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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGBD2_chr1_248901235_248924146 | 248911386 | C | CAACCCTG others(5573): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03139.hp1 HG03209.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0190 a0001c0001t0001g0194 others(3): Show |
7 | 422 | 0.0166 | 5580 | c.-47 others(5597): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911386 | C | CAACCCTG others(5573): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 422 | 0.0024 | 5580 | c.-47 others(5597): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911386 | C | CAACCCTG others(5573): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 422 | 0.0024 | 5580 | c.-47 others(5597): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 286 | 0.0035 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02647.hp2 HG02965.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 |
3 | 286 | 0.0105 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02451.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 others(4): Show |
7 | 286 | 0.0245 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0173 | 1 | 286 | 0.0035 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0079 |
2 | 286 | 0.0070 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 286 | 0.0035 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00609.hp1 others(79): Show |
a0001a0004a0010others(1): Show | a0001c0001a0001c0018a0001c0019others(7): Show | a0001c0001t0001a0001c0018t0001a0001c0019t0001others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(79): Show |
82 | 286 | 0.2867 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 286 | 0.0035 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 286 | 0.0035 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01346.hp1 others(3): Show |
a0004a0007 | a0004c0005a0007c0012 | a0004c0005t0001a0007c0012t0001 | a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 others(3): Show |
6 | 286 | 0.0210 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0080 |
2 | 286 | 0.0070 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0004 | a0004c0025 | a0004c0025t0001 | a0004c0025t0001g0161 | 1 | 286 | 0.0035 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5574): Show |
intron_variant | MODIFIER | NA18969.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0029 |
2 | 286 | 0.0070 | 5581 | c.723 others(5598): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5574): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 286 | 0.0035 | 5581 | c.723 others(5598): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5574): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02602.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0128 a0004c0005t0001g0171 |
2 | 286 | 0.0070 | 5581 | c.723 others(5598): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5575): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 286 | 0.0035 | 5582 | c.723 others(5599): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5576): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 286 | 0.0035 | 5583 | c.723 others(5600): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(5578): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0009 | 1 | 318 | 0.0031 | 5585 | c.225 others(5602): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111807 | A | AGGCACCT others(5579): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 368 | 0.0027 | 5586 | c.401 others(5603): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5579): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0277 | 1 | 318 | 0.0031 | 5586 | c.225 others(5603): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5579): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0291 | 1 | 318 | 0.0031 | 5586 | c.225 others(5603): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(5579): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0233 | 1 | 318 | 0.0031 | 5586 | c.225 others(5603): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5581): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03041.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 a0001c0001t0003g0054 a0001c0001t0003g0055 others(2): Show |
6 | 422 | 0.0142 | 5588 | c.-47 others(5605): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5582): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 422 | 0.0024 | 5589 | c.-47 others(5606): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5585): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0109 | 1 | 370 | 0.0027 | 5592 | c.891 others(5607): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5586): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 370 | 0.0027 | 5593 | c.891 others(5608): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5586): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03209.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 |
3 | 422 | 0.0071 | 5593 | c.-47 others(5610): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5587): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 422 | 0.0024 | 5594 | c.-47 others(5611): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5587): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 422 | 0.0024 | 5594 | c.-47 others(5611): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5587): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 a0001c0001t0001g0216 |
2 | 422 | 0.0047 | 5594 | c.-47 others(5611): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(5587): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 190 | 0.0053 | 5594 | c.719 others(5613): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5588): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 422 | 0.0024 | 5595 | c.-47 others(5612): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGAGGGAC others(5589): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 133 | 0.0075 | 5596 | c.351 others(5615): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35585876 | G | GAAGAAAA others(5597): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0359 | 1 | 372 | 0.0027 | 5604 | c.-15 others(5615): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1445 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35585876 | G | GAAGAAAA others(5597): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0362 | 1 | 372 | 0.0027 | 5604 | c.-15 others(5615): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1445 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35585876 | G | GAAGAAAA others(5598): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0358 | 1 | 372 | 0.0027 | 5605 | c.-15 others(5616): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1445 | chr17 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693729 | A | ACCACCAC others(5598): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 296 | 0.0034 | 5605 | c.*67 others(5616): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4917 | chr20 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(5598): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0210 | 1 | 308 | 0.0033 | 5605 | c.157 others(5622): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693729 | A | ACCACCAC others(5598): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 60 | 0.0167 | 5605 | c.299 others(5622): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35585876 | G | GAAGAAAA others(5599): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0360 | 1 | 372 | 0.0027 | 5606 | c.-15 others(5617): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1445 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35585876 | G | GAAGAAAA others(5600): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0361 | 1 | 372 | 0.0027 | 5607 | c.-15 others(5618): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1445 | chr17 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156471927 | A | AGACAGTG others(5601): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 150 | 0.0067 | 5608 | c.193 others(5627): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTTCCTTC others(5602): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 80 | 0.0125 | 5609 | c.125 others(5626): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156471927 | A | AGACAGTG others(5602): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0017 | a0001c0004t0001g0009 a0001c0004t0017g0007 |
2 | 150 | 0.0133 | 5609 | c.193 others(5628): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5603): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0020 | 1 | 318 | 0.0031 | 5610 | c.225 others(5627): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5603): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0020 | 1 | 104 | 0.0096 | 5610 | c.477 others(5631): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(5603): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 328 | 0.0031 | 5610 | c.225 others(5627): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar |