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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM255B_chr13_113754226_113821995 | 113816252 | G | GGGGAGAC others(451): Show |
3_prime_UTR_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0155 | 1 | 260 | 0.0039 | 458 | c.*43 others(469): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 4355 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM255B_chr13_113754226_113821995 | 113816252 | G | GGGGAGAC others(451): Show |
3_prime_UTR_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0022 | 1 | 260 | 0.0039 | 458 | c.*43 others(469): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 4355 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM255B_chr13_113754226_113821995 | 113816252 | G | GGGGAGAC others(451): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00609.hp1 others(42): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(23): Show | a0001c0001t0003g0016 a0001c0001t0003g0055 a0001c0001t0003g0145 others(41): Show |
45 | 260 | 0.1731 | 458 | c.*43 others(469): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 4355 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM255B_chr13_113754226_113821995 | 113816252 | G | GGGGAGAC others(451): Show |
3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG01928.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0010 | a0001c0001t0077a0001c0002t0007a0001c0002t0008others(14): Show | a0001c0001t0077g0190 a0001c0002t0007g0114 a0001c0002t0007g0123 others(23): Show |
26 | 260 | 0.1000 | 458 | c.*43 others(469): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 4355 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM255B_chr13_113754226_113821995 | 113816252 | G | GGGGAGAC others(451): Show |
3_prime_UTR_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0171 | a0001c0001t0171g0205 | 1 | 260 | 0.0039 | 458 | c.*43 others(469): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 4355 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM255B_chr13_113754226_113821995 | 113816252 | G | GGGGAGAC others(451): Show |
3_prime_UTR_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0164 | a0001c0001t0164g0056 | 1 | 260 | 0.0039 | 458 | c.*43 others(469): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 4355 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM88B_chr1_1420871_1435255 | 1428023 | G | GGAGGGGA others(451): Show |
3_prime_UTR_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0003 | 1 | 4 | 0.2500 | 458 | c.*24 others(467): Show |
TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 2/2 | 248 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TMPRSS9_chr19_2355265_2431261 | 2377643 | C | CCCCTCCC others(451): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0054 | 1 | 114 | 0.0088 | 458 | c.-25 others(477): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507507 | G | GTATTATA others(451): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0060 | 1 | 388 | 0.0026 | 458 | c.-23 others(475): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(451): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 272 | 0.0037 | 458 | c.*29 others(469): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
TRPC4AP_chr20_34997404_35097807 | 35097565 | A | ATGTGTGT others(451): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 334 | 0.0030 | 458 | c.-47 others(469): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4759 | chr20 | TogoVar | |||||||
TSPAN9_chr12_3072379_3291559 | 3198746 | C | CCAGCACA others(451): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0121 | 1 | 288 | 0.0035 | 458 | c.-17 others(475): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7844325 | T | TGGTGTGT others(451): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 NA19082.hp1 |
a0015 | a0015c0017 | a0015c0017t0002 | a0015c0017t0002g0001 | 2 | 341 | 0.0059 | 458 | c.*30 others(467): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 183 | chrX | TogoVar | |||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(451): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03225.hp2 HG03540.hp2 others(2): Show |
a0003 | a0003c0007a0003c0023 | a0003c0007t0014a0003c0007t0024a0003c0023t0034 | a0003c0007t0014g0006 a0003c0007t0014g0007 a0003c0007t0014g0008 others(2): Show |
5 | 246 | 0.0203 | 458 | c.53- others(471): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114253202 | C | CCTCCCCC others(451): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 246 | 0.0041 | 458 | c.53- others(471): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675052 | T | TCCCTCCC others(451): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 326 | 0.0031 | 458 | c.483 others(473): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(451): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0066 | 1 | 326 | 0.0031 | 458 | c.483 others(473): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZFPM2_chr8_105313438_105809539 | 105380859 | A | AATATATA others(451): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02273.hp2 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0003 | a0001c0001t0001g0014 a0006c0010t0003g0013 |
2 | 92 | 0.0217 | 458 | c.41- others(475): Show |
ZFPM2 | ENSG00000169946.14 | transcript | ENST00000407775.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF705A_chr12_8152015_8185046 | 8184239 | C | CGGCCAGC others(451): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG03139.hp2 NA20129.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0165 a0002c0001t0002g0177 a0002c0001t0002g0192 |
3 | 420 | 0.0071 | 458 | c.*66 others(469): Show |
ZNF705A | ENSG00000196946.11 | transcript | ENST00000396570.8 | protein_coding | 4194 | chr12 | TogoVar | |||||||
ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(451): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 400 | 0.0025 | 458 | c.532 others(473): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172199 | G | GATGGATA others(452): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 357 | 0.0028 | 459 | c.278 others(478): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATATAAA others(452): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 459 | c.-10 others(470): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATATAAA others(452): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 459 | c.-10 others(470): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATATAAA others(452): Show |
upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 459 | c.-10 others(470): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831105 | G | GAGCAGGA others(452): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0064 | 1 | 80 | 0.0125 | 459 | c.667 others(478): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ARHGAP24_chr4_85470150_86007666 | 85686796 | T | TAAAAAAT others(452): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 |
2 | 108 | 0.0185 | 459 | c.181 others(478): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687687 | A | ACCCCCGT others(452): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 | 1 | 246 | 0.0041 | 459 | c.-20 others(470): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1842 | chr8 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1825143 | T | TTCACCTG others(452): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0033 | a0002c0033t0002 | a0002c0033t0002g0006 | 1 | 363 | 0.0028 | 459 | c.-48 others(476): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | chr8 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200733 | C | CAGGGTCA others(452): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0006 | a0006c0012 | a0006c0012t0003 | a0006c0012t0003g0203 | 1 | 298 | 0.0034 | 459 | c.955 others(476): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | chr18 | TogoVar | |||||||
BMP8A_chr1_39486636_39534869 | 39504340 | C | CGAGGGGG others(452): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0014a0001c0021others(15): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0017others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(169): Show |
229 | 362 | 0.6326 | 459 | c.335 others(476): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMP8A_chr1_39486636_39534869 | 39504452 | G | GATGTGCA others(452): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01070.hp2 others(12): Show |
a0001a0006a0021 | a0001c0001a0006c0005a0021c0026 | a0001c0001t0001a0006c0005t0001a0021c0026t0001 | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0048 others(9): Show |
15 | 362 | 0.0414 | 459 | c.335 others(476): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMP8A_chr1_39486636_39534869 | 39504616 | C | CCTCCACA others(452): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0135 | 1 | 362 | 0.0028 | 459 | c.335 others(476): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMP8A_chr1_39486636_39534869 | 39504841 | G | GGTCAGCA others(452): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 362 | 0.0028 | 459 | c.335 others(476): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241570575 | G | GGGAGGGA others(452): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0119 | 1 | 434 | 0.0023 | 459 | c.513 others(474): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185638 | C | CGAGTAGA others(452): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0055 | a0002c0055t0001 | a0002c0055t0001g0215 | 1 | 338 | 0.0030 | 459 | c.300 others(476): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(452): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0010 | a0001c0001t0011g0009 a0001c0002t0010g0079 |
2 | 214 | 0.0094 | 459 | c.565 others(476): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255234 | T | TTATATAT others(452): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 330 | 0.0030 | 459 | c.907 others(474): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181785 | A | ACACTCAC others(452): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02155.hp2 HG02523.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0390 a0001c0001t0002g0058 a0001c0001t0002g0067 others(4): Show |
7 | 460 | 0.0152 | 459 | c.193 others(476): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182166 | T | TCACACAC others(452): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 460 | 0.0022 | 459 | c.193 others(476): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71420464 | A | ATGATGGT others(452): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02559.hp1 others(9): Show |
a0001a0025a0028others(9): Show | a0001c0079a0025c0140a0028c0097others(9): Show | a0001c0079t0011a0025c0140t0008a0028c0097t0007others(9): Show | a0001c0079t0011g0032 a0025c0140t0008g0002 a0028c0097t0007g0186 others(9): Show |
12 | 196 | 0.0612 | 459 | c.-5- others(476): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 1/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71420464 | A | ATGATGGT others(452): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02257.hp1 HG02622.hp1 others(1): Show |
a0029a0056a0063others(1): Show | a0029c0148a0056c0160a0063c0166others(1): Show | a0029c0148t0003a0056c0160t0001a0063c0166t0001others(1): Show | a0029c0148t0003g0188 a0056c0160t0001g0141 a0063c0166t0001g0187 others(1): Show |
4 | 196 | 0.0204 | 459 | c.-5- others(476): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 1/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71420476 | A | ATGATGAT others(452): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0064 | a0064c0150 | a0064c0150t0001 | a0064c0150t0001g0175 | 1 | 196 | 0.0051 | 459 | c.-5- others(476): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 1/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71420476 | A | ATGATGAT others(452): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG01516.hp2 others(3): Show |
a0012a0025a0044others(2): Show | a0012c0019a0025c0145a0044c0143others(2): Show | a0012c0019t0009a0025c0145t0009a0044c0143t0009others(2): Show | a0012c0019t0009g0025 a0012c0019t0009g0026 a0025c0145t0009g0023 others(3): Show |
6 | 196 | 0.0306 | 459 | c.-5- others(476): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 1/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650104 | G | GTGAGGTG others(452): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 91 | 0.0110 | 459 | c.177 others(478): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132852263 | C | CCTCCATT others(452): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0029 | a0001c0029t0002 | a0001c0029t0002g0009 | 1 | 246 | 0.0041 | 459 | c.557 others(476): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132852279 | C | CATTCTCA others(452): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG01074.hp2 others(13): Show |
a0006a0024a0040others(4): Show | a0006c0004a0024c0017a0040c0087others(4): Show | a0006c0004t0002a0024c0017t0001a0040c0087t0003others(4): Show | a0006c0004t0002g0027 a0006c0004t0002g0106 a0006c0004t0002g0107 others(13): Show |
16 | 246 | 0.0650 | 459 | c.557 others(476): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132852325 | T | TTAAGAAT others(452): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0025 | 1 | 246 | 0.0041 | 459 | c.557 others(478): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132852325 | T | TTAAGAAT others(452): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0065 | a0065c0040 | a0065c0040t0001 | a0065c0040t0001g0174 | 1 | 246 | 0.0041 | 459 | c.557 others(478): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132852325 | T | TTAAGAAT others(452): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01952.hp2 HG01978.hp1 |
a0001a0007a0042 | a0001c0001a0007c0008a0042c0084 | a0001c0001t0002a0007c0008t0002a0042c0084t0002 | a0001c0001t0002g0070 a0007c0008t0002g0069 a0042c0084t0002g0053 |
3 | 246 | 0.0122 | 459 | c.557 others(478): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132852325 | T | TTAAGAAT others(452): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(88): Show |
a0001a0003a0005others(25): Show | a0001c0001a0001c0029a0001c0030others(39): Show | a0001c0001t0002a0001c0029t0002a0001c0030t0002others(39): Show | a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0002g0029 others(87): Show |
91 | 246 | 0.3699 | 459 | c.557 others(478): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar |