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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RSRC1_chr3_158105089_158550730 | 158455979 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0195 a0001c0001t0004g0156 a0001c0001t0004g0191 others(27): Show |
30 | 64 | 0.4688 | -15 | c.584 others(32): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158517755 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(1): Show |
4 | 118 | 0.0339 | -15 | c.653 others(34): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSU1_chr10_16585611_16822424 | 16697987 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 21 | 0.0476 | -15 | c.599 others(32): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16757028 | AGTGTGTG others(8): Show |
A | intron_variant | MODIFIER | HG02257.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0052 a0001c0001t0017g0016 |
2 | 188 | 0.0106 | -15 | c.282 others(32): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 4/8 | chr10 | TogoVar | |||||||
RTF1_chr15_41412095_41488563 | 41426690 | CCCCCCCC others(8): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 224 | 0.0045 | -15 | c.198 others(32): Show |
RTF1 | ENSG00000137815.15 | transcript | ENST00000389629.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RTL1_chr14_100874753_100908722 | 100894322 | AAAAAGAA others(8): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02572.hp1 others(7): Show |
a0001a0005a0017 | a0001c0003a0001c0004a0001c0013others(2): Show | a0001c0003t0003a0001c0004t0003a0001c0004t0011others(4): Show | a0001c0003t0003g0097 a0001c0003t0003g0128 a0001c0004t0003g0165 others(6): Show |
10 | 428 | 0.0234 | -15 | c.-14 others(32): Show |
RTL1 | ENSG00000254656.3 | transcript | ENST00000649591.1 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
RTL6_chr22_44487583_44503233 | 44494649 | TTGTGGAC others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(187): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0004g0004 others(26): Show |
190 | 400 | 0.4750 | -15 | c.*21 others(26): Show |
RTL6 | ENSG00000188636.4 | transcript | ENST00000341255.4 | protein_coding | 2/2 | 2173 | chr22 | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59819410 | CACCACCC others(8): Show |
C | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 164 | 0.0061 | -15 | c.241 others(34): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59819411 | ACCACCCC others(8): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG02155.hp1 HG02922.hp1 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0011 a0001c0001t0001g0073 a0005c0008t0001g0170 |
3 | 124 | 0.0242 | -15 | c.241 others(34): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59819417 | CCCCCCCC others(8): Show |
C | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 165 | 0.0061 | -15 | c.241 others(34): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1942357 | GACTGGGT others(8): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01175.hp2 HG01192.hp1 others(46): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0197 a0001c0001t0001g0264 a0001c0001t0002g0028 others(46): Show |
49 | 382 | 0.1283 | -15 | c.14- others(30): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1982613 | CAAAAGAA others(8): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp1 others(66): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0002g0065 others(65): Show |
69 | 284 | 0.2430 | -15 | c.13+ others(32): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL2_chr11_57455528_57482534 | 57478823 | TAAAAAAA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02280.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0046 others(9): Show |
15 | 106 | 0.1415 | -15 | c.*19 others(26): Show |
RTN4RL2 | ENSG00000186907.8 | transcript | ENST00000335099.8 | protein_coding | 1290 | chr11 | TogoVar | |||||||
RTN4RL2_chr11_57455528_57482534 | 57481549 | TCCCTCCC others(8): Show |
T | downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 346 | 0.0029 | -15 | c.*46 others(26): Show |
RTN4RL2 | ENSG00000186907.8 | transcript | ENST00000335099.8 | protein_coding | 4016 | chr11 | TogoVar | |||||||
RTP1_chr3_187192486_187206462 | 187204284 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG04199.hp2 |
a0005 | a0005c0005 | a0005c0005t0019 | a0005c0005t0019g0001 | 3 | 205 | 0.0146 | -15 | c.*42 others(26): Show |
RTP1 | ENSG00000175077.6 | transcript | ENST00000312295.5 | protein_coding | 2823 | chr3 | TogoVar | |||||||
RTTN_chr18_69998031_70210687 | 70086694 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00621.hp2 others(48): Show |
a0001a0002a0004others(2): Show | a0001c0005a0001c0006a0001c0008others(9): Show | a0001c0005t0002a0001c0006t0001a0001c0006t0020others(17): Show | a0001c0005t0002g0106 a0001c0005t0002g0107 a0001c0006t0001g0122 others(48): Show |
51 | 57 | 0.8947 | -15 | c.430 others(30): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 31/48 | chr18 | TogoVar | |||||||
RTTN_chr18_69998031_70210687 | 70086719 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG02738.hp1 |
a0001a0002 | a0001c0011a0002c0017 | a0001c0011t0004a0002c0017t0002 | a0001c0011t0004g0151 a0001c0011t0004g0152 a0002c0017t0002g0102 |
3 | 154 | 0.0195 | -15 | c.430 others(30): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 31/48 | chr18 | TogoVar | |||||||
RUBCNL_chr13_46329681_46392252 | 46388369 | GGAAGGAA others(8): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01346.hp1 HG01358.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0031a0001c0001t0082others(2): Show | a0001c0001t0009g0031 a0001c0001t0009g0289 a0001c0001t0009g0290 others(7): Show |
11 | 354 | 0.0311 | -15 | c.-14 others(26): Show |
RUBCNL | ENSG00000102445.20 | transcript | ENST00000429979.6 | protein_coding | 1118 | chr13 | TogoVar | |||||||
RUBCNL_chr13_46329681_46392252 | 46391553 | ATGTTAAT others(8): Show |
A | upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 354 | 0.0028 | -15 | c.-46 others(26): Show |
RUBCNL | ENSG00000102445.20 | transcript | ENST00000429979.6 | protein_coding | 4302 | chr13 | TogoVar | |||||||
RUBCN_chr3_197663867_197741904 | 197703397 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG01934.hp1 others(10): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0045a0002c0003t0046 | a0002c0003t0003g0001 a0002c0003t0003g0003 a0002c0003t0003g0009 others(6): Show |
13 | 61 | 0.2131 | -15 | c.570 others(30): Show |
RUBCN | ENSG00000145016.17 | transcript | ENST00000296343.10 | protein_coding | 5/19 | chr3 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179600684 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02809.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0237 a0001c0003t0002g0248 |
2 | 34 | 0.0588 | -15 | c.176 others(34): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY2_chr10_68338408_68412277 | 68367643 | TTCTTTTC others(8): Show |
T | intron_variant | MODIFIER | HG03579.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0203 a0001c0001t0021g0258 |
2 | 274 | 0.0073 | -15 | c.132 others(34): Show |
RUFY2 | ENSG00000204130.14 | transcript | ENST00000602465.6 | protein_coding | 13/17 | chr10 | TogoVar | |||||||
RUFY3_chr4_70716964_70813619 | 70733080 | AGAGAGAG others(8): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0005 | a0002c0005t0022 | a0002c0005t0022g0011 | 1 | 252 | 0.0040 | -15 | c.178 others(34): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87626362 | ATATATGT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01433.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0034a0001c0001t0079 | a0001c0001t0017g0112 a0001c0001t0034g0079 a0001c0001t0079g0024 |
3 | 199 | 0.0151 | -15 | c.-24 others(26): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2035 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626398 | CATATGTA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0044 | 1 | 200 | 0.0050 | -15 | c.-24 others(26): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1999 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626579 | ATGTGTCA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0194 | 1 | 174 | 0.0057 | -15 | c.-22 others(26): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1818 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626709 | ATGTGTCA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0195 | 1 | 161 | 0.0062 | -15 | c.-21 others(26): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1688 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87736872 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015 | a0001c0001t0010g0010 a0001c0001t0015g0154 |
2 | 200 | 0.0100 | -15 | c.459 others(32): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 91982918 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0027a0001c0001t0028others(2): Show | a0001c0001t0009g0019 a0001c0001t0027g0006 a0001c0001t0028g0005 others(2): Show |
5 | 32 | 0.1563 | -15 | c.127 others(34): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 9/11 | chr8 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 92082888 | AGAGGAGG others(8): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG02145.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0044a0001c0001t0056others(5): Show | a0001c0001t0001g0132 a0001c0001t0044g0014 a0001c0001t0056g0012 others(5): Show |
8 | 130 | 0.0615 | -15 | c.-85 others(32): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34849378 | TACATAGT others(8): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01975.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0001g0132 a0001c0001t0007g0015 a0001c0002t0001g0067 others(2): Show |
5 | 152 | 0.0329 | -15 | c.613 others(34): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 6/8 | chr21 | TogoVar | |||||||
RUNX2_chr6_45323330_45556082 | 45398991 | GTTTACAA others(8): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01255.hp1 HG02145.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0133 a0001c0001t0001g0134 others(9): Show |
12 | 176 | 0.0682 | -15 | c.59- others(32): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45511578 | ATGAGAGT others(8): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0157 | 1 | 176 | 0.0057 | -15 | c.860 others(30): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUSC1_chr1_155315894_155336114 | 155334437 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 313 | 0.0032 | -15 | c.*38 others(26): Show |
RUSC1 | ENSG00000160753.17 | transcript | ENST00000368352.10 | protein_coding | 3324 | chr1 | TogoVar | |||||||
RUSF1_chr16_31484475_31513391 | 31497544 | CCAGGCGG others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 376 | 0.0053 | -15 | c.601 others(30): Show |
RUSF1 | ENSG00000140688.18 | transcript | ENST00000327237.7 | protein_coding | 5/12 | chr16 | TogoVar | |||||||
RUVBL2_chr19_48988887_49020970 | 49009160 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18962.hp2 NA18963.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0107 a0001c0002t0001g0080 |
2 | 27 | 0.0741 | -15 | c.463 others(30): Show |
RUVBL2 | ENSG00000183207.15 | transcript | ENST00000595090.6 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RWDD2B_chr21_28999384_29024349 | 29003605 | TAAAAAAA others(8): Show |
T | downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 32 | 0.0313 | -15 | c.*27 others(26): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 778 | chr21 | TogoVar | |||||||
RXRA_chr9_134321455_134445585 | 134444562 | TCCTTTCC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0151 a0001c0001t0012g0159 a0001c0001t0012g0162 |
3 | 230 | 0.0130 | -15 | c.*79 others(26): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 3978 | chr9 | TogoVar | |||||||
RXRG_chr1_165395922_165450126 | 165427402 | ATGTTTTG others(8): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 a0001c0001t0003g0251 |
3 | 58 | 0.0517 | -15 | c.297 others(32): Show |
RXRG | ENSG00000143171.13 | transcript | ENST00000359842.10 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134197025 | CATTGCTT others(8): Show |
C | intron_variant | MODIFIER | NA18984.hp1 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0089 |
2 | 374 | 0.0053 | -15 | c.789 others(32): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 6/14 | chr3 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134235910 | GAGTGACT others(8): Show |
G | intron_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0315 | 1 | 374 | 0.0027 | -15 | c.233 others(34): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38537224 | GTGCGCCT others(8): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG01891.hp1 HG01975.hp2 others(4): Show |
a0001a0005 | a0001c0027a0001c0096a0005c0007 | a0001c0027t0001a0001c0096t0001a0005c0007t0002 | a0001c0027t0001g0030 a0001c0027t0001g0098 a0001c0096t0001g0099 others(4): Show |
7 | 216 | 0.0324 | -15 | c.116 others(34): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 83/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38551025 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01071.hp2 HG01169.hp1 others(9): Show |
a0001a0003a0008others(1): Show | a0001c0067a0003c0006a0003c0050others(5): Show | a0001c0067t0001a0003c0006t0001a0003c0050t0003others(5): Show | a0001c0067t0001g0192 a0003c0006t0001g0064 a0003c0006t0001g0074 others(9): Show |
12 | 57 | 0.2105 | -15 | c.122 others(36): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38590389 | AAAAAAAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp2 NA20300.hp2 |
a0001a0015 | a0001c0110a0015c0080 | a0001c0110t0001a0015c0080t0001 | a0001c0110t0001g0179 a0015c0080t0001g0142 |
2 | 211 | 0.0095 | -15 | c.*29 others(26): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2826 | chr19 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38590391 | AAAAATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0066 | a0001c0066t0001 | a0001c0066t0001g0085 | 1 | 214 | 0.0047 | -15 | c.*29 others(26): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2828 | chr19 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237117671 | CCTTCTCT others(8): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp2 HG01109.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0003a0001c0003t0005a0001c0004t0004others(6): Show | a0001c0001t0003g0023 a0001c0003t0005g0018 a0001c0004t0004g0045 others(6): Show |
9 | 17 | 0.5294 | -15 | c.48+ others(32): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237148522 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0025 | a0002c0025t0037 | a0002c0025t0037g0003 | 1 | 98 | 0.0102 | -15 | c.48+ others(34): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237248738 | CTAGACAT others(8): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0057 | 1 | 100 | 0.0100 | -15 | c.49- others(32): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237556279 | ATATTATT others(8): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01243.hp2 HG02922.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0007others(4): Show | a0001c0002t0001a0001c0005t0013a0001c0007t0001others(6): Show | a0001c0002t0001g0070 a0001c0005t0013g0061 a0001c0007t0001g0020 others(6): Show |
9 | 15 | 0.6000 | -15 | c.321 others(34): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237591159 | TTCCCCCT others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp2 NA18747.hp1 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0013a0001c0007t0021 | a0001c0005t0013g0061 a0001c0007t0021g0048 |
2 | 28 | 0.0714 | -15 | c.416 others(32): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 31/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |