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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF7_chr13_111110310_111310732 | 111221356 | T | TATATATC others(885): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0260 | 1 | 274 | 0.0037 | 892 | c.670 others(909): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ARHGEF7_chr13_111110310_111310732 | 111221356 | T | TATATATC others(885): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0259 | 1 | 274 | 0.0037 | 892 | c.670 others(909): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1626799 | G | GGGTGGAT others(885): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0070 | 1 | 223 | 0.0045 | 892 | c.375 others(907): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(885): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 391 | 0.0026 | 892 | c.*36 others(903): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(885): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 391 | 0.0026 | 892 | c.*36 others(903): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93685841 | G | GAGAGATT others(885): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02080.hp2 NA19005.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0255a0001c0001t0001g0256others(3): Show | 7 | 354 | 0.0198 | 892 | c.111 others(911): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 9/29 | chr11 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(885): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0195a0001c0002t0002g0196 | 2 | 264 | 0.0076 | 892 | c.181 others(911): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1198193 | C | CAGGACAC others(885): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 NA18906.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0005a0002c0004t0001 | a0001c0002t0005g0081a0002c0004t0001g0082a0002c0004t0001g0091 | 3 | 167 | 0.0180 | 892 | c.646 others(907): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88713126 | T | TGAGAGCC others(885): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 418 | 0.0024 | 892 | c.738 others(907): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(885): Show |
downstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 240 | 0.0042 | 892 | c.*31 others(903): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | ||||||
DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(885): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 367 | 0.0027 | 892 | c.-42 others(903): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(885): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 80 | 0.0125 | 892 | c.159 others(913): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(885): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0038 | 1 | 80 | 0.0125 | 892 | c.159 others(913): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(885): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 418 | 0.0024 | 892 | c.119 others(911): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180635721 | A | AAGTATGG others(885): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02965.hp2 HG02970.hp2 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0002c0012others(1): Show | a0001c0001t0002a0002c0003t0001a0002c0003t0007others(2): Show | a0001c0001t0002g0371a0001c0001t0002g0372a0002c0003t0001g0317others(3): Show | 6 | 388 | 0.0155 | 892 | c.59- others(907): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132242051 | A | ATTACACA others(885): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0097 | 1 | 183 | 0.0055 | 892 | c.107 others(911): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(885): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0015 | a0015c0022 | a0015c0022t0004 | a0015c0022t0004g0103 | 1 | 155 | 0.0065 | 892 | c.487 others(907): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 322499 | A | AAAAAAAA others(885): Show |
upstream_gene_variant | MODIFIER | NA19055.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0088 | 1 | 155 | 0.0065 | 892 | c.-37 others(903): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3704 | chrX | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406452 | A | AGTCTTCC others(885): Show |
3_prime_UTR_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0076 | 1 | 276 | 0.0036 | 892 | c.*38 others(901): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 381 | chr2 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(885): Show |
intron_variant | MODIFIER | HG01943.hp2 NA18747.hp1 NA18939.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244a0001c0001t0001g0251a0001c0001t0001g0252others(2): Show | 5 | 312 | 0.0160 | 892 | c.-41 others(907): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(885): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp1 |
a0062a0063 | a0062c0037a0063c0038 | a0062c0037t0001a0063c0038t0001 | a0062c0037t0001g0172a0063c0038t0001g0171 | 2 | 186 | 0.0108 | 892 | c.956 others(909): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(885): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0227 | 1 | 284 | 0.0035 | 892 | c.126 others(909): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055104 | T | TGCATAGA others(885): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0077 | 1 | 236 | 0.0042 | 892 | c.193 others(911): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859094 | G | GGACGGGT others(885): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0055 | 1 | 294 | 0.0034 | 892 | c.153 others(911): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256713 | A | AGTCACAT others(885): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 1 | 422 | 0.0024 | 892 | c.-30 others(903): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2973 | chr1 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53284196 | T | TACTTACC others(885): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 | 1 | 296 | 0.0034 | 892 | c.368 others(909): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(885): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0052 | 1 | 290 | 0.0035 | 892 | c.129 others(911): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(885): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0269 | 1 | 290 | 0.0035 | 892 | c.129 others(909): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(885): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG03195.hp1 others(1): Show |
a0012a0019 | a0012c0022a0019c0026 | a0012c0022t0001a0019c0026t0001 | a0012c0022t0001g0041a0019c0026t0001g0266a0019c0026t0001g0267 | 4 | 364 | 0.0110 | 892 | c.52+ others(905): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(885): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03139.hp1 HG03471.hp1 others(1): Show |
a0001a0002a0011 | a0001c0001a0002c0003a0011c0021 | a0001c0001t0001a0001c0001t0003a0002c0003t0024others(1): Show | a0001c0001t0001g0074a0001c0001t0003g0180a0002c0003t0024g0077others(1): Show | 4 | 276 | 0.0145 | 892 | c.100 others(911): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(885): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG03195.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0053others(2): Show | a0001c0001t0001g0107a0001c0001t0001g0127a0001c0001t0002g0044others(3): Show | 6 | 276 | 0.0217 | 892 | c.100 others(911): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(885): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 272 | 0.0037 | 892 | c.250 others(907): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926754 | G | GAAGGAGG others(885): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 272 | 0.0037 | 892 | c.250 others(907): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(885): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 330 | 0.0030 | 892 | c.-5+ others(907): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439230 | C | CAGAGGGA others(885): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0001 | a0002c0001t0080 | a0002c0001t0080g0232 | 1 | 234 | 0.0043 | 892 | c.816 others(909): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(885): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 356 | 0.0028 | 892 | c.91+ others(905): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(885): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0236 | 1 | 324 | 0.0031 | 892 | c.141 others(909): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(885): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0015 | 1 | 326 | 0.0031 | 892 | c.433 others(909): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01256.hp1 HG01943.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0164a0001c0001t0001g0295others(6): Show | 9 | 332 | 0.0271 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03453.hp1 NA19030.hp1 |
a0001 | a0001c0002a0001c0007a0001c0016 | a0001c0002t0019a0001c0007t0019a0001c0016t0030 | a0001c0002t0019g0111a0001c0007t0019g0207a0001c0016t0030g0085 | 3 | 332 | 0.0090 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0243 | 1 | 332 | 0.0030 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02257.hp1 HG02723.hp2 others(2): Show |
a0001a0005 | a0001c0005a0001c0019a0005c0029 | a0001c0005t0009a0001c0005t0067a0001c0005t0078others(2): Show | a0001c0005t0009g0075a0001c0005t0067g0084a0001c0005t0078g0093others(2): Show | 5 | 332 | 0.0151 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(62): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0048others(62): Show | 65 | 332 | 0.1958 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0150a0001c0001t0014g0151 | 2 | 332 | 0.0060 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(885): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 332 | 0.0030 | 892 | c.274 others(909): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(885): Show |
intron_variant | MODIFIER | NA18993.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104a0001c0001t0001g0105 | 2 | 300 | 0.0067 | 892 | c.117 others(909): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(885): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0108 | 2 | 300 | 0.0067 | 892 | c.117 others(909): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(885): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 312 | 0.0032 | 892 | c.306 others(911): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(885): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 312 | 0.0032 | 892 | c.306 others(911): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(885): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0176 | 1 | 312 | 0.0032 | 892 | c.306 others(911): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |