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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1037): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 HG04115.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0008 | a0001c0003t0002g0111a0001c0003t0008g0112 | 2 | 318 | 0.0063 | 1044 | c.-49 others(1055): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(1037): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0122 | 1 | 278 | 0.0036 | 1044 | c.115 others(1061): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17876998 | G | GAGGGAGG others(1037): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 274 | 0.0037 | 1044 | c.224 others(1063): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877211 | G | GGTTAGGG others(1037): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0162 | 1 | 274 | 0.0037 | 1044 | c.224 others(1063): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(1037): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19081.hp2 |
a0004a0142 | a0004c0004a0142c0074 | a0004c0004t0001a0142c0074t0001 | a0004c0004t0001g0093a0142c0074t0001g0096 | 2 | 249 | 0.0080 | 1044 | c.148 others(1063): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(1037): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 NA18971.hp1 NA18971.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0027others(1): Show | 6 | 402 | 0.0149 | 1044 | c.-40 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(1037): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 402 | 0.0025 | 1044 | c.-40 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(1037): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG02129.hp2 NA18951.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0083a0001c0001t0001g0085a0001c0001t0002g0002others(6): Show | 13 | 402 | 0.0323 | 1044 | c.-40 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(1037): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0086 | 1 | 402 | 0.0025 | 1044 | c.-40 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050087 | C | CGCCTGTC others(1037): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 402 | 0.0025 | 1044 | c.-40 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3911 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050200 | G | GTCCCTAC others(1037): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 2 | 402 | 0.0050 | 1044 | c.-42 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4024 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050200 | G | GTCCCTAC others(1037): Show |
upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 402 | 0.0025 | 1044 | c.-42 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4024 | chr9 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(1037): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0218 | 1 | 326 | 0.0031 | 1044 | c.433 others(1061): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1037): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 1044 | c.*31 others(1055): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1037): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 456 | 0.0022 | 1044 | c.*31 others(1055): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(1037): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0004 | a0004c0136 | a0004c0136t0001 | a0004c0136t0001g0257 | 1 | 268 | 0.0037 | 1044 | c.292 others(1059): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHKA1_chrX_72573814_72719306 | 72681736 | C | CCGCCCAG others(1037): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 237 | 0.0042 | 1044 | c.537 others(1061): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1037): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0247 | 1 | 334 | 0.0030 | 1044 | c.45- others(1059): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322971 | T | TTATATTA others(1037): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 | 1 | 160 | 0.0063 | 1044 | c.389 others(1065): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744325 | C | CCCTGGTT others(1037): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0023 | a0001c0023t0002 | a0001c0023t0002g0049 | 1 | 196 | 0.0051 | 1044 | c.655 others(1061): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744403 | C | CTACTAGC others(1037): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0058 | a0001c0058t0004 | a0001c0058t0004g0156 | 1 | 196 | 0.0051 | 1044 | c.655 others(1061): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744475 | T | TTGCTAGC others(1037): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0086 | a0001c0086t0004 | a0001c0086t0004g0172 | 1 | 196 | 0.0051 | 1044 | c.655 others(1061): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(1037): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0337 | 1 | 376 | 0.0027 | 1044 | c.101 others(1063): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431965 | G | GACAGGGT others(1037): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0288 | 1 | 376 | 0.0027 | 1044 | c.101 others(1063): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(1037): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0258 | 1 | 376 | 0.0027 | 1044 | c.101 others(1061): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTACC others(1037): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0112 | 1 | 420 | 0.0024 | 1044 | c.107 others(1061): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(1037): Show |
downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0019 | 1 | 422 | 0.0024 | 1044 | c.*64 others(1055): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(1037): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 1044 | c.*28 others(1055): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1037): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 2 | 394 | 0.0051 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1037): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 394 | 0.0025 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1037): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG01106.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0006a0001c0001t0001g0022a0001c0001t0001g0102others(18): Show | 24 | 394 | 0.0609 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1037): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01952.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0023a0001c0001t0001g0091others(3): Show | 8 | 394 | 0.0203 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1037): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0290a0001c0001t0003g0291 | 2 | 394 | 0.0051 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1037): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 394 | 0.0025 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1037): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 394 | 0.0025 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1037): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 394 | 0.0025 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
USP2_chr11_119350215_119386690 | 119351506 | C | CTCCTCTC others(1037): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 202 | 0.0050 | 1044 | c.*53 others(1055): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3708 | chr11 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(1037): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 HG04115.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0003 | a0001c0002t0001g0056a0001c0004t0003g0109 | 2 | 202 | 0.0099 | 1044 | c.*53 others(1055): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
UVSSA_chr4_1342208_1393049 | 1372708 | A | AGCACTCA others(1037): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(23): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0001a0002c0001t0001 | a0001c0004t0001g0005a0001c0004t0001g0236a0001c0004t0001g0237others(20): Show | 26 | 400 | 0.0650 | 1044 | c.128 others(1063): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
UVSSA_chr4_1342208_1393049 | 1372708 | A | AGCACTCA others(1037): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0004 | a0001c0004t0044 | a0001c0004t0044g0238 | 1 | 400 | 0.0025 | 1044 | c.128 others(1063): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
UVSSA_chr4_1342208_1393049 | 1372720 | C | CTGCTACT others(1037): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0273 | 1 | 400 | 0.0025 | 1044 | c.128 others(1063): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF85_chr19_20918251_20955697 | 20919187 | A | ATATACAA others(1037): Show |
upstream_gene_variant | MODIFIER | NA19010.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0245 | 1 | 383 | 0.0026 | 1044 | c.-42 others(1055): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4063 | chr19 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1038): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0190 | 1 | 238 | 0.0042 | 1045 | c.787 others(1060): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1038): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02027.hp1 HG02135.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0180a0001c0001t0001g0187a0001c0001t0002g0082others(8): Show | 11 | 238 | 0.0462 | 1045 | c.787 others(1060): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1038): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 318 | 0.0031 | 1045 | c.285 others(1064): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185647 | G | GGCATGTG others(1038): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0009 | a0009c0116 | a0009c0116t0006 | a0009c0116t0006g0188 | 1 | 338 | 0.0030 | 1045 | c.300 others(1062): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | ATAATATA others(1038): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 236 | 0.0042 | 1045 | c.342 others(1066): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1038): Show |
intron_variant | MODIFIER | HG03492.hp1 HG03704.hp1 |
a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0106a0004c0002t0001g0143 | 2 | 278 | 0.0072 | 1045 | c.328 others(1062): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(1038): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0208 | 1 | 216 | 0.0046 | 1045 | c.923 others(1064): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1038): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 358 | 0.0028 | 1045 | c.236 others(1064): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar |