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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOP14_chr4_2932936_2968406 | 2961123 | T | TATTAATA others(205): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 422 | 0.0024 | 212 | c.195 others(229): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NRCAM_chr7_108142649_108461436 | 108164029 | G | GTGAGAGG others(205): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 | 1 | 208 | 0.0048 | 212 | c.346 others(231): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | |||||||
NRCAM_chr7_108142649_108461436 | 108164056 | G | GGTAATGA others(205): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 208 | 0.0048 | 212 | c.346 others(231): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | |||||||
NTS_chr12_85869295_85887992 | 85879256 | A | ATATTTTA others(205): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 420 | 0.0024 | 212 | c.360 others(227): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
NTS_chr12_85869295_85887992 | 85879256 | A | ATATTTTA others(205): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 420 | 0.0024 | 212 | c.360 others(227): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949224 | G | GCCTCCTC others(205): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0052 | 1 | 242 | 0.0041 | 212 | c.360 others(231): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OPTN_chr10_13095163_13143308 | 13115253 | T | TTATATCT others(205): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0009 | a0001c0009t0011 | a0001c0009t0011g0274 | 1 | 418 | 0.0024 | 212 | c.553 others(227): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OPTN_chr10_13095163_13143308 | 13115253 | T | TTATATCT others(205): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0254 | 1 | 418 | 0.0024 | 212 | c.553 others(227): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OR10G3_chr14_21563520_21585076 | 21564215 | C | CCGCAGAA others(205): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0005 | 1 | 442 | 0.0023 | 212 | c.*55 others(223): Show |
OR10G3 | ENSG00000169208.3 | transcript | ENST00000641040.1 | protein_coding | 4304 | chr14 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408128 | G | GGGAGTTT others(205): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG00741.hp1 others(46): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0003a0001c0001t0007a0005c0005t0003others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0013 others(31): Show |
49 | 266 | 0.1842 | 212 | c.*10 others(223): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 109 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408140 | T | TGGGCTAG others(205): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 266 | 0.0038 | 212 | c.*10 others(223): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 121 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408347 | T | TAGCTCGG others(205): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0094 | 1 | 266 | 0.0038 | 212 | c.*12 others(223): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 328 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408432 | T | TGGCAGAT others(205): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0025 | 1 | 266 | 0.0038 | 212 | c.*13 others(223): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 413 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408519 | A | AGCATTTG others(205): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0094 | 1 | 266 | 0.0038 | 212 | c.*14 others(223): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 500 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408890 | A | AGCATTTG others(205): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0024 |
4 | 266 | 0.0150 | 212 | c.*17 others(223): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 871 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408943 | A | AGCATTTG others(205): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 266 | 0.0075 | 212 | c.*18 others(223): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 924 | chr1 | TogoVar | |||||||
OR4F17_chr19_102104_118156 | 107888 | T | TTATAAAT others(205): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0028 | 1 | 227 | 0.0044 | 212 | c.-55 others(227): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
OR4F5_chr1_60419_76585 | 66222 | T | TTATATAT others(205): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0051 | 1 | 215 | 0.0047 | 212 | c.9+6 others(223): Show |
OR4F5 | ENSG00000186092.7 | transcript | ENST00000641515.2 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
OR4F5_chr1_60419_76585 | 66249 | A | ATATATTA others(205): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01515.hp2 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0019 | 2 | 215 | 0.0093 | 212 | c.9+6 others(223): Show |
OR4F5 | ENSG00000186092.7 | transcript | ENST00000641515.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OSGIN1_chr16_83948240_83971332 | 83950484 | C | CACATGCA others(205): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 NA18955.hp1 NA19070.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0001 |
3 | 350 | 0.0086 | 212 | c.-29 others(223): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2755 | chr16 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(205): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03041.hp2 HG03130.hp1 others(4): Show |
a0001a0021 | a0001c0001a0001c0004a0021c0019 | a0001c0001t0009a0001c0001t0023a0001c0001t0034others(4): Show | a0001c0001t0009g0217 a0001c0001t0023g0205 a0001c0001t0034g0219 others(4): Show |
7 | 308 | 0.0227 | 212 | c.226 others(231): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(205): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 436 | 0.0023 | 212 | c.-26 others(223): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(205): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 NA19010.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 2 | 436 | 0.0046 | 212 | c.-26 others(223): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 759609 | T | TTCCGGAC others(205): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0002 | a0002c0002t0048 | a0002c0002t0048g0047 | 1 | 366 | 0.0027 | 212 | c.463 others(229): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 759761 | C | CTTCTCCT others(205): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0347 | 1 | 366 | 0.0027 | 212 | c.463 others(229): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66127175 | T | TAAGATTG others(205): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0035 | 1 | 118 | 0.0085 | 212 | c.282 others(233): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 976911 | C | CCCCGGGA others(205): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01884.hp2 HG02055.hp2 others(17): Show |
a0002a0015 | a0002c0002a0002c0008a0002c0011others(1): Show | a0002c0002t0002a0002c0008t0002a0002c0011t0002others(1): Show | a0002c0002t0002g0007 a0002c0002t0002g0047 a0002c0002t0002g0243 others(9): Show |
20 | 408 | 0.0490 | 212 | c.215 others(229): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 976911 | C | CCCCGGGA others(205): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0265 | 1 | 408 | 0.0025 | 212 | c.215 others(229): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 976943 | C | CCCCGGGA others(205): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0247 | 1 | 408 | 0.0025 | 212 | c.215 others(229): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PHF3_chr6_63630802_63731011 | 63688231 | C | CCCCCCTC others(205): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 320 | 0.0031 | 212 | c.218 others(231): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88712921 | C | CCCCCTTC others(205): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02280.hp2 others(3): Show |
a0024a0027a0078others(1): Show | a0024c0028a0027c0036a0078c0148others(1): Show | a0024c0028t0001a0024c0028t0010a0027c0036t0003others(2): Show | a0024c0028t0001g0221 a0024c0028t0010g0004 a0027c0036t0003g0013 others(3): Show |
6 | 282 | 0.0213 | 212 | c.*26 others(223): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2416 | chr16 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109340619 | C | CCTCTCCC others(205): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01256.hp1 HG01258.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0023 | a0003c0003t0002g0070 a0003c0003t0002g0077 a0003c0003t0002g0096 others(2): Show |
5 | 346 | 0.0145 | 212 | c.200 others(231): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 100372 | T | TAATCCAT others(205): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03195.hp2 |
a0006 | a0006c0020 | a0006c0020t0018a0006c0020t0056 | a0006c0020t0018g0198 a0006c0020t0056g0199 |
2 | 210 | 0.0095 | 212 | c.45+ others(227): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 100451 | C | CCTGTAGG others(205): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0033 | a0033c0077 | a0033c0077t0061 | a0033c0077t0061g0178 | 1 | 210 | 0.0048 | 212 | c.45+ others(227): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 100822 | T | TCTGTAGG others(205): Show |
intron_variant | MODIFIER | HG02897.hp2 NA18522.hp1 |
a0006a0040 | a0006c0074a0040c0076 | a0006c0074t0036a0040c0076t0037 | a0006c0074t0036g0206 a0040c0076t0037g0203 |
2 | 210 | 0.0095 | 212 | c.45+ others(227): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 100917 | C | CCTGGGAA others(205): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0006 | a0006c0073 | a0006c0073t0018 | a0006c0073t0018g0202 | 1 | 210 | 0.0048 | 212 | c.45+ others(227): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 100981 | T | TCTGTAGG others(205): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 NA18906.hp2 |
a0012 | a0012c0019a0012c0069 | a0012c0019t0050a0012c0019t0052a0012c0069t0046 | a0012c0019t0050g0182 a0012c0019t0052g0183 a0012c0069t0046g0186 |
3 | 210 | 0.0143 | 212 | c.45+ others(227): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101816 | C | CCTGGAAA others(205): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0053 | a0001c0053t0078 | a0001c0053t0078g0148 | 1 | 210 | 0.0048 | 212 | c.45+ others(227): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101880 | T | TCTGTAGG others(205): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 NA19030.hp2 |
a0018a0029a0043 | a0018c0033a0029c0059a0043c0035 | a0018c0033t0039a0029c0059t0040a0043c0035t0042 | a0018c0033t0039g0140 a0029c0059t0040g0158 a0043c0035t0042g0163 |
3 | 210 | 0.0143 | 212 | c.45+ others(227): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 102028 | C | CCTGGAAA others(205): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 NA18906.hp2 |
a0012 | a0012c0019a0012c0069 | a0012c0019t0050a0012c0019t0052a0012c0069t0046 | a0012c0019t0050g0182 a0012c0019t0052g0183 a0012c0069t0046g0186 |
3 | 210 | 0.0143 | 212 | c.45+ others(227): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 102163 | C | CTGTGAGG others(205): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0013 | a0001c0013t0035 | a0001c0013t0035g0122 | 1 | 210 | 0.0048 | 212 | c.45+ others(227): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 976911 | C | CCCCGGGA others(205): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01884.hp1 HG02055.hp2 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0007a0001c0010t0002others(6): Show | a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0041 others(11): Show |
22 | 422 | 0.0521 | 212 | c.*23 others(223): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1047 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 976911 | C | CCCCGGGA others(205): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0007 | a0007c0026 | a0007c0026t0002 | a0007c0026t0002g0038 | 1 | 422 | 0.0024 | 212 | c.*23 others(223): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1047 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 976943 | C | CCCCGGGA others(205): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0064 | 1 | 422 | 0.0024 | 212 | c.*23 others(223): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1079 | chr1 | TogoVar | |||||||
PNMA5_chrX_152983824_152999116 | 152998738 | T | TTTATATA others(205): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 286 | 0.0105 | 212 | c.-50 others(223): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4623 | chrX | TogoVar | |||||||
PNPLA1_chr6_36265060_36318955 | 36275948 | T | TTTTCTTT others(205): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02155.hp1 |
a0001a0003 | a0001c0003a0003c0007 | a0001c0003t0006a0003c0007t0001 | a0001c0003t0006g0369 a0003c0007t0001g0380 |
2 | 386 | 0.0052 | 212 | c.205 others(229): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809134 | G | GATAGATA others(205): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0010 | a0010c0021 | a0010c0021t0061 | a0010c0021t0061g0311 | 1 | 320 | 0.0031 | 212 | c.79- others(229): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241187752 | G | GAGGAGAA others(205): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 396 | 0.0025 | 212 | c.*49 others(223): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 4101 | chr2 | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 356822 | C | CGTGAGCC others(205): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0007 | a0007c0005 | a0007c0005t0003 | a0007c0005t0003g0006 | 1 | 25 | 0.0400 | 212 | c.510 others(229): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 2/12 | chrX | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397547 | A | AGGGGGGC others(205): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0006 | 1 | 340 | 0.0029 | 212 | c.227 others(229): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |