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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PON3_chr7_95354872_95401375 | 95371278 | T | TGGATAGG others(1003): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0056 | 1 | 372 | 0.0027 | 1010 | c.367 others(1025): Show |
PON3 | ENSG00000105852.11 | transcript | ENST00000265627.10 | protein_coding | 4/8 | chr7 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(1003): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 67 | 0.0149 | 1010 | c.159 others(1027): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(1003): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 67 | 0.0149 | 1010 | c.159 others(1027): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(1003): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 324 | 0.0031 | 1010 | c.115 others(1027): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608626 | T | TATAGCAT others(1003): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0096 | 1 | 218 | 0.0046 | 1010 | c.323 others(1029): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870330 | A | ACCCTACA others(1003): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0306 | 1 | 338 | 0.0030 | 1010 | c.*35 others(1029): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
VCX2_chrX_8164944_8176267 | 8169690 | C | CCCTCCCT others(1003): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 | 1 | 115 | 0.0087 | 1010 | c.*34 others(1019): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 253 | chrX | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(1003): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 314 | 0.0032 | 1010 | c.97+ others(1025): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZNF85_chr19_20918251_20955697 | 20919187 | A | ATATACAA others(1003): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0242 | 1 | 383 | 0.0026 | 1010 | c.-42 others(1021): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4063 | chr19 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1004): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0011 | a0001c0011t0019 | a0001c0011t0019g0272 | 1 | 318 | 0.0031 | 1011 | c.285 others(1030): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(1004): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 391 | 0.0026 | 1011 | c.*36 others(1022): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411304 | T | TCTGCTGG others(1004): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0004 | 1 | 322 | 0.0031 | 1011 | c.-23 others(1022): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2158 | chr19 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGGCCC others(1004): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 398 | 0.0025 | 1011 | c.666 others(1026): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803232 | A | AGCCCTCT others(1004): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 398 | 0.0025 | 1011 | c.666 others(1026): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803282 | T | TGGGGGCC others(1004): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 398 | 0.0025 | 1011 | c.666 others(1026): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(1004): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0261 | 1 | 288 | 0.0035 | 1011 | c.672 others(1026): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(1004): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 288 | 0.0035 | 1011 | c.672 others(1026): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(1004): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 288 | 0.0035 | 1011 | c.672 others(1026): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(1004): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007a0001c0002t0001g0079a0001c0002t0001g0123 | 3 | 288 | 0.0104 | 1011 | c.672 others(1026): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(1004): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 288 | 0.0035 | 1011 | c.672 others(1026): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(1004): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01361.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0080a0001c0001t0001g0178others(4): Show | 8 | 288 | 0.0278 | 1011 | c.672 others(1026): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110481920 | G | GTGCTGGA others(1004): Show |
intron_variant | MODIFIER | NA18955.hp1 NA19086.hp1 |
a0001a0006 | a0001c0002a0006c0027 | a0001c0002t0004a0006c0027t0012 | a0001c0002t0004g0292a0006c0027t0012g0281 | 2 | 372 | 0.0054 | 1011 | c.275 others(1028): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240923662 | T | TCCCCACA others(1004): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0253 | 1 | 350 | 0.0029 | 1011 | c.488 others(1028): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CUX2_chr12_111029165_111355554 | 111325930 | T | TTGGGGGA others(1004): Show |
intron_variant | MODIFIER | HG02698.hp2 HG06807.hp2 NA20905.hp2 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0053a0002c0006t0001g0084a0002c0006t0001g0089 | 3 | 100 | 0.0300 | 1011 | c.292 others(1030): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1164157 | C | CCCCCCAG others(1004): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | 1011 | c.74- others(1028): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400737 | C | CCACCACC others(1004): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0067 | a0001c0067t0001 | a0001c0067t0001g0006 | 1 | 256 | 0.0039 | 1011 | c.323 others(1030): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99927960 | G | GTGGTGGT others(1004): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0048 | 1 | 288 | 0.0035 | 1011 | c.190 others(1030): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1004): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0246 | 1 | 292 | 0.0034 | 1011 | c.228 others(1028): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1004): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0053 | 1 | 369 | 0.0027 | 1011 | c.-49 others(1022): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379233 | T | TGCCTGGG others(1004): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00741.hp1 others(22): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(10): Show | a0001c0001t0001g0010a0002c0002t0001g0028a0002c0002t0001g0030others(22): Show | 25 | 82 | 0.3049 | 1011 | c.120 others(1028): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379233 | T | TGCCTGGG others(1004): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0056 | 1 | 82 | 0.0122 | 1011 | c.120 others(1028): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379233 | T | TGCCTGGG others(1004): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0068 | 1 | 82 | 0.0122 | 1011 | c.120 others(1028): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379233 | T | TGCCTGGG others(1004): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 82 | 0.0122 | 1011 | c.120 others(1028): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379233 | T | TGCCTGGG others(1004): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 82 | 0.0122 | 1011 | c.120 others(1028): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379244 | G | GAGGGGAA others(1004): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 82 | 0.0122 | 1011 | c.120 others(1028): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252992 | C | CCACCACC others(1004): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0309 | 1 | 366 | 0.0027 | 1011 | c.666 others(1028): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1004): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063a0001c0001t0001g0183 | 2 | 388 | 0.0052 | 1011 | c.105 others(1028): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(1004): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0113a0001c0001t0004g0233 | 2 | 274 | 0.0073 | 1011 | c.804 others(1028): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(1004): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 274 | 0.0037 | 1011 | c.804 others(1028): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1004): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 204 | 0.0049 | 1011 | c.978 others(1028): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1004): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 312 | 0.0032 | 1011 | c.-41 others(1026): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIRREL3_chr11_126418358_127005770 | 126799454 | C | CTGTGTGC others(1004): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0060 | 1 | 114 | 0.0088 | 1011 | c.55+ others(1030): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1004): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0097 | 1 | 318 | 0.0031 | 1011 | c.-49 others(1022): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFSD8_chr4_127912805_127970173 | 127926315 | A | ATCCAGGC others(1004): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02451.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0087a0002c0002t0003g0088a0002c0002t0003g0089others(8): Show | 11 | 354 | 0.0311 | 1011 | c.999 others(1028): Show |
MFSD8 | ENSG00000164073.11 | transcript | ENST00000641686.2 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
MFSD8_chr4_127912805_127970173 | 127926315 | A | ATCCAGGC others(1004): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0342 | 1 | 354 | 0.0028 | 1011 | c.999 others(1028): Show |
MFSD8 | ENSG00000164073.11 | transcript | ENST00000641686.2 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
MFSD8_chr4_127912805_127970173 | 127926315 | A | ATCCAGGC others(1004): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0001c0001t0001g0110a0002c0002t0002g0001a0002c0002t0002g0002others(62): Show | 69 | 354 | 0.1949 | 1011 | c.999 others(1028): Show |
MFSD8 | ENSG00000164073.11 | transcript | ENST00000641686.2 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(1004): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 272 | 0.0037 | 1011 | c.250 others(1026): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MUC6_chr11_1007823_1041718 | 1017240 | G | GTGTGACT others(1004): Show |
conservative_inframe_insertion | MODERATE | HG01243.hp2 NA19240.hp2 |
a0049 | a0049c0046 | a0049c0046t0001 | a0049c0046t0001g0105a0049c0046t0001g0106 | 2 | 406 | 0.0049 | 1011 | c.556 others(1020): Show |
p.His others(1026): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 5623/8016 | 5560/7320 | 1854/2439 | chr11 | TogoVar | ||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(1004): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 426 | 0.0024 | 1011 | c.273 others(1026): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(1004): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 426 | 0.0024 | 1011 | c.273 others(1026): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar |