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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MELTF_chr3_196996740_197034817 | 197030146 | GCACAGCT others(77): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG00741.hp1 others(41): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(32): Show |
44 | 420 | 0.1048 | -84 | c.-52 others(93): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 330 | chr3 | TogoVar | |||||||
MIA2_chr14_39228915_39355694 | 39277672 | TTATATAT others(77): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02280.hp1 others(13): Show |
a0001a0009a0026others(1): Show | a0001c0026a0009c0009a0026c0038others(1): Show | a0001c0026t0002a0009c0009t0002a0026c0038t0002others(1): Show | a0001c0026t0002g0108 a0001c0026t0002g0109 a0009c0009t0002g0142 others(13): Show |
16 | 368 | 0.0435 | -84 | c.201 others(101): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79437891 | TGTGGAGT others(77): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01257.hp2 HG01517.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(3): Show | a0001c0001t0001g0271 a0001c0001t0001g0287 a0001c0001t0004g0269 others(7): Show |
11 | 390 | 0.0282 | -84 | c.-51 others(101): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MLIP_chr6_54106443_54271280 | 54252062 | TATTATAA others(77): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0011 | a0011c0011 | a0011c0011t0002 | a0011c0011t0002g0023 | 1 | 248 | 0.0040 | -84 | c.292 others(103): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | chr6 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544822 | GGGGGGAC others(77): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG03669.hp1 |
a0001a0032 | a0001c0001a0032c0048 | a0001c0001t0004a0032c0048t0001 | a0001c0001t0004g0150 a0032c0048t0001g0039 |
2 | 286 | 0.0070 | -84 | c.154 others(103): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MOXD1_chr6_132291055_132406475 | 132303802 | CACACATG others(77): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0314 | 1 | 318 | 0.0031 | -84 | c.150 others(103): Show |
MOXD1 | ENSG00000079931.15 | transcript | ENST00000367963.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
MPP7_chr10_28045993_28308064 | 28262197 | ATATATAT others(77): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0122 a0001c0001t0004g0121 a0001c0001t0004g0123 others(2): Show |
5 | 300 | 0.0167 | -84 | c.-13 others(105): Show |
MPP7 | ENSG00000150054.19 | transcript | ENST00000683449.1 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43495902 | GTGGTGGT others(77): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0003t0011 | a0001c0001t0002g0003 a0001c0002t0002g0091 a0001c0003t0011g0197 others(1): Show |
4 | 250 | 0.0160 | -84 | c.633 others(101): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496750 | AGTGGTGG others(77): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093 | 1 | 250 | 0.0040 | -84 | c.633 others(101): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRM1_chr17_36596583_36613964 | 36601383 | CTTAAAGG others(77): Show |
C | upstream_gene_variant | MODIFIER | HG03225.hp1 HG03471.hp2 HG03579.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0035 a0001c0001t0005g0021 |
6 | 395 | 0.0152 | -84 | c.-42 others(93): Show |
MRM1 | ENSG00000278619.5 | transcript | ENST00000614766.5 | protein_coding | 199 | chr17 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16102987 | ATACATGT others(77): Show |
A | downstream_gene_variant | MODIFIER | HG02895.hp2 HG03471.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0043a0001c0001t0044 | a0001c0001t0042g0053 a0001c0001t0043g0317 a0001c0001t0044g0080 |
3 | 330 | 0.0091 | -84 | c.*70 others(95): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 4893 | chr8 | TogoVar | |||||||
MTERF4_chr2_241090571_241107287 | 241093462 | TTGTGTCA others(77): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(144): Show |
a0001a0003a0004others(5): Show | a0001c0001a0003c0003a0004c0004others(6): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(26): Show |
147 | 398 | 0.3694 | -84 | c.*24 others(95): Show |
MTERF4 | ENSG00000122085.17 | transcript | ENST00000391980.7 | protein_coding | 2108 | chr2 | TogoVar | |||||||
MTFR1_chr8_65639734_65715562 | 65662026 | TCTCTCCC others(77): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00733.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0023 others(30): Show |
33 | 348 | 0.0948 | -84 | c.-80 others(101): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236794822 | CAATTAAC others(77): Show |
C | upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0329 | 1 | 372 | 0.0027 | -84 | c.-88 others(93): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 469 | chr1 | TogoVar | |||||||
MTUS2_chr13_28815339_29510947 | 29375525 | ATATATAT others(77): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0016 | a0004c0016t0012 | a0004c0016t0012g0076 | 1 | 92 | 0.0109 | -84 | c.311 others(105): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MXRA7_chr17_76674566_76715965 | 76706170 | GTCACAGA others(77): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01975.hp2 HG01978.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0001g0050 a0001c0001t0001g0062 others(7): Show |
11 | 416 | 0.0264 | -84 | c.342 others(101): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76706212 | ATCACAAA others(77): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(195): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(151): Show |
198 | 416 | 0.4760 | -84 | c.342 others(101): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76706218 | AAGGCCCA others(77): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0007a0001c0003t0009 | a0001c0001t0003g0274 a0001c0003t0007g0288 a0001c0003t0007g0289 others(4): Show |
7 | 416 | 0.0168 | -84 | c.342 others(101): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76706344 | GAGGCCCA others(77): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 416 | 0.0024 | -84 | c.342 others(101): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672001 | ATATATAT others(77): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0045 | 1 | 410 | 0.0024 | -84 | c.-17 others(95): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1660 | chr19 | TogoVar | |||||||
MYO3A_chr10_25929229_26217532 | 26075635 | CATATATG others(77): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0007 | a0007c0007 | a0007c0007t0018 | a0007c0007t0018g0184 | 1 | 280 | 0.0036 | -84 | c.135 others(103): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57688837 | TCAATGTA others(77): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0153 | 1 | 352 | 0.0028 | -84 | c.*43 others(95): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3474 | chr15 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667928 | CCTTACCT others(77): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 378 | 0.0027 | -84 | c.148 others(103): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668129 | TCCTTACC others(77): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0230 | 1 | 378 | 0.0027 | -84 | c.147 others(103): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504101 | CCCCAGTG others(77): Show |
C | upstream_gene_variant | MODIFIER | HG03669.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0053 a0001c0001t0005g0054 |
2 | 384 | 0.0052 | -84 | c.-42 others(95): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4122 | chr22 | TogoVar | |||||||
NCBP2L_chrX_107772733_107800829 | 107782254 | TATATATA others(77): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG01169.hp1 others(29): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0002g0040 others(29): Show |
32 | 303 | 0.1056 | -84 | c.-73 others(101): Show |
NCBP2L | ENSG00000170935.8 | transcript | ENST00000509000.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NCKAP5_chr2_132666788_133573463 | 133526213 | AAGGAAGG others(77): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0008 | 1 | 70 | 0.0143 | -84 | c.-61 others(101): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124373449 | GCAGTGAG others(77): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG02723.hp1 others(3): Show |
a0002a0023 | a0002c0001a0002c0014a0002c0126others(1): Show | a0002c0001t0003a0002c0001t0010a0002c0001t0080others(3): Show | a0002c0001t0003g0173 a0002c0001t0010g0204 a0002c0001t0080g0232 others(3): Show |
6 | 234 | 0.0256 | -84 | c.221 others(101): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 21/48 | chr12 | TogoVar | |||||||
NELFB_chr9_137250327_137278542 | 137263295 | ACTCCCCG others(77): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0087 | 1 | 364 | 0.0028 | -84 | c.927 others(98): Show |
NELFB | ENSG00000188986.9 | transcript | ENST00000343053.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NGB_chr14_77260483_77276206 | 77269719 | TCTCTCTC others(77): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02965.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0033 a0001c0001t0001g0078 a0001c0001t0004g0125 |
4 | 366 | 0.0109 | -84 | c.90- others(97): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
NLRP11_chr19_55780399_55836999 | 55821608 | AAACCCAT others(77): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01346.hp2 HG01891.hp2 others(29): Show |
a0001a0004a0012 | a0001c0001a0001c0003a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0011a0001c0003t0001others(19): Show | a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0011g0175 others(27): Show |
32 | 444 | 0.0721 | -84 | c.-62 others(101): Show |
NLRP11 | ENSG00000179873.14 | transcript | ENST00000589093.6 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NLRP3_chr1_247411173_247453817 | 247433890 | GTCAGATG others(77): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG00738.hp1 others(38): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0014others(1): Show | a0001c0001t0003a0001c0001t0018a0001c0003t0001others(7): Show | a0001c0001t0003g0061 a0001c0001t0018g0315 a0001c0003t0001g0003 others(34): Show |
41 | 440 | 0.0932 | -84 | c.232 others(100): Show |
NLRP3 | ENSG00000162711.18 | transcript | ENST00000336119.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NR5A2_chr1_200022710_200182415 | 200073238 | ATATATAT others(77): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0285 | 1 | 286 | 0.0035 | -84 | c.111 others(105): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NRIP3_chr11_8975576_9009001 | 8978632 | GTCAGCCC others(77): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG02071.hp1 HG04199.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0003 | a0001c0001t0003g0004 a0002c0003t0003g0014 a0002c0003t0003g0266 |
3 | 406 | 0.0074 | -84 | c.*48 others(95): Show |
NRIP3 | ENSG00000175352.12 | transcript | ENST00000309166.8 | protein_coding | 1943 | chr11 | TogoVar | |||||||
NUDT16_chr3_131376774_131393830 | 131379134 | TGATTACC others(77): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0004a0001c0001t0015a0001c0001t0026others(3): Show | a0001c0001t0004g0001 a0001c0001t0015g0001 a0001c0001t0026g0001 others(3): Show |
26 | 420 | 0.0619 | -84 | c.-26 others(95): Show |
NUDT16 | ENSG00000198585.12 | transcript | ENST00000521288.2 | protein_coding | 2639 | chr3 | TogoVar | |||||||
OR1F1_chr16_3183204_3211556 | 3197581 | CCACATGT others(77): Show |
C | intron_variant | MODIFIER | NA18963.hp2 NA18979.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0012 | a0001c0001t0003g0193 a0002c0002t0012g0076 |
2 | 328 | 0.0061 | -84 | c.-13 others(101): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
OR2T4_chr1_248356665_248367627 | 248361635 | ATGGGACT others(77): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(104): Show |
a0003 | a0003c0003a0003c0007a0003c0009 | a0003c0003t0001a0003c0007t0001a0003c0009t0001 | a0003c0003t0001g0000 a0003c0007t0001g0000 a0003c0009t0001g0000 |
107 | 428 | 0.2500 | -84 | c.-29 others(90): Show |
p.Met others(3): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 1/963 | 1/320 | chr1 | TogoVar | ||||
OR52E6_chr11_5835928_5846897 | 5844184 | ATTTATAT others(77): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(168): Show |
a0002a0004a0005others(7): Show | a0002c0002a0002c0018a0002c0021others(9): Show | a0002c0002t0001a0002c0018t0001a0002c0021t0001others(9): Show | a0002c0002t0001g0000 a0002c0018t0001g0000 a0002c0021t0001g0000 others(9): Show |
171 | 450 | 0.3800 | -84 | c.-23 others(95): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2288 | chr11 | TogoVar | |||||||
OR6B3_chr2_240039571_240058521 | 240042299 | GGAAGGGC others(77): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01081.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0015 | 3 | 444 | 0.0068 | -84 | c.*26 others(95): Show |
OR6B3 | ENSG00000178586.7 | transcript | ENST00000641019.2 | protein_coding | 2271 | chr2 | TogoVar | |||||||
OR6B3_chr2_240039571_240058521 | 240042700 | GTGGGTGA others(77): Show |
G | downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | -84 | c.*22 others(95): Show |
OR6B3 | ENSG00000178586.7 | transcript | ENST00000641019.2 | protein_coding | 1870 | chr2 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3680904 | CGTCCTCC others(77): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02257.hp1 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0190 a0001c0001t0001g0287 a0001c0009t0001g0183 others(10): Show |
14 | 362 | 0.0387 | -84 | c.106 others(101): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 10/11 | chr17 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1509627 | ATCTATCC others(77): Show |
A | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 114 | 0.0088 | -84 | c.-25 others(103): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 163269849 | GAAAGAAA others(77): Show |
G | intron_variant | MODIFIER | HG01169.hp2 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0076 a0001c0001t0005g0071 |
2 | 130 | 0.0154 | -84 | c.614 others(103): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116289137 | TATATATA others(77): Show |
T | intron_variant | MODIFIER | HG03041.hp2 NA19005.hp1 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0021a0002c0004t0018 | a0002c0003t0021g0181 a0002c0004t0018g0204 |
2 | 234 | 0.0086 | -84 | c.295 others(105): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAXBP1_chr21_32728899_32776755 | 32771865 | AGAGAGAG others(77): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 360 | 0.0056 | -84 | c.-28 others(93): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 111 | chr21 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771889 | AGAGAGAG others(77): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01256.hp1 HG01258.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0018 others(9): Show |
18 | 360 | 0.0500 | -84 | c.-30 others(93): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 135 | chr21 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54307018 | ATATATAT others(77): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0037 | a0037c0016 | a0037c0016t0001 | a0037c0016t0001g0028 | 1 | 102 | 0.0098 | -84 | c.876 others(103): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54421866 | CACACTAT others(77): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG02965.hp2 others(4): Show |
a0003a0005a0015others(2): Show | a0003c0003a0005c0005a0015c0023others(2): Show | a0003c0003t0001a0003c0003t0004a0005c0005t0004others(3): Show | a0003c0003t0001g0017 a0003c0003t0001g0084 a0003c0003t0004g0088 others(4): Show |
7 | 102 | 0.0686 | -84 | c.158 others(103): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54307018 | ATATATAT others(77): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0033 | a0033c0020 | a0033c0020t0001 | a0033c0020t0001g0025 | 1 | 94 | 0.0106 | -84 | c.876 others(103): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54421866 | CACACTAT others(77): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG02965.hp1 others(4): Show |
a0002a0003a0005others(2): Show | a0002c0006a0003c0003a0003c0005others(3): Show | a0002c0006t0005a0003c0003t0001a0003c0003t0002others(4): Show | a0002c0006t0005g0074 a0003c0003t0001g0017 a0003c0003t0002g0080 others(4): Show |
7 | 94 | 0.0745 | -84 | c.158 others(103): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar |