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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RTN4RL1_chr17_1929677_2030334 | 1961773 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01358.hp2 HG01928.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0137 others(23): Show |
26 | 105 | 0.2476 | 9 | c.14- others(26): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 2007333 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03041.hp2 HG03491.hp2 |
a0001a0005 | a0001c0001a0001c0002a0005c0012 | a0001c0001t0055a0001c0002t0057a0005c0012t0076 | a0001c0001t0055g0379 a0001c0002t0057g0141 a0005c0012t0076g0060 |
3 | 373 | 0.0080 | 9 | c.13+ others(26): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241866115 | A | AGTGTGTG others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(85): Show |
a0002a0023 | a0002c0002a0023c0026 | a0002c0002t0001a0002c0002t0010a0002c0002t0014others(8): Show | a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 others(14): Show |
88 | 363 | 0.2424 | 9 | c.-36 others(20): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 3613 | chr2 | TogoVar | |||||||
RTRAF_chr14_51984546_52015694 | 51987999 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00673.hp2 others(71): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0038 others(19): Show |
74 | 217 | 0.3410 | 9 | c.-16 others(20): Show |
RTRAF | ENSG00000087302.9 | transcript | ENST00000261700.8 | protein_coding | 1546 | chr14 | TogoVar | |||||||
RTTN_chr18_69998031_70210687 | 70184703 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01169.hp2 others(5): Show |
a0001a0002 | a0001c0009a0002c0003 | a0001c0009t0001a0002c0003t0001 | a0001c0009t0001g0039 a0002c0003t0001g0047 a0002c0003t0001g0048 others(5): Show |
8 | 110 | 0.0727 | 9 | c.130 others(28): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 10/48 | chr18 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179561700 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02615.hp2 HG02922.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0004g0198 others(6): Show |
9 | 276 | 0.0326 | 9 | c.485 others(24): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179579657 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG01256.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0266 a0001c0001t0002g0286 a0001c0002t0002g0086 others(10): Show |
13 | 60 | 0.2167 | 9 | c.891 others(26): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179580246 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(1): Show | a0001c0001t0002g0098 a0001c0002t0002g0335 a0001c0003t0002g0225 others(1): Show |
4 | 309 | 0.0129 | 9 | c.891 others(24): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | chr5 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179600684 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02630.hp1 HG02895.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0028 a0001c0001t0004g0031 a0001c0001t0004g0032 others(7): Show |
10 | 42 | 0.2381 | 9 | c.176 others(28): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUNDC1_chr17_42975565_43000142 | 42981992 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01099.hp1 others(12): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0045 others(10): Show |
15 | 29 | 0.5172 | 9 | c.498 others(24): Show |
RUNDC1 | ENSG00000198863.8 | transcript | ENST00000361677.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RUNDC3A_chr17_44303601_44323670 | 44306893 | A | AAACAACA others(2): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG02145.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0073 |
3 | 107 | 0.0280 | 9 | c.-19 others(20): Show |
RUNDC3A | ENSG00000108309.14 | transcript | ENST00000426726.8 | protein_coding | 1707 | chr17 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626361 | T | TATATGTG others(2): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0119 a0001c0001t0026g0120 |
2 | 195 | 0.0103 | 9 | c.-24 others(20): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2036 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626400 | T | TATATGTG others(2): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 a0001c0001t0003g0075 |
2 | 199 | 0.0101 | 9 | c.-24 others(20): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1997 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626481 | G | GTGTCATA others(2): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0025 | a0001c0001t0024g0004 a0001c0001t0025g0005 |
2 | 176 | 0.0114 | 9 | c.-23 others(20): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1916 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87702142 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | NA18952.hp1 NA18988.hp2 NA18990.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015a0001c0001t0048 | a0001c0001t0014g0152 a0001c0001t0014g0155 a0001c0001t0014g0158 others(2): Show |
5 | 48 | 0.1042 | 9 | c.372 others(26): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNX1_chr21_34782801_35054302 | 34823430 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01496.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0072 a0001c0001t0001g0124 a0001c0001t0001g0165 others(8): Show |
11 | 12 | 0.9167 | 9 | c.805 others(28): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 35022895 | G | GAATAATA others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02622.hp1 HG02723.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0050 a0001c0001t0001g0078 a0001c0001t0001g0118 others(8): Show |
11 | 77 | 0.1429 | 9 | c.58+ others(26): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX2_chr6_45323330_45556082 | 45458022 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0017 | a0001c0001t0001g0069 a0001c0001t0002g0064 a0001c0001t0002g0068 others(3): Show |
6 | 98 | 0.0612 | 9 | c.685 others(28): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35513190 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0210 |
3 | 92 | 0.0326 | 9 | c.-93 others(28): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35515999 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG02896.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0119 a0001c0001t0002g0047 a0001c0001t0002g0050 others(5): Show |
8 | 130 | 0.0615 | 9 | c.-93 others(28): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RUVBL2_chr19_48988887_49020970 | 48992870 | A | ACACAGGA others(2): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0003a0001c0016 | a0001c0003t0002a0001c0016t0002 | a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 others(1): Show |
4 | 410 | 0.0098 | 9 | c.-10 others(20): Show |
RUVBL2 | ENSG00000183207.15 | transcript | ENST00000595090.6 | protein_coding | 1016 | chr19 | TogoVar | |||||||
RWDD2A_chr6_83188357_83203935 | 83193331 | T | TCCGCCAG others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(101): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(5): Show |
104 | 430 | 0.2419 | 9 | c.-25 others(18): Show |
RWDD2A | ENSG00000013392.8 | transcript | ENST00000369724.5 | protein_coding | 25 | chr6 | TogoVar | |||||||
RWDD4_chr4_183634635_183664185 | 183643415 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01106.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0010a0002c0002t0001others(2): Show | a0001c0001t0001g0162 a0001c0005t0010g0010 a0002c0002t0001g0036 others(18): Show |
23 | 27 | 0.8519 | 9 | c.535 others(26): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 7/7 | chr4 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158562523 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00738.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0013 others(11): Show |
15 | 30 | 0.5000 | 9 | c.50- others(26): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31783983 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00621.hp2 others(41): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(41): Show |
44 | 71 | 0.6197 | 9 | c.929 others(26): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXRB_chr6_33188588_33205665 | 33190072 | T | TTCAAGCA others(2): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 a0001c0001t0006g0022 a0001c0001t0006g0033 |
13 | 390 | 0.0333 | 9 | c.*46 others(20): Show |
RXRB | ENSG00000204231.11 | transcript | ENST00000374680.4 | protein_coding | 3515 | chr6 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134216792 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02074.hp2 HG03688.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0126 a0001c0001t0001g0161 a0001c0001t0001g0184 others(3): Show |
6 | 98 | 0.0612 | 9 | c.355 others(26): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 2/14 | chr3 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38456089 | G | GCTTGAAC others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02809.hp2 |
a0001a0017 | a0001c0003a0017c0043 | a0001c0003t0002a0017c0043t0002 | a0001c0003t0002g0213 a0001c0003t0002g0214 a0017c0043t0002g0215 |
3 | 216 | 0.0139 | 9 | c.179 others(26): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38590388 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 HG04184.hp2 |
a0001a0002 | a0001c0001a0002c0078 | a0001c0001t0001a0002c0078t0001 | a0001c0001t0001g0097 a0002c0078t0001g0050 |
2 | 165 | 0.0121 | 9 | c.*29 others(20): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2825 | chr19 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237039710 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01261.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005a0001c0014others(5): Show | a0001c0001t0006a0001c0001t0035a0001c0005t0006others(7): Show | a0001c0001t0006g0025 a0001c0001t0035g0026 a0001c0005t0006g0029 others(7): Show |
10 | 93 | 0.1075 | 9 | c.-28 others(20): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 2473 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237262245 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18946.hp1 NA18946.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0006a0001c0004t0002a0001c0008t0025others(1): Show | a0001c0001t0006g0025 a0001c0004t0002g0092 a0001c0008t0025g0039 others(1): Show |
4 | 9 | 0.4444 | 9 | c.49- others(24): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237724761 | A | ACGAGAGG others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(91): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(42): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(77): Show | a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0003g0023 others(91): Show |
94 | 100 | 0.9400 | 9 | c.106 others(30): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 74/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33336546 | G | GAAGGAAA others(2): Show |
intron_variant | MODIFIER | HG04184.hp1 NA18522.hp1 NA18981.hp1 others(1): Show |
a0001a0003a0049 | a0001c0004a0001c0013a0003c0012others(1): Show | a0001c0004t0003a0001c0013t0001a0003c0012t0003others(1): Show | a0001c0004t0003g0104 a0001c0013t0001g0026 a0003c0012t0003g0113 others(1): Show |
4 | 93 | 0.0430 | 9 | c.51+ others(26): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33569855 | C | CATTTTAT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00735.hp1 others(52): Show |
a0001a0002a0003others(15): Show | a0001c0003a0001c0004a0001c0013others(40): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(46): Show | a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0002g0037 others(52): Show |
55 | 152 | 0.3618 | 9 | c.126 others(28): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 12/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33763892 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG01243.hp1 others(8): Show |
a0001a0004a0017others(1): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0004t0001others(7): Show | a0001c0001t0001g0140 a0001c0001t0010g0094 a0001c0004t0001g0036 others(8): Show |
11 | 59 | 0.1864 | 9 | c.870 others(28): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 60/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33763892 | C | CAAAAACA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG03195.hp2 others(4): Show |
a0001a0002a0005others(3): Show | a0001c0083a0002c0093a0005c0022others(4): Show | a0001c0083t0001a0002c0093t0004a0005c0022t0002others(4): Show | a0001c0083t0001g0143 a0002c0093t0004g0050 a0005c0022t0002g0147 others(4): Show |
7 | 55 | 0.1273 | 9 | c.870 others(28): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 60/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
S100A10_chr1_151977915_151998859 | 151993772 | C | CGCTGGGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00733.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 5 | 388 | 0.0129 | 9 | c.-51 others(16): Show |
S100A10 | ENSG00000197747.9 | transcript | ENST00000368811.8 | protein_coding | 1/3 | 7543 | chr1 | TogoVar | ||||||
S100A2_chr1_153556108_153570844 | 153564854 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG01891.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002a0002c0002t0005others(1): Show | a0001c0001t0004g0028 a0001c0001t0004g0045 a0001c0001t0004g0046 others(10): Show |
38 | 41 | 0.9268 | 9 | c.-11 others(24): Show |
S100A2 | ENSG00000196754.13 | transcript | ENST00000368708.9 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
S100B_chr21_46593604_46610082 | 46603392 | A | AGGGGGCG others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 10 | 50 | 0.2000 | 9 | c.-1- others(22): Show |
S100B | ENSG00000160307.10 | transcript | ENST00000291700.9 | protein_coding | 1/2 | chr21 | TogoVar | |||||||
S100P_chr4_6688878_6702170 | 6701096 | T | TTTATTAT others(2): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 NA18956.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0036 |
3 | 109 | 0.0275 | 9 | c.*40 others(20): Show |
S100P | ENSG00000163993.7 | transcript | ENST00000296370.4 | protein_coding | 3927 | chr4 | TogoVar | |||||||
S1PR1_chr1_101232019_101246518 | 101232706 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00741.hp2 HG01081.hp2 others(41): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(11): Show |
44 | 100 | 0.4400 | 9 | c.-45 others(20): Show |
S1PR1 | ENSG00000170989.10 | transcript | ENST00000305352.7 | protein_coding | 4312 | chr1 | TogoVar | |||||||
S1PR2_chr19_10216433_10236331 | 10218876 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG01952.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0007a0001c0002t0012others(9): Show | a0001c0001t0001g0001 a0001c0002t0007g0014 a0001c0002t0007g0069 others(13): Show |
23 | 205 | 0.1122 | 9 | c.*49 others(20): Show |
S1PR2 | ENSG00000267534.4 | transcript | ENST00000646641.1 | protein_coding | 2556 | chr19 | TogoVar | |||||||
SAE1_chr19_47125835_47215636 | 47201360 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0052 others(7): Show |
10 | 42 | 0.2381 | 9 | c.879 others(26): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAGSIN1_chr7_6324411_6353967 | 6347883 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01099.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0384 a0001c0001t0002g0005 a0001c0001t0002g0235 others(20): Show |
24 | 60 | 0.4000 | 9 | c.186 others(24): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 1/1 | chr7 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6351230 | T | TTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 NA19060.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0004g0210 |
3 | 254 | 0.0118 | 9 | c.-24 others(20): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 2264 | chr7 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6351232 | A | AATTATTA others(2): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01071.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0063 others(10): Show |
16 | 192 | 0.0833 | 9 | c.-24 others(20): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 2266 | chr7 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6352698 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG03831.hp1 NA18950.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0002g0220 others(4): Show |
7 | 97 | 0.0722 | 9 | c.-39 others(20): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 3732 | chr7 | TogoVar | |||||||
SALL2_chr14_21516080_21531346 | 21527421 | A | AGTGCTTC others(2): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02622.hp1 NA20300.hp1 |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0002a0001c0001t0011a0008c0010t0001 | a0001c0001t0002g0003 a0001c0001t0011g0038 a0008c0010t0001g0104 |
3 | 470 | 0.0064 | 9 | c.-13 others(20): Show |
SALL2 | ENSG00000165821.12 | transcript | ENST00000537235.2 | protein_coding | 1076 | chr14 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 949046 | A | AACAGCAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(384): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0004others(41): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(69): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(323): Show |
387 | 431 | 0.8979 | 9 | c.*48 others(20): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4473 | chr1 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118444305 | T | TTTATTTT others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0026 a0001c0001t0002g0148 a0001c0001t0002g0150 others(7): Show |
10 | 186 | 0.0538 | 9 | c.193 others(26): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar |