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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LYPD8_chr1_248734415_248760759 | 248747958 | CCCCGCAC others(86): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0193 | 1 | 362 | 0.0028 | -93 | c.337 others(108): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1861395 | TCACTGCT others(86): Show |
T | intron_variant | MODIFIER | HG02976.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0262 a0001c0001t0006g0263 |
2 | 45 | 0.0444 | -93 | c.199 others(114): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19237572 | ATATAATT others(86): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02280.hp2 others(6): Show |
a0006a0021a0036others(6): Show | a0006c0039a0021c0014a0036c0049others(6): Show | a0006c0039t0001a0021c0014t0001a0036c0049t0001others(6): Show | a0006c0039t0001g0134 a0021c0014t0001g0096 a0036c0049t0001g0022 others(6): Show |
9 | 63 | 0.1429 | -93 | c.299 others(114): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579069 | TCACCACC others(86): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0159 a0004c0005t0001g0160 |
2 | 289 | 0.0069 | -93 | c.391 others(108): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAPK1_chr22_21754657_21872645 | 21814632 | ACCAGCCT others(86): Show |
A | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 345 | 0.0029 | -93 | c.120 others(110): Show |
MAPK1 | ENSG00000100030.15 | transcript | ENST00000215832.11 | protein_coding | 1/8 | chr22 | TogoVar | |||||||
MARS1_chr12_57483068_57521652 | 57493785 | TATATTAT others(86): Show |
T | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 286 | 0.0035 | -93 | c.770 others(110): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MDP1_chr14_24208943_24221066 | 24209057 | GAAAGCTA others(86): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0033 |
6 | 104 | 0.0577 | -93 | c.*48 others(104): Show |
MDP1 | ENSG00000213920.9 | transcript | ENST00000288087.12 | protein_coding | 4885 | chr14 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090392 | CACACACA others(86): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 390 | 0.0026 | -93 | c.557 others(110): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
MGAM_chr7_141990879_142111747 | 142043727 | ATATAATA others(86): Show |
A | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 180 | 0.0056 | -93 | c.249 others(112): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MIA2_chr14_39228915_39355694 | 39285571 | CCCCCCGA others(86): Show |
C | intron_variant | MODIFIER | NA18939.hp2 NA18990.hp1 NA19012.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0317 |
3 | 366 | 0.0082 | -93 | c.213 others(112): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79438765 | TTGTGGAT others(86): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG02622.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0008 | a0001c0001t0001g0010 a0001c0006t0008g0111 |
2 | 217 | 0.0092 | -93 | c.-51 others(110): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544525 | GGGGGACA others(86): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG03130.hp2 HG03710.hp2 others(2): Show |
a0002a0007a0008others(2): Show | a0002c0002a0007c0007a0008c0011others(2): Show | a0002c0002t0001a0007c0007t0002a0008c0011t0001others(2): Show | a0002c0002t0001g0056 a0007c0007t0002g0032 a0008c0011t0001g0091 others(2): Show |
5 | 255 | 0.0196 | -93 | c.153 others(112): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MMADHC_chr2_149564637_149592775 | 149575610 | TGAATAAA others(86): Show |
T | splice_region_variant others(1): Show |
LOW | HG02572.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0076 |
2 | 332 | 0.0060 | -93 | c.609 others(106): Show |
MMADHC | ENSG00000168288.13 | transcript | ENST00000303319.10 | protein_coding | 6/7 | chr2 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43495666 | AGGTGGTG others(86): Show |
A | intron_variant | MODIFIER | HG01167.hp2 NA19007.hp1 NA19011.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0008 | a0001c0001t0001g0219 a0001c0001t0003g0185 a0001c0002t0008g0100 |
3 | 241 | 0.0124 | -93 | c.633 others(110): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496239 | TGGTGGTG others(86): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0200 | 1 | 240 | 0.0042 | -93 | c.633 others(110): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496247 | GAGGTGGT others(86): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0068 | 1 | 248 | 0.0040 | -93 | c.633 others(110): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43496683 | TGGTGGTG others(86): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0031 | 1 | 244 | 0.0041 | -93 | c.633 others(110): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195773554 | TATCGCTC others(86): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 HG03209.hp2 others(2): Show |
a0075a0082a0088others(2): Show | a0075c0113a0082c0112a0088c0111others(2): Show | a0075c0113t0001a0082c0112t0001a0088c0111t0002others(2): Show | a0075c0113t0001g0008 a0082c0112t0001g0019 a0088c0111t0002g0010 others(2): Show |
5 | 248 | 0.0202 | -93 | c.130 others(112): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195782385 | TGCTGAGG others(86): Show |
T | disruptive_inframe_deletion | MODERATE | NA18906.hp2 | a0102 | a0102c0136 | a0102c0136t0005 | a0102c0136t0005g0240 | 1 | 244 | 0.0041 | -93 | c.910 others(102): Show |
p.Thr others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9306/16756 | 9102/16239 | 3034/5412 | chr3 | TogoVar | |||
MXRA5_chrX_3303565_3351652 | 3341396 | ATAATATA others(86): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 261 | 0.0038 | -93 | c.188 others(110): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543726 | CTGGTGGT others(86): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 248 | 0.0040 | -93 | c.152 others(110): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57687500 | TGTGTGTA others(86): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(7): Show | a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0183 others(58): Show |
62 | 243 | 0.2551 | -93 | c.*30 others(104): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2137 | chr15 | TogoVar | |||||||
NCEH1_chr3_172625249_172716067 | 172671624 | GTATAAAT others(86): Show |
G | intron_variant | MODIFIER | HG02129.hp2 NA19001.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0174 a0002c0002t0003g0308 |
2 | 330 | 0.0061 | -93 | c.139 others(112): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
NDUFB11_chrX_47137216_47149702 | 47148585 | TATGTATC others(86): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01243.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show |
18 | 111 | 0.1622 | -93 | c.-39 others(104): Show |
NDUFB11 | ENSG00000147123.12 | transcript | ENST00000377811.4 | protein_coding | 3884 | chrX | TogoVar | |||||||
NFATC4_chr14_24363184_24384601 | 24364552 | GTACATAT others(86): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(90): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0022a0002c0003others(5): Show | a0001c0001t0004a0001c0022t0003a0002c0003t0002others(8): Show | a0001c0001t0004g0002 a0001c0022t0003g0005 a0002c0003t0002g0001 others(16): Show |
93 | 333 | 0.2793 | -93 | c.-37 others(104): Show |
NFATC4 | ENSG00000100968.14 | transcript | ENST00000250373.9 | protein_coding | 3631 | chr14 | TogoVar | |||||||
NKAPD1_chr11_112069299_112090150 | 112080110 | TGGCCTGG others(86): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0048 | 1 | 380 | 0.0026 | -93 | c.171 others(108): Show |
NKAPD1 | ENSG00000150776.18 | transcript | ENST00000393047.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTSR1_chr20_62703836_62767771 | 62747399 | ACCCACAG others(86): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0127 | 1 | 314 | 0.0032 | -93 | c.715 others(110): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133140955 | AGAAGAAG others(86): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0040 | 1 | 63 | 0.0159 | -93 | c.62- others(112): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OR1N1_chr9_122521358_122532293 | 122531983 | GGCAAATC others(86): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(156): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0002c0002others(3): Show | a0001c0004t0001a0001c0006t0001a0002c0002t0001others(3): Show | a0001c0004t0001g0000 a0001c0006t0001g0000 a0002c0002t0001g0000 others(3): Show |
159 | 450 | 0.3533 | -93 | c.-47 others(104): Show |
OR1N1 | ENSG00000171505.6 | transcript | ENST00000304880.2 | protein_coding | 4691 | chr9 | TogoVar | |||||||
OR1N1_chr9_122521358_122532293 | 122532072 | TGGGAGCA others(86): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(247): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0005t0001g0000 others(3): Show |
250 | 450 | 0.5556 | -93 | c.-48 others(104): Show |
OR1N1 | ENSG00000171505.6 | transcript | ENST00000304880.2 | protein_coding | 4780 | chr9 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38161669 | CATGTCAT others(86): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp2 NA18943.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0183 a0002c0002t0002g0232 |
2 | 118 | 0.0169 | -93 | c.-42 others(104): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 3867 | chr3 | TogoVar | |||||||
PAK1IP1_chr6_10689972_10714782 | 10698218 | CAGCAATA others(86): Show |
C | intron_variant | MODIFIER | HG00558.hp2 NA18948.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0093 |
3 | 254 | 0.0118 | -93 | c.247 others(108): Show |
PAK1IP1 | ENSG00000111845.5 | transcript | ENST00000379568.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 109779902 | TGGCATCT others(86): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0033 | 1 | 220 | 0.0045 | -93 | c.-58 others(102): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 295 | chr9 | TogoVar | |||||||
PAQR5_chr15_69293912_69412780 | 69384410 | CGGGCCCT others(86): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02155.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0073 a0001c0001t0003g0131 a0001c0001t0003g0244 others(4): Show |
7 | 89 | 0.0787 | -93 | c.180 others(108): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204648915 | TATATCAT others(86): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0006 | a0006c0007 | a0006c0007t0005 | a0006c0007t0005g0040 | 1 | 39 | 0.0256 | -93 | c.121 others(112): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 307233 | TGTGTGCT others(86): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(117): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 others(111): Show |
120 | 358 | 0.3352 | -93 | c.367 others(108): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741349 | CGGGGGGG others(86): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0104 | 1 | 269 | 0.0037 | -93 | c.143 others(108): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402537 | GTGTATAC others(86): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02723.hp1 HG02970.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0016others(3): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(8): Show |
11 | 205 | 0.0537 | -93 | c.844 others(114): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977190 | CACCAACC others(86): Show |
C | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 281 | 0.0036 | -93 | c.215 others(110): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229084846 | CTTTAAAG others(86): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00642.hp1 others(66): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0044 a0001c0001t0001g0048 others(66): Show |
69 | 254 | 0.2717 | -93 | c.178 others(112): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401485 | CCCCGGCC others(86): Show |
C | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 205 | 0.0049 | -93 | c.173 others(110): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401863 | ACCCCGCT others(86): Show |
A | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0005 | 1 | 166 | 0.0060 | -93 | c.173 others(112): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17349147 | TTTCTTTC others(86): Show |
T | downstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341 | 1 | 434 | 0.0023 | -93 | c.*31 others(104): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2307 | chr19 | TogoVar | |||||||
PMEPA1_chr20_57643396_57715015 | 57664523 | GGCTCTCC others(86): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG02965.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0013 | a0001c0005t0001g0011 a0001c0005t0001g0085 a0001c0005t0001g0187 others(1): Show |
5 | 358 | 0.0140 | -93 | c.110 others(110): Show |
PMEPA1 | ENSG00000124225.16 | transcript | ENST00000341744.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2121523 | CATGGCAG others(86): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 279 | 0.0036 | -93 | c.335 others(112): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2122122 | CGGTGGTG others(86): Show |
C | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0137 | 1 | 145 | 0.0069 | -93 | c.335 others(112): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122156 | GGTGGTTA others(86): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021 | 1 | 252 | 0.0040 | -93 | c.335 others(112): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122619 | GGTGGTGG others(86): Show |
G | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0246 | 1 | 271 | 0.0037 | -93 | c.335 others(112): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123460 | GGTGGTTA others(86): Show |
G | intron_variant | MODIFIER | HG03130.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0169 |
2 | 238 | 0.0084 | -93 | c.335 others(112): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRPF6_chr20_63976132_64038100 | 63983410 | AGAAGAGA others(86): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG01358.hp2 others(5): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 others(5): Show |
8 | 292 | 0.0274 | -93 | c.240 others(108): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |