view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3857): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 402 | 0.0025 | 3864 | c.*22 others(3875): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3857): Show |
downstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 402 | 0.0025 | 3864 | c.*22 others(3875): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3858): Show |
upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 420 | 0.0024 | 3865 | c.-73 others(3874): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3859): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 402 | 0.0025 | 3866 | c.*22 others(3877): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3860): Show |
upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0023 | 1 | 420 | 0.0024 | 3867 | c.-73 others(3876): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3860): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0191 | 1 | 236 | 0.0042 | 3867 | c.294 others(3884): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3861): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 NA18950.hp1 NA18957.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 5 | 420 | 0.0119 | 3868 | c.-73 others(3877): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328267 | A | AAACACCC others(3861): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0019 | a0019c0019 | a0019c0019t0001 | a0019c0019t0001g0022 | 1 | 82 | 0.0122 | 3868 | c.199 others(3887): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502701 | C | CGAGGGGG others(3861): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0094 | 1 | 188 | 0.0053 | 3868 | c.147 others(3885): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3861): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0121 | 1 | 214 | 0.0047 | 3868 | c.206 others(3887): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3861): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 NA18950.hp1 NA18957.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 5 | 402 | 0.0124 | 3868 | c.*22 others(3879): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3862): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0004 | a0004c0092 | a0004c0092t0001 | a0004c0092t0001g0107 | 1 | 186 | 0.0054 | 3869 | c.723 others(3886): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
C22orf39_chr22_19435886_19452711 | 19448418 | T | TACCTTAT others(3863): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 420 | 0.0024 | 3870 | c.-73 others(3879): Show |
C22orf39 | ENSG00000242259.9 | transcript | ENST00000399562.9 | protein_coding | 708 | chr22 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953875 | A | ACACCCAC others(3863): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 294 | 0.0034 | 3870 | c.503 others(3885): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3863): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 251 | 0.0040 | 3870 | c.-45 others(3879): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3863): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0131 | 1 | 214 | 0.0047 | 3870 | c.206 others(3889): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
UFD1_chr22_19444911_19484193 | 19448418 | T | TACCTTAT others(3863): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 402 | 0.0025 | 3870 | c.*22 others(3881): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1492 | chr22 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3866): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0094 | 1 | 214 | 0.0047 | 3873 | c.206 others(3892): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158136560 | T | TAGAGGTA others(3867): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0005 | a0003c0005t0013 | a0003c0005t0013g0043 | 1 | 276 | 0.0036 | 3874 | c.320 others(3893): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158136560 | T | TAGAGGTA others(3867): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 276 | 0.0036 | 3874 | c.320 others(3893): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158136560 | T | TAGAGGTA others(3867): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0001 | 1 | 276 | 0.0036 | 3874 | c.320 others(3893): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158136560 | T | TAGAGGTA others(3868): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 276 | 0.0036 | 3875 | c.320 others(3894): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105239455 | T | CGTGGCAC others(3869): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 72 | 0.0139 | 3876 | c.694 others(3893): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3869): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0045 | 1 | 282 | 0.0036 | 3876 | c.299 others(3891): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158136560 | T | TAGAGGTA others(3869): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0005 | 2 | 276 | 0.0073 | 3876 | c.320 others(3895): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3870): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0075 | 1 | 423 | 0.0024 | 3877 | c.*19 others(3888): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3870): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0081 | a0081c0058 | a0081c0058t0001 | a0081c0058t0001g0036 | 1 | 186 | 0.0054 | 3877 | c.723 others(3894): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LYRM1_chr16_20895771_20930006 | 20913744 | T | TAAAACTG others(3873): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 382 | 0.0026 | 3880 | c.1-1 others(3893): Show |
LYRM1 | ENSG00000102897.10 | transcript | ENST00000567954.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3873): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0030 | 1 | 128 | 0.0078 | 3880 | c.765 others(3899): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3874): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0018 | 1 | 128 | 0.0078 | 3881 | c.765 others(3900): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3874): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 128 | 0.0078 | 3881 | c.765 others(3900): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953875 | A | ACACCCAC others(3875): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0067 | a0001c0067t0001 | a0001c0067t0001g0056 | 1 | 294 | 0.0034 | 3882 | c.503 others(3897): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3875): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0015 | a0003c0015t0004 | a0003c0015t0004g0073 | 1 | 128 | 0.0078 | 3882 | c.765 others(3901): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3875): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0040 | 1 | 128 | 0.0078 | 3882 | c.765 others(3901): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3876): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 334 | 0.0030 | 3883 | c.147 others(3900): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3876): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0037 | 1 | 128 | 0.0078 | 3883 | c.765 others(3902): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3877): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19060.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0193a0001c0003t0002g0205 | 2 | 268 | 0.0075 | 3884 | c.137 others(3901): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3877): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0011 | a0011c0036 | a0011c0036t0007 | a0011c0036t0007g0116 | 1 | 128 | 0.0078 | 3884 | c.765 others(3903): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3877): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0026 | a0002c0026t0004 | a0002c0026t0004g0035 | 1 | 128 | 0.0078 | 3884 | c.765 others(3903): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3877): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18951.hp1 |
a0002a0017 | a0002c0035a0017c0032 | a0002c0035t0007a0017c0032t0018 | a0002c0035t0007g0092a0017c0032t0018g0049 | 2 | 128 | 0.0156 | 3884 | c.765 others(3903): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(3878): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0008 | 1 | 268 | 0.0037 | 3885 | c.62+ others(3898): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG02735.hp2 | a0113 | a0113c0158 | a0113c0158t0001 | a0113c0158t0001g0241 | 1 | 342 | 0.0029 | 3885 | c.728 others(3894): Show |
p.Thr others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7345/16366 | 7287/16008 | 2429/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG00738.hp2 | a0099 | a0099c0148 | a0099c0148t0001 | a0099c0148t0001g0242 | 1 | 342 | 0.0029 | 3885 | c.726 others(3894): Show |
p.Ala others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG04228.hp1 | a0114 | a0114c0161 | a0114c0161t0001 | a0114c0161t0001g0243 | 1 | 342 | 0.0029 | 3885 | c.726 others(3894): Show |
p.Ala others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp2 | a0108 | a0108c0149 | a0108c0149t0001 | a0108c0149t0001g0216 | 1 | 342 | 0.0029 | 3885 | c.726 others(3894): Show |
p.Ala others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 | a0103 | a0103c0150 | a0103c0150t0001 | a0103c0150t0001g0165 | 1 | 342 | 0.0029 | 3885 | c.726 others(3894): Show |
p.Ala others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG02602.hp2 | a0139 | a0139c0167 | a0139c0167t0002 | a0139c0167t0002g0222 | 1 | 342 | 0.0029 | 3885 | c.726 others(3894): Show |
p.Ala others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG02135.hp2 | a0173 | a0173c0134 | a0173c0134t0001 | a0173c0134t0001g0209 | 1 | 342 | 0.0029 | 3885 | c.726 others(3894): Show |
p.Ala others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(19): Show |
a0021a0022a0023others(16): Show | a0021c0022a0022c0025a0023c0024others(16): Show | a0021c0022t0001a0022c0025t0001a0023c0024t0001others(16): Show | a0021c0022t0001g0283a0021c0022t0001g0284a0022c0025t0001g0223others(19): Show | 22 | 342 | 0.0643 | 3885 | c.726 others(3894): Show |
p.Ala others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG03927.hp2 | a0110 | a0110c0163 | a0110c0163t0001 | a0110c0163t0001g0225 | 1 | 342 | 0.0029 | 3885 | c.726 others(3894): Show |
p.Ala others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |