| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MAP1B_chr5_72102475_72214565 | 72117121 | T | TGAAAAAT others(340): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19066.hp2 |
a0001a0005 | a0001c0002a0005c0030 | a0001c0002t0002a0005c0030t0002 | a0001c0002t0002g0298a0005c0030t0002g0297 | 2 | 342 | 0.0059 | 347 | c.286 others(364): Show |
MAP1B | ENSG00000131711.15 | transcript | ENST00000296755.12 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MAP3K15_chrX_19355059_19520508 | 19477854 | A | AGGGGGGA others(340): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 163 | 0.0061 | 347 | c.525 others(364): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
| MAP3K15_chrX_19355059_19520508 | 19477854 | A | AGGGGGGA others(340): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 163 | 0.0061 | 347 | c.525 others(364): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
| MCM5_chr22_35395140_35430431 | 35397411 | A | ATAGAGGT others(340): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 404 | 0.0025 | 347 | c.-28 others(358): Show |
MCM5 | ENSG00000100297.16 | transcript | ENST00000216122.9 | protein_coding | 2728 | chr22 | TogoVar | ||||||
| MDN1_chr6_89637498_89824794 | 89667962 | G | GAAAAGAA others(340): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0004 | a0004c0008 | a0004c0008t0009 | a0004c0008t0009g0003 | 1 | 290 | 0.0035 | 347 | c.140 others(364): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 84/101 | chr6 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3587876 | C | CCAGGAGG others(340): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02602.hp2 NA18944.hp1 others(6): Show |
a0001a0002a0004others(4): Show | a0001c0007a0002c0002a0004c0004others(4): Show | a0001c0007t0020a0002c0002t0001a0004c0004t0021others(4): Show | a0001c0007t0020g0282a0002c0002t0001g0082a0004c0004t0021g0055others(6): Show | 9 | 292 | 0.0308 | 347 | c.376 others(364): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3587877 | C | CAGGAGGG others(340): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 NA18522.hp2 |
a0062a0072a0084 | a0062c0092a0072c0084a0084c0064 | a0062c0092t0022a0072c0084t0044a0084c0064t0035 | a0062c0092t0022g0186a0072c0084t0044g0006a0084c0064t0035g0001 | 3 | 292 | 0.0103 | 347 | c.376 others(364): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
| METRNL_chr17_83074609_83100122 | 83090345 | C | CCCCCACA others(340): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0365 | 1 | 399 | 0.0025 | 347 | c.557 others(364): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MIEN1_chr17_39723510_39735532 | 39735372 | T | TTTTTTTT others(340): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 364 | 0.0028 | 347 | c.-48 others(358): Show |
MIEN1 | ENSG00000141741.12 | transcript | ENST00000394231.8 | protein_coding | 4841 | chr17 | TogoVar | ||||||
| MIGA2_chr9_129031626_129077082 | 129033138 | T | TTTTTTTT others(340): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0221 | 1 | 300 | 0.0033 | 347 | c.-36 others(358): Show |
MIGA2 | ENSG00000148343.19 | transcript | ENST00000684074.1 | protein_coding | 3487 | chr9 | TogoVar | ||||||
| MOSPD2_chrX_14868421_14927327 | 14899114 | T | TGAACTAG others(340): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 268 | 0.0037 | 347 | c.478 others(364): Show |
MOSPD2 | ENSG00000130150.12 | transcript | ENST00000380492.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| MROH2A_chr2_233773330_233838418 | 233787914 | A | ATATATAC others(340): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0029 | a0029c0054 | a0029c0054t0001 | a0029c0054t0001g0071 | 1 | 378 | 0.0027 | 347 | c.277 others(364): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MROH9_chr1_170930534_171069765 | 170994904 | T | TAAGATTA others(340): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0014 | a0014c0017 | a0014c0017t0001 | a0014c0017t0001g0166 | 1 | 226 | 0.0044 | 347 | c.119 others(364): Show |
MROH9 | ENSG00000117501.15 | transcript | ENST00000367759.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(340): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 388 | 0.0026 | 347 | c.159 others(364): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MUC5AC_chr11_1152953_1206138 | 1155048 | T | TTACTCAC others(340): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01109.hp1 others(10): Show |
a0001a0006a0058others(3): Show | a0001c0004a0001c0044a0001c0063others(6): Show | a0001c0004t0001a0001c0044t0001a0001c0063t0001others(6): Show | a0001c0004t0001g0149a0001c0044t0001g0220a0001c0063t0001g0152others(10): Show | 13 | 292 | 0.0445 | 347 | c.-29 others(358): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 2904 | chr11 | TogoVar | ||||||
| MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(340): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 384 | 0.0026 | 347 | c.160 others(364): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64175795 | G | GTAGTTGT others(340): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 223 | 0.0045 | 347 | c.-99 others(366): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(340): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 223 | 0.0045 | 347 | c.289 others(364): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(340): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 223 | 0.0045 | 347 | c.289 others(364): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(340): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 223 | 0.0045 | 347 | c.289 others(364): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(340): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0074 | 1 | 223 | 0.0045 | 347 | c.289 others(364): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NAE1_chr16_66797878_66835976 | 66805487 | A | AAATTAGC others(340): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 376 | 0.0027 | 347 | c.149 others(364): Show |
NAE1 | ENSG00000159593.15 | transcript | ENST00000290810.8 | protein_coding | 19/19 | chr16 | TogoVar | ||||||
| NAV2_chr11_19707837_20126601 | 19941447 | T | TAATAAAT others(340): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02071.hp1 HG02083.hp2 others(1): Show |
a0002a0003a0004 | a0002c0011a0002c0101a0003c0066others(1): Show | a0002c0011t0006a0002c0101t0006a0003c0066t0009others(1): Show | a0002c0011t0006g0096a0002c0101t0006g0025a0003c0066t0009g0154others(1): Show | 4 | 166 | 0.0241 | 347 | c.214 others(366): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NAV2_chr11_19707837_20126601 | 19941447 | T | TAATAAAT others(340): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02083.hp1 HG02257.hp2 others(11): Show |
a0001a0002a0006others(2): Show | a0001c0008a0001c0070a0001c0072others(11): Show | a0001c0008t0016a0001c0070t0022a0001c0072t0001others(11): Show | a0001c0008t0016g0087a0001c0070t0022g0108a0001c0072t0001g0079others(11): Show | 14 | 166 | 0.0843 | 347 | c.214 others(366): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NAV2_chr11_19707837_20126601 | 19941447 | T | TAATAAAT others(340): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0015 | a0015c0107 | a0015c0107t0005 | a0015c0107t0005g0092 | 1 | 166 | 0.0060 | 347 | c.214 others(366): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NAV2_chr11_19707837_20126601 | 19941447 | T | TAATAAAT others(340): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01515.hp1 others(6): Show |
a0001a0002a0004others(4): Show | a0001c0030a0002c0004a0004c0001others(6): Show | a0001c0030t0040a0002c0004t0001a0004c0001t0001others(6): Show | a0001c0030t0040g0055a0002c0004t0001g0095a0004c0001t0001g0060others(6): Show | 9 | 166 | 0.0542 | 347 | c.214 others(366): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NAV2_chr11_19707837_20126601 | 19941447 | T | TAATAAAT others(340): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0034 | a0001c0034t0041 | a0001c0034t0041g0112 | 1 | 166 | 0.0060 | 347 | c.214 others(366): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NAV2_chr11_19707837_20126601 | 19941447 | T | TAATAAAT others(340): Show |
intron_variant | MODIFIER | NA18964.hp1 NA19088.hp2 |
a0002a0006 | a0002c0095a0006c0023 | a0002c0095t0013a0006c0023t0003 | a0002c0095t0013g0126a0006c0023t0003g0027 | 2 | 166 | 0.0121 | 347 | c.214 others(366): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAPG2_chr7_158626169_158709804 | 158667664 | T | TCCTTACC others(340): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0337 | 1 | 378 | 0.0027 | 347 | c.148 others(366): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158668243 | T | TCCTTACC others(340): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 378 | 0.0027 | 347 | c.147 others(366): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
| NELFB_chr9_137250327_137278542 | 137273724 | A | AATAATTC others(340): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0068 | 1 | 364 | 0.0028 | 347 | c.*79 others(356): Show |
NELFB | ENSG00000188986.9 | transcript | ENST00000343053.6 | protein_coding | 183 | chr9 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(340): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0218 | 1 | 362 | 0.0028 | 347 | c.-75 others(366): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995533 | C | CTGTATAT others(340): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 362 | 0.0028 | 347 | c.-75 others(366): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NLRP14_chr11_7015479_7076526 | 7071557 | T | TAAGAATG others(340): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG03486.hp2 others(2): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0001a0002c0002t0002a0006c0008t0001 | a0001c0001t0001g0011a0001c0001t0001g0042a0001c0001t0001g0123others(2): Show | 5 | 346 | 0.0145 | 347 | c.*24 others(356): Show |
NLRP14 | ENSG00000158077.5 | transcript | ENST00000299481.5 | protein_coding | 32 | chr11 | TogoVar | ||||||
| NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(340): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 356 | 0.0028 | 347 | c.91+ others(360): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149096 | C | CCACACCC others(340): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0052 | 1 | 294 | 0.0034 | 347 | c.901 others(362): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NRF1_chr7_129606720_129762076 | 129642756 | A | ACTTTTTT others(340): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 384 | 0.0026 | 347 | c.-6- others(364): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
| NRROS_chr3_196634694_196667004 | 196634720 | G | GGAGAAGT others(340): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0303 | 1 | 472 | 0.0021 | 347 | c.-51 others(358): Show |
NRROS | ENSG00000174004.6 | transcript | ENST00000328557.5 | protein_coding | 4973 | chr3 | TogoVar | ||||||
| NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(340): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0133 | 1 | 308 | 0.0033 | 347 | c.730 others(364): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
| NWD1_chr19_16714847_16822953 | 16738829 | T | TATACATT others(340): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0249 | 1 | 300 | 0.0033 | 347 | c.198 others(364): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NXN_chr17_794310_984776 | 841603 | C | CGACCACG others(340): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 242 | 0.0041 | 347 | c.361 others(366): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(340): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 242 | 0.0041 | 347 | c.361 others(366): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(340): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0079 | 1 | 438 | 0.0023 | 347 | c.-29 others(362): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(340): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 438 | 0.0023 | 347 | c.-29 others(362): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(340): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0111 | 1 | 438 | 0.0023 | 347 | c.-29 others(362): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| OR5W2_chr11_55908650_55919582 | 55912095 | G | GAAAAAAT others(340): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0000 | a0001c0002t0000g0000 | 1 | 436 | 0.0023 | 347 | c.*15 others(358): Show |
OR5W2 | ENSG00000187612.1 | transcript | ENST00000344514.1 | protein_coding | 1554 | chr11 | TogoVar | ||||||
| P2RY8_chrX_1457581_1542185 | 1514721 | C | CCTCCCCT others(340): Show |
intron_variant | MODIFIER | HG01070.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0020 | a0001c0001t0001g0016a0001c0004t0020g0017 | 2 | 114 | 0.0175 | 347 | c.-25 others(366): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
| PACS1_chr11_66065272_66249744 | 66240777 | T | TTAATCTT others(340): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0149 | 1 | 322 | 0.0031 | 347 | c.243 others(364): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100146840 | T | TAGAAATA others(340): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 174 | 0.0058 | 347 | c.301 others(364): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCDHGA1_chr5_141325514_141517975 | 141333382 | T | TAGAAACG others(340): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223 | 1 | 268 | 0.0037 | 347 | c.242 others(364): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |