| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3657): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 271 | 0.0037 | 3664 | c.174 others(3683): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3657): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 271 | 0.0037 | 3664 | c.174 others(3683): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| FMN2_chr1_240086883_240480187 | 240184949 | C | CCCCTTCT others(3657): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0021 | a0021c0021 | a0021c0021t0001 | a0021c0021t0001g0116 | 1 | 174 | 0.0058 | 3664 | c.193 others(3683): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PDSS2_chr6_107147562_107464564 | 107220144 | T | TTATGGTA others(3657): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 260 | 0.0039 | 3664 | c.703 others(3681): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3657): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03225.hp2 |
a0006 | a0006c0011 | a0006c0011t0005 | a0006c0011t0005g0059a0006c0011t0005g0063 | 2 | 212 | 0.0094 | 3664 | c.111 others(3681): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3657): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG03579.hp1 others(2): Show |
a0001a0002 | a0001c0007a0001c0023a0002c0024 | a0001c0007t0002a0001c0007t0006a0001c0023t0007others(1): Show | a0001c0007t0002g0080a0001c0007t0006g0037a0001c0007t0006g0055others(2): Show | 5 | 212 | 0.0236 | 3664 | c.111 others(3681): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| TRPM2_chr21_44348621_44447644 | 44419564 | G | GTGGTGGT others(3657): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0007 | a0007c0013 | a0007c0013t0003 | a0007c0013t0003g0004 | 1 | 44 | 0.0227 | 3664 | c.346 others(3683): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(3658): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0041 | 1 | 178 | 0.0056 | 3665 | c.773 others(3680): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3659): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0147 | 1 | 271 | 0.0037 | 3666 | c.174 others(3685): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3659): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 271 | 0.0037 | 3666 | c.174 others(3685): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3659): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01243.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0157a0001c0001t0001g0158 | 3 | 271 | 0.0111 | 3666 | c.174 others(3685): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3659): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0039 | 1 | 271 | 0.0037 | 3666 | c.174 others(3685): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3659): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0211a0001c0005t0002g0213 | 2 | 271 | 0.0074 | 3666 | c.174 others(3685): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3659): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 175 | 0.0057 | 3666 | c.164 others(3685): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3659): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0009 | a0009c0036 | a0009c0036t0001 | a0009c0036t0001g0237 | 1 | 282 | 0.0036 | 3666 | c.299 others(3681): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
| THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(3659): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03017.hp2 HG03491.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0289a0001c0002t0001g0298a0001c0002t0001g0299others(4): Show | 7 | 390 | 0.0180 | 3666 | c.161 others(3685): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
| BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(3660): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03486.hp2 |
a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0069a0002c0002t0014g0070 | 2 | 390 | 0.0051 | 3667 | c.109 others(3682): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3660): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 | 1 | 271 | 0.0037 | 3667 | c.174 others(3686): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3660): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 271 | 0.0037 | 3667 | c.174 others(3686): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3660): Show |
intron_variant | MODIFIER | NA18961.hp2 NA19005.hp1 NA19058.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0225a0002c0003t0001g0037a0002c0003t0001g0050 | 3 | 271 | 0.0111 | 3667 | c.174 others(3686): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3660): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02129.hp2 HG02165.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0030a0001c0001t0001g0109a0001c0001t0001g0172others(5): Show | 8 | 271 | 0.0295 | 3667 | c.174 others(3686): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3660): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03239.hp2 HG04199.hp2 |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0001a0001c0002t0002a0006c0008t0001 | a0001c0001t0001g0028a0001c0002t0002g0240a0006c0008t0001g0047 | 3 | 271 | 0.0111 | 3667 | c.174 others(3686): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3660): Show |
intron_variant | MODIFIER | HG04228.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0155a0001c0001t0002g0064 | 2 | 271 | 0.0074 | 3667 | c.174 others(3686): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3660): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 271 | 0.0037 | 3667 | c.174 others(3686): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3661): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0199 | 2 | 271 | 0.0074 | 3668 | c.174 others(3687): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3661): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 271 | 0.0037 | 3668 | c.174 others(3687): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3661): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18747.hp1 NA18972.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0072a0001c0001t0001g0090others(3): Show | 6 | 271 | 0.0221 | 3668 | c.174 others(3687): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3661): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 271 | 0.0037 | 3668 | c.174 others(3687): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3661): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0137 | 1 | 271 | 0.0037 | 3668 | c.174 others(3687): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| GMEB2_chr20_63582605_63632101 | 63609451 | C | CCACCTCC others(3661): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0038 | 1 | 330 | 0.0030 | 3668 | c.132 others(3685): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 953826 | T | TGTCCACA others(3661): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0060 | 1 | 294 | 0.0034 | 3668 | c.503 others(3683): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCAC others(3662): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 296 | 0.0034 | 3669 | c.*67 others(3680): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3662): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0230 | 2 | 271 | 0.0074 | 3669 | c.174 others(3688): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| SDK1_chr7_3296252_4274000 | 3977129 | A | AGGGTCCC others(3662): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0038 | a0001c0038t0013 | a0001c0038t0013g0038 | 1 | 116 | 0.0086 | 3669 | c.199 others(3688): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(3663): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0261 | 1 | 390 | 0.0026 | 3670 | c.109 others(3685): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3663): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 271 | 0.0037 | 3670 | c.174 others(3689): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3664): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18961.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0046a0001c0002t0002g0166 | 2 | 271 | 0.0074 | 3671 | c.174 others(3690): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3664): Show |
intron_variant | MODIFIER | HG03195.hp1 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0255a0001c0002t0002g0120 | 2 | 271 | 0.0074 | 3671 | c.174 others(3690): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105240876 | G | GCAGCCCC others(3665): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 72 | 0.0139 | 3672 | c.694 others(3687): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3666): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 271 | 0.0037 | 3673 | c.174 others(3692): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3666): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 423 | 0.0024 | 3673 | c.*19 others(3684): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1273421 | C | CGCCATCC others(3666): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0169 | 1 | 392 | 0.0026 | 3673 | c.228 others(3692): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| VCX2_chrX_8164944_8176267 | 8169856 | T | TCTTCCTC others(3666): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0005 | a0005c0011 | a0005c0011t0004 | a0005c0011t0004g0016 | 1 | 115 | 0.0087 | 3673 | c.*17 others(3682): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 87 | chrX | TogoVar | ||||||
| ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(3666): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0040 | 1 | 126 | 0.0079 | 3673 | c.-28 others(3692): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3668): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18973.hp1 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0077a0001c0001t0001g0091 | 3 | 271 | 0.0111 | 3675 | c.174 others(3694): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3668): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 271 | 0.0037 | 3675 | c.174 others(3694): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3668): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 236 | 0.0042 | 3675 | c.294 others(3692): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3669): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0147 | 1 | 236 | 0.0042 | 3676 | c.294 others(3693): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3669): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02818.hp2 HG02922.hp1 |
a0001a0008 | a0001c0001a0008c0021 | a0001c0001t0002a0001c0001t0007a0008c0021t0002 | a0001c0001t0002g0101a0001c0001t0007g0041a0008c0021t0002g0032 | 3 | 212 | 0.0142 | 3676 | c.111 others(3693): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(3669): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0200 | 1 | 356 | 0.0028 | 3676 | c.114 others(3693): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar |