| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MSH4_chr1_75791882_75918242 | 75886229 | AGTATATA others(149): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02451.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0149a0001c0004t0003g0150a0001c0004t0003g0151others(2): Show | 5 | 332 | 0.0151 | -156 | c.210 others(19): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MYO1F_chr19_8515778_8582442 | 8543675 | CTGGTGGT others(149): Show |
C | intron_variant | MODIFIER | HG02071.hp1 NA18949.hp2 NA18994.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0006 | a0001c0001t0001g0247a0001c0001t0001g0324a0003c0004t0006g0298 | 3 | 342 | 0.0088 | -156 | c.152 others(17): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2085447 | ATGATCTC others(149): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0037 | a0002c0037t0001 | a0002c0037t0001g0047 | 1 | 403 | 0.0025 | -156 | c.164 others(16): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2085493 | TCACTGTT others(149): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp2 HG01192.hp1 others(2): Show |
a0002a0015a0027others(1): Show | a0002c0017a0015c0057a0027c0053others(1): Show | a0002c0017t0001a0015c0057t0001a0027c0053t0001others(1): Show | a0002c0017t0001g0071a0015c0057t0001g0165a0027c0053t0001g0002others(1): Show | 5 | 403 | 0.0124 | -156 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2085542 | GCCCCACT others(149): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG04204.hp1 |
a0001a0013 | a0001c0039a0013c0030 | a0001c0039t0001a0013c0030t0002 | a0001c0039t0001g0012a0013c0030t0002g0211 | 2 | 403 | 0.0050 | -156 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2085553 | ATGATCTC others(149): Show |
A | intron_variant | MODIFIER | NA18951.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0152 | 1 | 403 | 0.0025 | -156 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2086099 | CCCCCACT others(149): Show |
C | intron_variant | MODIFIER | NA18997.hp2 | a0077 | a0077c0135 | a0077c0135t0001 | a0077c0135t0001g0231 | 1 | 403 | 0.0025 | -156 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64175374 | TCTCCTGC others(149): Show |
T | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 223 | 0.0045 | -156 | c.-99 others(19): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NEU4_chr2_241804193_241822413 | 241805214 | TCCCCCTC others(149): Show |
T | upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 319 | 0.0031 | -156 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3978 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805223 | ACCCAGGG others(149): Show |
A | upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 319 | 0.0031 | -156 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3969 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805247 | CTCCCTCC others(149): Show |
C | upstream_gene_variant | MODIFIER | HG02132.hp2 HG03453.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0002a0001c0004t0001g0114 | 2 | 319 | 0.0063 | -156 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3945 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241807251 | CCACCTTC others(149): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG02809.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0001a0001c0002t0001g0053a0001c0004t0001g0049others(2): Show | 5 | 319 | 0.0157 | -156 | c.-20 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1941 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241807904 | CAGCCCAG others(149): Show |
C | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0095 | 1 | 319 | 0.0031 | -156 | c.-13 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1288 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241807919 | TGCAGGCC others(149): Show |
T | upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 319 | 0.0031 | -156 | c.-13 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1273 | chr2 | TogoVar | ||||||
| NRTN_chr19_5800067_5833324 | 5816020 | CAGGCGTG others(149): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03516.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0024a0002c0002t0001 | a0001c0003t0024g0036a0002c0002t0001g0116 | 2 | 402 | 0.0050 | -156 | c.-39 others(19): Show |
NRTN | ENSG00000171119.3 | transcript | ENST00000303212.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NTM_chr11_131365615_132341822 | 132069364 | ATCACAGG others(149): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 86 | 0.0116 | -156 | c.168 others(19): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| OPRL1_chr20_64075082_64105633 | 64090840 | AGGTGCCC others(149): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009a0001c0001t0009g0010 | 2 | 66 | 0.0303 | -156 | c.-18 others(18): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PEX5_chr12_7184686_7216459 | 7196795 | ATATATGT others(149): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00735.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0072a0001c0001t0001g0074others(11): Show | 17 | 428 | 0.0397 | -156 | c.449 others(17): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PIGQ_chr16_564968_589109 | 584944 | ACCTCCCG others(149): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(138): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0022a0002c0001others(3): Show | a0001c0002t0002a0001c0002t0015a0001c0022t0002others(4): Show | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0003others(86): Show | 141 | 408 | 0.3456 | -156 | c.*19 others(11): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 836 | chr16 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 400994 | GGACCCCG others(149): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01258.hp1 HG02622.hp2 |
a0001 | a0001c0006a0001c0021 | a0001c0006t0001a0001c0021t0001 | a0001c0006t0001g0058a0001c0006t0001g0060a0001c0021t0001g0086 | 3 | 216 | 0.0139 | -156 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PLD1_chr3_171595404_171815483 | 171626620 | CAAAGGGA others(149): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02970.hp2 |
a0001 | a0001c0009 | a0001c0009t0004a0001c0009t0013 | a0001c0009t0004g0074a0001c0009t0013g0118 | 2 | 294 | 0.0068 | -156 | c.259 others(19): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 23/26 | chr3 | TogoVar | ||||||
| PLXDC2_chr10_19811432_20294856 | 20126459 | AACACACG others(149): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA18906.hp2 |
a0005 | a0005c0006 | a0005c0006t0027a0005c0006t0129 | a0005c0006t0027g0160a0005c0006t0129g0138 | 2 | 180 | 0.0111 | -156 | c.542 others(19): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| POLE_chr12_132618762_132692342 | 132688337 | GGGGAGCG others(149): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00639.hp1 others(26): Show |
a0002 | a0002c0004a0002c0006a0002c0021others(1): Show | a0002c0004t0001a0002c0006t0001a0002c0021t0001others(1): Show | a0002c0004t0001g0011a0002c0004t0001g0251a0002c0004t0001g0252others(25): Show | 29 | 292 | 0.0993 | -156 | c.-11 others(11): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 996 | chr12 | TogoVar | ||||||
| POLG_chr15_89311320_89339824 | 89325043 | AGTGAGTG others(149): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0072 | 1 | 398 | 0.0025 | -156 | c.194 others(17): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66799427 | GTGGTGGT others(149): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG03540.hp2 NA18983.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0066a0001c0002t0058others(1): Show | a0001c0001t0003g0046a0001c0001t0066g0069a0001c0002t0058g0097others(1): Show | 4 | 178 | 0.0225 | -156 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2122571 | GGTGGTTA others(149): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG02129.hp1 HG02148.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0066a0001c0002t0001g0222a0001c0002t0001g0223others(5): Show | 8 | 286 | 0.0280 | -156 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2122619 | GGTGGTGG others(149): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG04184.hp1 NA18943.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0091a0001c0002t0001g0092a0001c0002t0001g0093others(6): Show | 9 | 286 | 0.0315 | -156 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PXDN_chr2_1626887_1749515 | 1710793 | ACTCCACC others(149): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp2 others(26): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0125a0001c0001t0001g0226others(26): Show | 29 | 322 | 0.0901 | -156 | c.201 others(19): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| PXMP2_chr12_132682587_132709985 | 132688337 | GGGGAGCG others(149): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00639.hp2 others(22): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003a0001c0003t0008 | a0001c0002t0002g0153a0001c0003t0003g0040a0001c0003t0003g0041others(17): Show | 25 | 350 | 0.0714 | -156 | c.122 others(15): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114028769 | GTCATCCT others(149): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003 | 2 | 67 | 0.0299 | -156 | c.449 others(15): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 5/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114104135 | CCACGGCC others(149): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02257.hp1 HG02280.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0009 | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0028others(2): Show | 5 | 67 | 0.0746 | -156 | c.55+ others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RBBP6_chr16_24534566_24577863 | 24574743 | TGGGCAGA others(149): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01106.hp2 others(34): Show |
a0001a0003a0007 | a0001c0003a0001c0014a0003c0017others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0014t0001others(2): Show | a0001c0003t0001g0007a0001c0003t0001g0014a0001c0003t0001g0021others(22): Show | 37 | 336 | 0.1101 | -156 | c.*22 others(11): Show |
RBBP6 | ENSG00000122257.20 | transcript | ENST00000319715.10 | protein_coding | 1881 | chr16 | TogoVar | ||||||
| RBFOX1_chr16_6014024_7718340 | 7186267 | CATAAACA others(149): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0039 | 1 | 68 | 0.0147 | -156 | c.27+ others(19): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBM26_chr13_79313868_79411255 | 79372873 | AATATTTT others(149): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0260 | 1 | 328 | 0.0031 | -156 | c.328 others(16): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 3/21 | chr13 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3309805 | AGGAGGAG others(149): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02004.hp2 HG02132.hp1 others(9): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0012others(3): Show | a0001c0001t0001a0001c0002t0001a0005c0012t0001others(3): Show | a0001c0001t0001g0059a0001c0001t0001g0062a0001c0002t0001g0164others(9): Show | 12 | 312 | 0.0385 | -156 | c.-10 others(19): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RIMBP2_chr12_130391133_130721299 | 130646137 | CCCTCACC others(149): Show |
C | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 180 | 0.0056 | -156 | c.-35 others(21): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
| RNASE10_chr14_20500537_20518884 | 20505743 | GGGAAGTG others(149): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00733.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0010a0001c0001t0013a0001c0001t0024others(6): Show | a0001c0001t0010g0012a0001c0001t0010g0019a0001c0001t0010g0027others(18): Show | 26 | 396 | 0.0657 | -156 | c.-25 others(9): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 1/2 | 4551 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
| RNF213_chr17_80255852_80403794 | 80260571 | CCGGCGGC others(149): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01346.hp1 HG01993.hp1 others(16): Show |
a0001a0002a0015others(6): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(15): Show | a0001c0001t0001g0112a0001c0001t0002g0070a0001c0003t0002g0107others(16): Show | 19 | 292 | 0.0651 | -156 | c.-43 others(9): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 280 | chr17 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80260601 | CCGGCGGC others(149): Show |
C | upstream_gene_variant | MODIFIER | NA18983.hp2 | a0034 | a0034c0140 | a0034c0140t0013 | a0034c0140t0013g0179 | 1 | 292 | 0.0034 | -156 | c.-40 others(9): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 250 | chr17 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80260631 | CCGGCGGC others(149): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(29): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0034others(24): Show | a0001c0001t0001g0118a0001c0001t0001g0141a0001c0001t0001g0226others(29): Show | 32 | 292 | 0.1096 | -156 | c.-37 others(9): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 220 | chr17 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80260661 | CCGGCGGC others(149): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp1 HG03209.hp2 NA19240.hp2 |
a0025a0076a0093 | a0025c0038a0076c0133a0093c0106 | a0025c0038t0006a0076c0133t0081a0093c0106t0018 | a0025c0038t0006g0013a0076c0133t0081g0008a0093c0106t0018g0032 | 3 | 292 | 0.0103 | -156 | c.-34 others(9): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 190 | chr17 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80314178 | ATGGTGGT others(149): Show |
A | intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0121 | a0002c0121t0004 | a0002c0121t0004g0067 | 1 | 292 | 0.0034 | -156 | c.281 others(19): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RNF213_chr17_80255852_80403794 | 80315093 | ATGGAGGT others(149): Show |
A | intron_variant | MODIFIER | NA18946.hp1 NA18954.hp1 NA18960.hp1 others(1): Show |
a0003a0004a0024 | a0003c0077a0004c0009a0024c0026 | a0003c0077t0023a0004c0009t0009a0024c0026t0007 | a0003c0077t0023g0056a0004c0009t0009g0043a0004c0009t0009g0265others(1): Show | 4 | 292 | 0.0137 | -156 | c.281 others(19): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RORA_chr15_60483284_61234302 | 60816082 | GTATACTG others(149): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0085 | 1 | 118 | 0.0085 | -156 | c.167 others(21): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 287317 | TCTCTCCA others(149): Show |
T | intron_variant | MODIFIER | HG02071.hp1 HG03831.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0091a0001c0002t0007g0112 | 2 | 133 | 0.0150 | -156 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80681657 | ATGAGGTG others(149): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00735.hp1 others(34): Show |
a0001a0005 | a0001c0004a0001c0005a0001c0006others(27): Show | a0001c0004t0035a0001c0005t0074a0001c0005t0075others(32): Show | a0001c0004t0035g0004a0001c0005t0074g0008a0001c0005t0075g0009others(34): Show | 37 | 196 | 0.1888 | -156 | c.349 others(19): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RYR2_chr1_237037184_237838988 | 237609073 | GCTGACAG others(149): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0028 | a0001c0028t0007 | a0001c0028t0007g0062 | 1 | 100 | 0.0100 | -156 | c.468 others(19): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 35/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RYR2_chr1_237037184_237838988 | 237609110 | CTGATGTG others(149): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00738.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(20): Show | a0001c0001t0001g0012a0001c0001t0003g0089a0001c0001t0003g0100others(21): Show | 24 | 100 | 0.2400 | -156 | c.468 others(19): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 35/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| S1PR4_chr19_3173769_3185332 | 3177739 | ATCGGGCT others(149): Show |
A | upstream_gene_variant | MODIFIER | NA18944.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 418 | 0.0048 | -156 | c.-10 others(10): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 1029 | chr19 | TogoVar | ||||||
| S1PR4_chr19_3173769_3185332 | 3177778 | ATCGGGCT others(149): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 418 | 0.0120 | -156 | c.-10 others(10): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 990 | chr19 | TogoVar |