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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2616): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18949.hp1 NA18965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0048others(1): Show | a0001c0001t0003g0066 a0001c0001t0004g0027 a0001c0001t0048g0137 others(1): Show |
4 | 388 | 0.0103 | 2623 | c.114 others(2642): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2616): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 388 | 0.0026 | 2623 | c.114 others(2642): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(2616): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0013 | a0013c0020 | a0013c0020t0001 | a0013c0020t0001g0097 | 1 | 289 | 0.0035 | 2623 | c.228 others(2644): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGGC others(2616): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 373 | 0.0027 | 2623 | c.115 others(2640): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(2616): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0191 | 1 | 344 | 0.0029 | 2623 | c.218 others(2640): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714689 | T | TAACCACT others(2617): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 344 | 0.0029 | 2624 | c.127 others(2641): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2617): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 334 | 0.0030 | 2624 | c.147 others(2641): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68758757 | T | TTATTTTT others(2617): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0085 | 1 | 128 | 0.0078 | 2624 | c.140 others(2645): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68758757 | T | TTATTTTT others(2617): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01943.hp1 others(5): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0015 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0064 others(5): Show |
8 | 128 | 0.0625 | 2624 | c.140 others(2645): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68758757 | T | TTATTTTT others(2617): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0013 | 1 | 128 | 0.0078 | 2624 | c.140 others(2645): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293479 | A | AGCTCACC others(2617): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0087 | 1 | 284 | 0.0035 | 2624 | c.411 others(2641): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2617): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0095 | 1 | 388 | 0.0026 | 2624 | c.114 others(2643): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2617): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 388 | 0.0026 | 2624 | c.114 others(2643): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2617): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0076 | 1 | 388 | 0.0026 | 2624 | c.114 others(2643): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2617): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 | 1 | 388 | 0.0026 | 2624 | c.114 others(2643): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2617): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0077 | 1 | 388 | 0.0026 | 2624 | c.114 others(2643): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251046 | A | AACAACCC others(2617): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 116 | 0.0086 | 2624 | c.207 others(2643): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642833 | A | AAGGGACA others(2617): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 NA19011.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 a0001c0002t0001g0262 |
2 | 345 | 0.0058 | 2624 | c.*17 others(2635): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1399 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2617): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 345 | 0.0029 | 2624 | c.*17 others(2635): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2617): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0085 | 1 | 345 | 0.0029 | 2624 | c.*17 others(2635): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2617): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 345 | 0.0029 | 2624 | c.*17 others(2635): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2617): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 345 | 0.0029 | 2624 | c.*17 others(2635): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2617): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 345 | 0.0029 | 2624 | c.*17 others(2635): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642833 | A | AAGGGACA others(2617): Show |
downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 421 | 0.0024 | 2624 | c.*22 others(2635): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2128 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2617): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 2624 | c.*22 others(2635): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2617): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0045 |
2 | 421 | 0.0048 | 2624 | c.*22 others(2635): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2617): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0017 | a0017c0016 | a0017c0016t0001 | a0017c0016t0001g0001 | 2 | 421 | 0.0048 | 2624 | c.*22 others(2635): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2617): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 421 | 0.0024 | 2624 | c.*22 others(2635): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2617): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 421 | 0.0024 | 2624 | c.*22 others(2635): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2617): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0022 | a0022c0050 | a0022c0050t0002 | a0022c0050t0002g0001 | 1 | 421 | 0.0024 | 2624 | c.*22 others(2635): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CCGGGGGG others(2617): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0223 | 1 | 308 | 0.0033 | 2624 | c.157 others(2639): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(2617): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0123 | 1 | 290 | 0.0035 | 2624 | c.129 others(2643): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952186 | G | GGTCAGAG others(2617): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 242 | 0.0041 | 2624 | c.360 others(2643): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2617): Show |
intron_variant | MODIFIER | HG03471.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0039 a0001c0003t0003g0040 |
2 | 272 | 0.0074 | 2624 | c.-12 others(2645): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCG others(2617): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0005 | a0001c0005t0018 | a0001c0005t0018g0030 | 1 | 373 | 0.0027 | 2624 | c.115 others(2641): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453143 | T | TATATAAA others(2617): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 186 | 0.0054 | 2624 | c.-50 others(2635): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4995 | chr12 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453143 | T | TATATAAA others(2617): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 186 | 0.0054 | 2624 | c.-50 others(2635): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4995 | chr12 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2618): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0271 | 1 | 434 | 0.0023 | 2625 | c.16+ others(2640): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2618): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0260 | 1 | 434 | 0.0023 | 2625 | c.16+ others(2640): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2618): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0034 | 1 | 334 | 0.0030 | 2625 | c.147 others(2642): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68758757 | T | TTATTTTT others(2618): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 128 | 0.0078 | 2625 | c.140 others(2646): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68758757 | T | TTATTTTT others(2618): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01978.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0082 a0001c0001t0002g0025 a0001c0001t0002g0072 |
3 | 128 | 0.0234 | 2625 | c.140 others(2646): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68758757 | T | TTATTTTT others(2618): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 128 | 0.0078 | 2625 | c.140 others(2646): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2618): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0323 | 1 | 432 | 0.0023 | 2625 | c.414 others(2642): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2618): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0113 | 1 | 388 | 0.0026 | 2625 | c.114 others(2644): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2618): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0139 | a0001c0001t0139g0082 | 1 | 388 | 0.0026 | 2625 | c.114 others(2644): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2618): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0136 | 1 | 388 | 0.0026 | 2625 | c.114 others(2644): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2618): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0168 | 1 | 314 | 0.0032 | 2625 | c.-25 others(2642): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2618): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0003 | a0001c0003t0063 | a0001c0003t0063g0197 | 1 | 250 | 0.0040 | 2625 | c.-22 others(2644): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPIC_chr12_101470336_101491997 | 101484138 | A | AGAAAGCT others(2618): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 398 | 0.0025 | 2625 | c.319 others(2642): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |