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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MS4A4E_chr11_60195270_60248137 | 60206479 | A | ATATATAT others(289): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0040 | 2 | 366 | 0.0055 | 296 | c.484 others(311): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
MS4A4E_chr11_60195270_60248137 | 60206479 | A | ATATATAT others(289): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0039 | 2 | 366 | 0.0055 | 296 | c.484 others(311): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
MS4A4E_chr11_60195270_60248137 | 60206479 | A | ATATATAT others(289): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0292 | 1 | 365 | 0.0027 | 296 | c.484 others(311): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767748 | G | GGGGGCGC others(289): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 320 | 0.0031 | 296 | c.159 others(313): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588815 | A | ACATATAT others(289): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0159 | 1 | 316 | 0.0032 | 296 | c.394 others(311): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1154549 | C | CACCCACT others(289): Show |
upstream_gene_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0098 | 1 | 222 | 0.0045 | 296 | c.-34 others(307): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 3403 | chr11 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGATGGT others(289): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0304 | 1 | 4 | 0.2500 | 296 | c.160 others(313): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGCGGT others(289): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0164 | 1 | 4 | 0.2500 | 296 | c.160 others(313): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGC others(289): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0277 | 1 | 4 | 0.2500 | 296 | c.160 others(313): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(289): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG01074.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0029 a0001c0001t0002g0097 a0001c0001t0002g0109 others(16): Show |
19 | 22 | 0.8636 | 296 | c.160 others(313): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(289): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 4 | 0.2500 | 296 | c.160 others(313): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
NDUFC1_chr4_139284931_139307477 | 139289120 | A | AAGACTCC others(289): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0048 others(13): Show |
23 | 362 | 0.0635 | 296 | c.*99 others(305): Show |
NDUFC1 | ENSG00000109390.13 | transcript | ENST00000394223.2 | protein_coding | 810 | chr4 | TogoVar | |||||||
NDUFC1_chr4_139284931_139307477 | 139289120 | A | AAGACTCC others(289): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 HG01975.hp2 HG02523.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0049 |
5 | 344 | 0.0145 | 296 | c.*99 others(305): Show |
NDUFC1 | ENSG00000109390.13 | transcript | ENST00000394223.2 | protein_coding | 810 | chr4 | TogoVar | |||||||
NEK7_chr1_198151998_198327420 | 198274158 | T | TTCTAGTT others(289): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 253 | 0.0040 | 296 | c.373 others(313): Show |
NEK7 | ENSG00000151414.15 | transcript | ENST00000367385.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NEK7_chr1_198151998_198327420 | 198274158 | T | TTCTAGTT others(289): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01081.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 a0001c0001t0001g0277 a0001c0001t0001g0282 others(16): Show |
19 | 271 | 0.0701 | 296 | c.373 others(313): Show |
NEK7 | ENSG00000151414.15 | transcript | ENST00000367385.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8678155 | A | ATCCATCC others(289): Show |
3_prime_UTR_variant | MODIFIER | HG02717.hp1 NA19030.hp2 |
a0010 | a0010c0009 | a0010c0009t0121a0010c0009t0122 | a0010c0009t0121g0365 a0010c0009t0122g0136 |
2 | 359 | 0.0056 | 296 | c.*55 others(305): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 556 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8678159 | A | ATCCATCC others(289): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0057a0001c0001t0103 | a0001c0001t0057g0127 a0001c0001t0103g0068 |
2 | 358 | 0.0056 | 296 | c.*55 others(305): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 556 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NINL_chr20_25447697_25590531 | 25469053 | A | AACTCTCA others(289): Show |
intron_variant | MODIFIER | HG01978.hp2 HG01981.hp1 HG02155.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 others(2): Show |
5 | 286 | 0.0175 | 296 | c.335 others(313): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 18/23 | chr20 | TogoVar | |||||||
NLE1_chr17_35123730_35147303 | 35133653 | C | CCCAGACC others(289): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00609.hp1 others(31): Show |
a0003a0009 | a0003c0003a0009c0011 | a0003c0003t0003a0003c0003t0012a0009c0011t0003 | a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0014 others(7): Show |
34 | 398 | 0.0854 | 296 | c.121 others(313): Show |
NLE1 | ENSG00000073536.18 | transcript | ENST00000442241.9 | protein_coding | 10/12 | chr17 | TogoVar | |||||||
NPM1_chr5_171382849_171415900 | 171397712 | T | TTCTTAAA others(289): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0091 |
2 | 400 | 0.0050 | 296 | c.525 others(313): Show |
NPM1 | ENSG00000181163.14 | transcript | ENST00000296930.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50221597 | A | AAAGTTCT others(289): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0020 | 1 | 115 | 0.0087 | 296 | c.354 others(317): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(289): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 1 | 30 | 0.0333 | 296 | c.433 others(313): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NTN5_chr19_48656407_48678017 | 48669543 | C | CCACCACC others(289): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0020 |
2 | 365 | 0.0055 | 296 | c.631 others(311): Show |
NTN5 | ENSG00000142233.14 | transcript | ENST00000270235.11 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
NUDCD1_chr8_109235919_109339087 | 109337068 | T | TCATTTAA others(289): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 313 | 0.0032 | 296 | c.-30 others(307): Show |
NUDCD1 | ENSG00000120526.12 | transcript | ENST00000239690.9 | protein_coding | 2982 | chr8 | TogoVar | |||||||
OBI1_chr13_78609289_78664155 | 78659327 | A | AGAAAGAA others(289): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 240 | 0.0042 | 296 | c.-20 others(305): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 173 | chr13 | TogoVar | |||||||
ODAD3_chr19_11415605_11440121 | 11425019 | A | ATACCTAT others(289): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 353 | 0.0028 | 296 | c.964 others(311): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 7/12 | chr19 | TogoVar | |||||||
OR2T12_chr1_248285139_248308424 | 248306453 | C | CCCTGAGG others(289): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02809.hp2 |
a0005 | a0005c0004 | a0005c0004t0011 | a0005c0004t0011g0017 | 2 | 401 | 0.0050 | 296 | c.-32 others(307): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3030 | chr1 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950631 | G | GCGCATAC others(289): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0237 | 1 | 118 | 0.0085 | 296 | c.-27 others(307): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2608 | chr16 | TogoVar | |||||||
OSTF1_chr9_75083514_75152265 | 75139054 | C | CTTTCTTT others(289): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18990.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0009g0044 |
3 | 321 | 0.0093 | 296 | c.487 others(313): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75139054 | C | CTTTCTTT others(289): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0031 | 1 | 319 | 0.0031 | 296 | c.487 others(313): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75139054 | C | CTTTCTTT others(289): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0026 | 1 | 319 | 0.0031 | 296 | c.487 others(313): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75139054 | C | CTTTCTTT others(289): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0245 | 1 | 319 | 0.0031 | 296 | c.487 others(313): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75139054 | C | CTTTCTTT others(289): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0034 | 1 | 319 | 0.0031 | 296 | c.487 others(313): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75139054 | C | CTTTCTTT others(289): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0033 | 1 | 319 | 0.0031 | 296 | c.487 others(313): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77332345 | G | GGGGAAGG others(289): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 278 | 0.0036 | 296 | c.155 others(313): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77332351 | A | AGGGAAGG others(289): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 62 | 0.0161 | 296 | c.155 others(313): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(289): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0190 | 1 | 68 | 0.0147 | 296 | c.226 others(315): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(289): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 NA18954.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 323 | 0.0093 | 296 | c.-26 others(307): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(289): Show |
upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 321 | 0.0031 | 296 | c.-26 others(307): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842892 | A | AGATAGAT others(289): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 433 | 0.0023 | 296 | c.-27 others(307): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2238 | chr20 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76280866 | T | TAAAAAAG others(289): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01346.hp2 others(10): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0004a0003c0005others(8): Show | a0001c0001t0035a0001c0001t0056a0001c0004t0001others(10): Show | a0001c0001t0035g0104 a0001c0001t0056g0027 a0001c0004t0001g0021 others(10): Show |
13 | 147 | 0.0884 | 296 | c.314 others(317): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10806648 | A | AAGAAAGA others(289): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0212 | 1 | 228 | 0.0044 | 296 | c.20- others(311): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PEBP1_chr12_118131124_118150584 | 118133227 | A | ATTTCATT others(289): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 372 | 0.0027 | 296 | c.-29 others(307): Show |
PEBP1 | ENSG00000089220.5 | transcript | ENST00000261313.3 | protein_coding | 2896 | chr12 | TogoVar | |||||||
PGC_chr6_41731711_41752397 | 41738238 | G | GCGTATAT others(289): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 444 | 0.0023 | 296 | c.916 others(311): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
PIR_chrX_15379799_15498333 | 15433684 | A | AAAGAAGG others(289): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 270 | 0.0037 | 296 | c.481 others(313): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 5/9 | chrX | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8661993 | T | TAATTATT others(289): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02683.hp1 |
a0001a0006 | a0001c0004a0006c0020 | a0001c0004t0005a0006c0020t0004 | a0001c0004t0005g0057 a0006c0020t0004g0071 |
2 | 99 | 0.0202 | 296 | c.862 others(313): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8661993 | T | TAATTATT others(289): Show |
intron_variant | MODIFIER | HG01517.hp2 NA19088.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0005 | a0001c0003t0001g0083 a0001c0003t0005g0048 |
2 | 99 | 0.0202 | 296 | c.862 others(313): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36275948 | T | TTTTCTTT others(289): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0368 | 1 | 366 | 0.0027 | 296 | c.205 others(313): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131958499 | C | CCTGTCTC others(289): Show |
3_prime_UTR_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0191 | 1 | 392 | 0.0026 | 296 | c.*25 others(307): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 9/9 | 2538 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRUNE2_chr9_76606376_76911114 | 76716027 | A | AAAGAAGA others(289): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0005 | a0005c0027 | a0005c0027t0003 | a0005c0027t0003g0212 | 1 | 227 | 0.0044 | 296 | c.757 others(313): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar |