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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EHMT1_chr9_137614005_137841127 | 137721200 | A | ACCCCCTC others(3754): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0050 | 1 | 154 | 0.0065 | 3761 | c.642 others(3778): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CAGTGGGG others(3754): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0203 | 1 | 242 | 0.0041 | 3761 | c.157 others(3776): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432146 | A | AGAGGGTG others(3755): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0347 | 1 | 344 | 0.0029 | 3762 | c.101 others(3779): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3755): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0164 | 1 | 2 | 0.5000 | 3762 | c.111 others(3779): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
TAB1_chr22_39394780_39436882 | 39423757 | G | GTAGCATA others(3755): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0259 | 1 | 304 | 0.0033 | 3762 | c.921 others(3779): Show |
TAB1 | ENSG00000100324.14 | transcript | ENST00000216160.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAB1_chr22_39394780_39436882 | 39423757 | G | GTAGCATA others(3755): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0261 | 1 | 304 | 0.0033 | 3762 | c.921 others(3779): Show |
TAB1 | ENSG00000100324.14 | transcript | ENST00000216160.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAB1_chr22_39394780_39436882 | 39423832 | A | ATTGTAAG others(3755): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0262 | 1 | 303 | 0.0033 | 3762 | c.921 others(3779): Show |
TAB1 | ENSG00000100324.14 | transcript | ENST00000216160.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176945 | A | ATACATAT others(3756): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 329 | 0.0030 | 3763 | c.366 others(3780): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(3757): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0070 | a0001c0002t0070g0112 | 1 | 2 | 0.5000 | 3764 | c.438 others(3781): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414460 | G | GGGGAAGG others(3757): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0172 | 1 | 330 | 0.0030 | 3764 | c.115 others(3781): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99648886 | T | TTTGCATT others(3757): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0021 | a0021c0026 | a0021c0026t0003 | a0021c0026t0003g0126 | 1 | 132 | 0.0076 | 3764 | c.590 others(3783): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 34/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3758): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0163 | 1 | 7 | 0.1429 | 3765 | c.986 others(3784): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3759): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0109 | 1 | 7 | 0.1429 | 3766 | c.986 others(3785): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3759): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0158 | 1 | 7 | 0.1429 | 3766 | c.986 others(3785): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3760): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0076a0001c0002t0039 | a0001c0001t0076g0061 a0001c0002t0039g0028 |
2 | 8 | 0.2500 | 3767 | c.986 others(3786): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3760): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0183 a0001c0002t0015g0191 |
2 | 8 | 0.2500 | 3767 | c.986 others(3786): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3760): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0143 | 1 | 7 | 0.1429 | 3767 | c.986 others(3786): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3760): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01123.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0157 a0001c0001t0002g0164 a0001c0001t0004g0016 others(11): Show |
14 | 20 | 0.7000 | 3767 | c.986 others(3786): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3760): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(21): Show | a0001c0001t0001g0152 a0001c0001t0003g0124 a0001c0001t0023g0171 others(21): Show |
24 | 30 | 0.8000 | 3767 | c.986 others(3786): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3760): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0013 | 1 | 7 | 0.1429 | 3767 | c.986 others(3786): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3760): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02622.hp2 |
a0001 | a0001c0003 | a0001c0003t0099a0001c0003t0124 | a0001c0003t0099g0134 a0001c0003t0124g0181 |
2 | 8 | 0.2500 | 3767 | c.986 others(3786): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3760): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0088 | a0001c0001t0036g0026 a0001c0001t0088g0131 |
2 | 8 | 0.2500 | 3767 | c.986 others(3786): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78669892 | C | CAATAAAT others(3760): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0016 | 1 | 39 | 0.0256 | 3767 | c.419 others(3786): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
FAM171A1_chr10_15206643_15376289 | 15209429 | A | AGGATTAC others(3761): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0129 | 1 | 38 | 0.0263 | 3768 | c.*34 others(3779): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 2213 | chr10 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3761): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0003 | a0001c0003t0121 | a0001c0003t0121g0132 | 1 | 7 | 0.1429 | 3768 | c.986 others(3787): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3761): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0070a0001c0003t0098 | a0001c0001t0070g0065 a0001c0003t0098g0133 |
2 | 8 | 0.2500 | 3768 | c.986 others(3787): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3761): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0174 | 1 | 7 | 0.1429 | 3768 | c.986 others(3787): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3761): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0027 | 1 | 7 | 0.1429 | 3768 | c.986 others(3787): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3761): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0028a0001c0001t0029a0001c0002t0002others(2): Show | a0001c0001t0028g0002 a0001c0001t0029g0001 a0001c0002t0002g0084 others(2): Show |
5 | 11 | 0.4545 | 3768 | c.986 others(3787): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3762): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0192 | 1 | 64 | 0.0156 | 3769 | c.294 others(3786): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251133 | T | TCCCCCAC others(3762): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0108 | 1 | 14 | 0.0714 | 3769 | c.207 others(3788): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323694 | G | GTGTGTGT others(3762): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 143 | 0.0070 | 3769 | c.-49 others(3780): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4899 | chrX | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3762): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03139.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0020a0001c0001t0127a0001c0008t0079 | a0001c0001t0020g0147 a0001c0001t0127g0189 a0001c0008t0079g0175 |
3 | 9 | 0.3333 | 3769 | c.986 others(3788): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
SYT1_chr12_78859774_79457008 | 78944242 | G | GCCAATCC others(3762): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0051 | 1 | 49 | 0.0204 | 3769 | c.-21 others(3790): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3763): Show |
intron_variant | MODIFIER | HG02258.hp1 HG04228.hp1 NA18966.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0004t0001g0051 |
3 | 18 | 0.1667 | 3770 | c.164 others(3789): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3763): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 64 | 0.0156 | 3770 | c.294 others(3787): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3763): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 30 | 0.0333 | 3770 | c.*19 others(3781): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3763): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0091 | a0001c0001t0022g0117 a0001c0001t0091g0116 |
2 | 8 | 0.2500 | 3770 | c.986 others(3789): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78669892 | C | CAATAAAT others(3763): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 39 | 0.0256 | 3770 | c.419 others(3789): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3763): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0010 | a0010c0064 | a0010c0064t0001 | a0010c0064t0001g0105 | 1 | 34 | 0.0294 | 3770 | c.299 others(3785): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SYT1_chr12_78859774_79457008 | 78944242 | G | GCCAATCC others(3763): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02257.hp1 HG03225.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0058 a0001c0001t0004g0003 others(4): Show |
7 | 55 | 0.1273 | 3770 | c.-21 others(3791): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 78944242 | G | GCCAATCC others(3763): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0023 | 1 | 49 | 0.0204 | 3770 | c.-21 others(3791): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 78944242 | G | GCCAATCC others(3763): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 49 | 0.0204 | 3770 | c.-21 others(3791): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 78944242 | G | GCCAATCC others(3763): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 49 | 0.0204 | 3770 | c.-21 others(3791): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3764): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0003 | 1 | 64 | 0.0156 | 3771 | c.294 others(3788): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3764): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 3 | 0.3333 | 3771 | c.*14 others(3782): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
FAM171A1_chr10_15206643_15376289 | 15209429 | A | AGGATTAC others(3764): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01952.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0227 |
3 | 40 | 0.0750 | 3771 | c.*34 others(3782): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 2213 | chr10 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3764): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0130 | 1 | 7 | 0.1429 | 3771 | c.986 others(3790): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
MUC5B_chr11_1218066_1267172 | 1243636 | T | TTCCAGCC others(3764): Show |
disruptive_inframe_insertion | MODERATE | NA20129.hp2 | a0149 | a0149c0056 | a0149c0056t0001 | a0149c0056t0001g0173 | 1 | 347 | 0.0029 | 3771 | c.718 others(3780): Show |
p.Gly others(3786): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 7240/17911 | 7182/17289 | 2394/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
SYT1_chr12_78859774_79457008 | 78944242 | G | GCCAATCC others(3764): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 49 | 0.0204 | 3771 | c.-21 others(3792): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |