show |
C | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0032 | a0001c0032t0005 | a0001c0032t0005g0098 | 1 | 100 | 0.0100 | -10 | c.142 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 99/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237827936 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0004 | a0001c0004t0030 | a0001c0004t0030g0005 | 1 | 100 | 0.0100 | -10 | c.145 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 101/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33310453 | TCACACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG03486.hp2 others(3): Show |
a0003a0006a0007others(2): Show | a0003c0035a0006c0062a0006c0097others(3): Show | a0003c0035t0004a0006c0062t0001a0006c0097t0001others(3): Show | a0003c0035t0004g0111a0006c0062t0001g0107a0006c0097t0001g0081others(3): Show | 6 | 154 | 0.0390 | -10 | c.-59 others(19): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 513 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33336440 | AAGAGAGA others(3): Show |
A | intron_variant | MODIFIER | NA19005.hp2 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0100 | 1 | 154 | 0.0065 | -10 | c.51+ others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33336478 | GAGAGAGA others(3): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG03098.hp1 |
a0001a0002 | a0001c0037a0002c0119 | a0001c0037t0003a0002c0119t0001 | a0001c0037t0003g0089a0002c0119t0001g0090 | 2 | 154 | 0.0130 | -10 | c.51+ others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33337934 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0065 | a0003c0065t0002 | a0003c0065t0002g0150 | 1 | 154 | 0.0065 | -10 | c.51+ others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33425637 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0065 | a0003c0065t0002 | a0003c0065t0002g0150 | 1 | 154 | 0.0065 | -10 | c.52- others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33437117 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02145.hp2 others(14): Show |
a0001a0002a0003others(10): Show | a0001c0047a0001c0058a0001c0120others(14): Show | a0001c0047t0001a0001c0058t0002a0001c0120t0002others(14): Show | a0001c0047t0001g0135a0001c0058t0002g0073a0001c0120t0002g0121others(14): Show | 17 | 154 | 0.1104 | -10 | c.52- others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33445664 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | NA18522.hp1 NA18981.hp2 |
a0001a0003 | a0001c0002a0003c0012 | a0001c0002t0002a0003c0012t0003 | a0001c0002t0002g0102a0003c0012t0003g0113 | 2 | 154 | 0.0130 | -10 | c.52- others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33460940 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02965.hp1 |
a0001a0010 | a0001c0099a0010c0055 | a0001c0099t0002a0010c0055t0005 | a0001c0099t0002g0139a0010c0055t0005g0061 | 2 | 154 | 0.0130 | -10 | c.52- others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33464463 | GATATATA others(3): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01496.hp1 HG02976.hp2 others(1): Show |
a0001a0002a0014others(1): Show | a0001c0015a0002c0089a0014c0103others(1): Show | a0001c0015t0001a0002c0089t0008a0014c0103t0002others(1): Show | a0001c0015t0001g0077a0002c0089t0008g0130a0014c0103t0002g0129others(1): Show | 4 | 154 | 0.0260 | -10 | c.52- others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33464493 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01255.hp2 homoSapiens_chm13v2.hp1 |
a0001a0007a0018 | a0001c0015a0007c0073a0018c0031 | a0001c0015t0001a0007c0073t0001a0018c0031t0003 | a0001c0015t0001g0077a0007c0073t0001g0138a0018c0031t0003g0092 | 3 | 154 | 0.0195 | -10 | c.52- others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33671805 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0080 | a0002c0080t0002 | a0002c0080t0002g0060 | 1 | 154 | 0.0065 | -10 | c.586 others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 38/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33705101 | TTCTCTCT others(3): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0047 | a0001c0047t0001 | a0001c0047t0001g0135 | 1 | 154 | 0.0065 | -10 | c.648 others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 42/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33725154 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01070.hp1 others(20): Show |
a0001a0003a0006others(12): Show | a0001c0058a0003c0035a0003c0043others(19): Show | a0001c0058t0002a0003c0035t0004a0003c0043t0001others(19): Show | a0001c0058t0002g0073a0003c0035t0004g0111a0003c0043t0001g0106others(20): Show | 23 | 154 | 0.1494 | -10 | c.691 others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 45/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33789652 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0142 | 1 | 154 | 0.0065 | -10 | c.983 others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33789658 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0146 | 1 | 154 | 0.0065 | -10 | c.983 others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33794213 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01243.hp2 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0046a0001c0098a0002c0119others(9): Show | a0001c0046t0011a0001c0098t0001a0002c0119t0001others(9): Show | a0001c0046t0011g0065a0001c0098t0001g0151a0002c0119t0001g0090others(10): Show | 13 | 154 | 0.0844 | -10 | c.983 others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33834285 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG03209.hp1 NA19030.hp2 |
a0009a0017 | a0009c0063a0017c0041 | a0009c0063t0001a0017c0041t0002 | a0009c0063t0001g0126a0017c0041t0002g0114 | 2 | 154 | 0.0130 | -10 | c.114 others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 86/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33848826 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02071.hp2 NA19056.hp1 NA19062.hp1 |
a0001a0008 | a0001c0003a0001c0005a0008c0019 | a0001c0003t0001a0001c0005t0001a0008c0019t0001 | a0001c0003t0001g0032a0001c0005t0001g0027a0008c0019t0001g0001 | 3 | 154 | 0.0195 | -10 | c.136 others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 94/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33868544 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0039 | a0039c0064 | a0039c0064t0003 | a0039c0064t0003g0052 | 1 | 154 | 0.0065 | -10 | c.*33 others(21): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 2443 | chr15 | TogoVar | |||||||
S100A10_chr1_151977915_151998859 | 151987027 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03130.hp2 HG03471.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 3 | 390 | 0.0077 | -10 | c.-21 others(25): Show |
S100A10 | ENSG00000197747.9 | transcript | ENST00000368811.8 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
S100A12_chr1_153368711_153380621 | 153377574 | CAGGCACC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0012 | 2 | 366 | 0.0055 | -10 | c.-20 others(21): Show |
S100A12 | ENSG00000163221.9 | transcript | ENST00000368737.5 | protein_coding | 1954 | chr1 | TogoVar | |||||||
S100A16_chr1_153601886_153618137 | 153608627 | TCCCAGGA others(3): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01167.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0025others(5): Show | 46 | 400 | 0.1150 | -10 | c.-26 others(25): Show |
S100A16 | ENSG00000188643.11 | transcript | ENST00000368706.9 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
S100A7A_chr1_153411520_153428222 | 153426799 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(28): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0025others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0018g0001others(20): Show | 31 | 422 | 0.0735 | -10 | c.*74 others(21): Show |
S100A7A | ENSG00000184330.12 | transcript | ENST00000368729.9 | protein_coding | 3578 | chr1 | TogoVar | |||||||
S100P_chr4_6688878_6702170 | 6692126 | CATATATG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 482 | 0.0021 | -10 | c.-18 others(21): Show |
S100P | ENSG00000163993.7 | transcript | ENST00000296370.4 | protein_coding | 1751 | chr4 | TogoVar | |||||||
S100Z_chr5_76845014_76926650 | 76864386 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02895.hp1 HG03491.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(2): Show | a0001c0001t0001g0285a0001c0001t0009g0035a0001c0001t0009g0075others(20): Show | 23 | 348 | 0.0661 | -10 | c.-17 others(29): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
S100Z_chr5_76845014_76926650 | 76888367 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098a0001c0001t0003g0226 | 2 | 348 | 0.0058 | -10 | c.*2+ others(27): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |