| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3235): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0042 | 1 | 292 | 0.0034 | 3242 | c.228 others(3259): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
| EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3235): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0041 | 1 | 292 | 0.0034 | 3242 | c.228 others(3259): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
| EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3235): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0046 | 1 | 292 | 0.0034 | 3242 | c.228 others(3259): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
| EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3235): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0292 | 1 | 369 | 0.0027 | 3242 | c.-50 others(3253): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
| EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3235): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0126 | 1 | 369 | 0.0027 | 3242 | c.-50 others(3253): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
| PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3235): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0089 | a0089c0062 | a0089c0062t0001 | a0089c0062t0001g0067 | 1 | 282 | 0.0036 | 3242 | c.299 others(3257): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
| PTGR1_chr9_111557567_111604647 | 111578316 | T | TTATTTCT others(3235): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0329 | 1 | 408 | 0.0025 | 3242 | c.651 others(3257): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
| THADA_chr2_43225851_43601038 | 43387547 | T | TGGTTGCT others(3235): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0018 | 1 | 206 | 0.0049 | 3242 | c.422 others(3263): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 29/37 | chr2 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 421864 | G | ACTTCTGT others(3236): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0006 | a0006c0006 | a0006c0006t0011 | a0006c0006t0011g0106 | 1 | 432 | 0.0023 | 3243 | c.413 others(3256): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | ||||||
| HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3236): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0182 | 1 | 268 | 0.0037 | 3243 | c.139 others(3264): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| UCKL1_chr20_63934829_63961416 | 63948597 | G | GGCGTGTG others(3236): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 356 | 0.0028 | 3243 | c.114 others(3260): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(3237): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 342 | 0.0029 | 3244 | c.366 others(3261): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
| CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3237): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 316 | 0.0032 | 3244 | c.44- others(3257): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3237): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 323 | 0.0031 | 3244 | c.-21 others(3255): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
| IQSEC3_chr12_61767_183455 | 163273 | C | CCCTCCAC others(3237): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0195 | 1 | 282 | 0.0036 | 3244 | c.258 others(3261): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ZBTB44_chr11_130221677_130319917 | 130301065 | T | TTAAAGAT others(3237): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 290 | 0.0035 | 3244 | c.-57 others(3263): Show |
ZBTB44 | ENSG00000196323.14 | transcript | ENST00000357899.9 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3238): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 334 | 0.0030 | 3245 | c.147 others(3262): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(3238): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0006 | a0006c0019 | a0006c0019t0001 | a0006c0019t0001g0044 | 1 | 344 | 0.0029 | 3245 | c.373 others(3262): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(3238): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 230 | 0.0044 | 3245 | c.724 others(3264): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
| EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3238): Show |
upstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0127 | 1 | 369 | 0.0027 | 3245 | c.-50 others(3256): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
| GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(3238): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 397 | 0.0025 | 3245 | c.*50 others(3256): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
| RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3238): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 276 | 0.0036 | 3245 | c.58- others(3262): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3238): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0086 | 1 | 276 | 0.0036 | 3245 | c.58- others(3262): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3239): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0045 | 1 | 292 | 0.0034 | 3246 | c.228 others(3263): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
| EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3239): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0048 | 1 | 292 | 0.0034 | 3246 | c.228 others(3263): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
| EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3239): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0003 | a0003c0001 | a0003c0001t0003 | a0003c0001t0003g0118 | 1 | 369 | 0.0027 | 3246 | c.-50 others(3257): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
| EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3239): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 | a0004 | a0004c0011 | a0004c0011t0002 | a0004c0011t0002g0102 | 1 | 369 | 0.0027 | 3246 | c.-50 others(3257): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
| EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3239): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0142 | 1 | 369 | 0.0027 | 3246 | c.-50 others(3257): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
| EVC_chr4_5706201_5819305 | 5706433 | G | GATAGATA others(3239): Show |
upstream_gene_variant | MODIFIER | NA19088.hp2 | a0047 | a0047c0065 | a0047c0065t0002 | a0047c0065t0002g0138 | 1 | 369 | 0.0027 | 3246 | c.-49 others(3257): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4767 | chr4 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3239): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 323 | 0.0031 | 3246 | c.-21 others(3257): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
| RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3239): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0163 | 1 | 276 | 0.0036 | 3246 | c.58- others(3263): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3239): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 276 | 0.0036 | 3246 | c.58- others(3263): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3239): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0030 | 1 | 276 | 0.0036 | 3246 | c.58- others(3263): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3239): Show |
intron_variant | MODIFIER | HG03654.hp2 HG03688.hp2 NA18947.hp2 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0016a0001c0002t0002a0001c0005t0001 | a0001c0001t0016g0091a0001c0002t0002g0035a0001c0005t0001g0104 | 3 | 276 | 0.0109 | 3246 | c.58- others(3263): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| ZBTB42_chr14_104796101_104809712 | 104806614 | A | ACCAGCAT others(3239): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 99 | 0.0101 | 3246 | c.*41 others(3257): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 1903 | chr14 | TogoVar | ||||||
| ZNF605_chr12_132913306_132961306 | 132954439 | T | TGGGGAGG others(3239): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0004 | 1 | 126 | 0.0079 | 3246 | c.-28 others(3265): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
| FOXK2_chr17_82514732_82609602 | 82586254 | C | CCGGGGGG others(3240): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0008 | 1 | 308 | 0.0033 | 3247 | c.157 others(3262): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MUC12_chr7_100964565_101023936 | 101004330 | G | GCCTGCCC others(3240): Show |
frameshift_variant others(1): Show |
HIGH | NA18989.hp2 | a0061 | a0061c0255 | a0061c0255t0001 | a0061c0255t0001g0045 | 1 | 342 | 0.0029 | 3247 | c.137 others(3258): Show |
p.Arg others(6): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13833/16366 | 13775/16008 | 4592/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3240): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0123 | 1 | 276 | 0.0036 | 3247 | c.58- others(3264): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCTC others(3241): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 296 | 0.0034 | 3248 | c.*67 others(3259): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | ||||||
| ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3242): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0016 | a0016c0019 | a0016c0019t0018 | a0016c0019t0018g0177 | 1 | 318 | 0.0031 | 3249 | c.813 others(3266): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
| MUC12_chr7_100964565_101023936 | 100991683 | C | CCTGAAAG others(3242): Show |
conservative_inframe_insertion | MODERATE | NA20905.hp2 | a0052 | a0052c0269 | a0052c0269t0001 | a0052c0269t0001g0105 | 1 | 342 | 0.0029 | 3249 | c.112 others(3258): Show |
p.Ser others(3262): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 1187/16366 | 1129/16008 | 377/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 101004330 | G | GCCTGCCC others(3242): Show |
disruptive_inframe_insertion | MODERATE | HG01884.hp1 HG01952.hp2 HG02615.hp1 others(3): Show |
a0014a0058a0067others(2): Show | a0014c0036a0058c0259a0067c0249others(2): Show | a0014c0036t0001a0058c0259t0001a0067c0249t0001others(2): Show | a0014c0036t0001g0006a0014c0036t0001g0027a0058c0259t0001g0064others(3): Show | 6 | 342 | 0.0175 | 3249 | c.137 others(3260): Show |
p.Ala others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13833/16366 | 13775/16008 | 4592/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 101004330 | G | GCCTGCCC others(3242): Show |
disruptive_inframe_insertion | MODERATE | HG01192.hp1 | a0079 | a0079c0237 | a0079c0237t0001 | a0079c0237t0001g0041 | 1 | 342 | 0.0029 | 3249 | c.137 others(3260): Show |
p.Ala others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13833/16366 | 13775/16008 | 4592/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 101004330 | G | GCCTGCCC others(3242): Show |
disruptive_inframe_insertion | MODERATE | HG00558.hp2 HG01099.hp1 HG01123.hp2 others(27): Show |
a0002a0003a0006others(11): Show | a0002c0004a0002c0007a0002c0245others(15): Show | a0002c0004t0001a0002c0007t0001a0002c0245t0001others(16): Show | a0002c0004t0001g0001a0002c0004t0001g0046a0002c0004t0001g0054others(25): Show | 30 | 342 | 0.0877 | 3249 | c.137 others(3260): Show |
p.Ala others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13833/16366 | 13775/16008 | 4592/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 101004330 | G | GCCTGCCC others(3242): Show |
disruptive_inframe_insertion | MODERATE | NA19081.hp2 | a0003 | a0003c0261 | a0003c0261t0001 | a0003c0261t0001g0001 | 1 | 342 | 0.0029 | 3249 | c.137 others(3260): Show |
p.Ala others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13833/16366 | 13775/16008 | 4592/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 101004330 | G | GCCTGCCC others(3242): Show |
disruptive_inframe_insertion | MODERATE | HG01952.hp1 | a0054 | a0054c0266 | a0054c0266t0001 | a0054c0266t0001g0001 | 1 | 342 | 0.0029 | 3249 | c.137 others(3260): Show |
p.Ala others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13833/16366 | 13775/16008 | 4592/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(3242): Show |
conservative_inframe_insertion | MODERATE | HG00673.hp2 HG01175.hp1 HG02056.hp2 others(7): Show |
a0008a0012a0043others(4): Show | a0008c0028a0008c0205a0012c0040others(5): Show | a0008c0028t0001a0008c0205t0001a0012c0040t0001others(5): Show | a0008c0028t0001g0169a0008c0028t0001g0184a0008c0205t0001g0234others(6): Show | 10 | 342 | 0.0292 | 3249 | c.138 others(3260): Show |
p.Thr others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(3242): Show |
conservative_inframe_insertion | MODERATE | HG03225.hp2 | a0170 | a0170c0137 | a0170c0137t0001 | a0170c0137t0001g0035 | 1 | 342 | 0.0029 | 3249 | c.138 others(3260): Show |
p.Thr others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(3242): Show |
conservative_inframe_insertion | MODERATE | HG02451.hp1 HG02486.hp1 HG02886.hp1 others(1): Show |
a0028a0142a0143 | a0028c0030a0142c0194a0143c0195 | a0028c0030t0001a0142c0194t0001a0143c0195t0001 | a0028c0030t0001g0157a0028c0030t0001g0257a0142c0194t0001g0256others(1): Show | 4 | 342 | 0.0117 | 3249 | c.138 others(3260): Show |
p.Thr others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |