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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CTU2_chr16_88701503_88720396 | 88712921 | C | CCCCCTTC others(1087): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0148 | 1 | 252 | 0.0040 | 1094 | c.737 others(1107): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88713210 | T | TGAGAGCC others(1087): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0054 | 1 | 339 | 0.0029 | 1094 | c.738 others(1107): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132149203 | G | GGTGAGTG others(1087): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 332 | 0.0030 | 1094 | c.-49 others(1105): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4885 | chr12 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478086 | G | GGGGAAAA others(1087): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0006 | 1 | 82 | 0.0122 | 1094 | c.158 others(1111): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIRAS1_chr19_2709567_2726372 | 2713405 | T | TCACCTCC others(1087): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0075 | 1 | 366 | 0.0027 | 1094 | c.*38 others(1105): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1161 | chr19 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557403 | T | TATATATT others(1087): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 347 | 0.0029 | 1094 | c.94- others(1107): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161579 | G | GACCCCTG others(1087): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 274 | 0.0036 | 1094 | c.-43 others(1103): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 371 | chr11 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1087): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 337 | 0.0030 | 1094 | c.-29 others(1105): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(1087): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 44 | 0.0227 | 1094 | c.133 others(1113): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(1087): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0235 | 1 | 4 | 0.2500 | 1094 | c.160 others(1111): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132149203 | G | GGTGAGTG others(1087): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0154 | 1 | 292 | 0.0034 | 1094 | c.901 others(1109): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1087): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 393 | 0.0025 | 1094 | c.*31 others(1105): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1087): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0041 |
2 | 394 | 0.0051 | 1094 | c.*31 others(1105): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88712921 | C | CCCCCTTC others(1087): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0025 | a0025c0037 | a0025c0037t0012 | a0025c0037t0012g0269 | 1 | 182 | 0.0055 | 1094 | c.*26 others(1105): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2416 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88713210 | T | TGAGAGCC others(1087): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0038 | 1 | 222 | 0.0045 | 1094 | c.*23 others(1105): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2127 | chr16 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1087): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0101 | 1 | 2 | 0.5000 | 1094 | c.234 others(1115): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1087): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(91): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0008 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(19): Show | a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 others(91): Show |
94 | 95 | 0.9895 | 1094 | c.234 others(1115): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1087): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(158): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(158): Show |
161 | 162 | 0.9938 | 1094 | c.234 others(1115): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1087): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0165 | 1 | 2 | 0.5000 | 1094 | c.234 others(1115): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1087): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02818.hp1 |
a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0084 a0002c0003t0015g0085 |
2 | 3 | 0.6667 | 1094 | c.234 others(1115): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937759 | C | CGATCTCA others(1087): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 272 | 0.0037 | 1094 | c.234 others(1115): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1087): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0204 | 1 | 2 | 0.5000 | 1094 | c.438 others(1111): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1087): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01975.hp2 HG02004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0153 a0001c0001t0001g0283 a0001c0001t0001g0284 others(1): Show |
4 | 198 | 0.0202 | 1094 | c.347 others(1109): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1087): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02132.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0156 a0001c0001t0002g0004 |
3 | 197 | 0.0152 | 1094 | c.347 others(1109): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1087): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01261.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0039 others(8): Show |
15 | 209 | 0.0718 | 1094 | c.347 others(1109): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1087): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 195 | 0.0051 | 1094 | c.347 others(1109): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1087): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 195 | 0.0051 | 1094 | c.347 others(1109): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1087): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0298 | 1 | 100 | 0.0100 | 1094 | c.45- others(1109): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(1087): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 2 | 353 | 0.0057 | 1094 | c.*32 others(1105): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1087): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 28 | 0.0357 | 1094 | c.113 others(1113): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1291460 | C | CAGGGACA others(1087): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 273 | 0.0037 | 1094 | c.157 others(1113): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161579 | G | GACCCCTG others(1087): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 294 | 0.0034 | 1094 | c.*26 others(1105): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2349 | chr11 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1087): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 103 | 0.0097 | 1094 | c.749 others(1109): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1087): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0326 | 1 | 277 | 0.0036 | 1094 | c.129 others(1111): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675038 | T | TCCTGCCT others(1087): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0252 | 1 | 155 | 0.0065 | 1094 | c.483 others(1109): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1088): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 154 | 0.0065 | 1095 | c.170 others(1116): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1088): Show |
intron_variant | MODIFIER | HG00140.hp2 HG03491.hp1 HG03492.hp1 others(3): Show |
a0006a0009a0063 | a0006c0007a0006c0019a0009c0020others(1): Show | a0006c0007t0001a0006c0019t0001a0009c0020t0001others(1): Show | a0006c0007t0001g0302 a0006c0007t0001g0322 a0006c0007t0001g0323 others(3): Show |
6 | 159 | 0.0377 | 1095 | c.170 others(1116): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 915088 | A | AAGGGTGG others(1088): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0011 | 1 | 9 | 0.1111 | 1095 | c.388 others(1112): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 915088 | A | AAGGGTGG others(1088): Show |
intron_variant | MODIFIER | HG01993.hp2 HG03654.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 |
3 | 11 | 0.2727 | 1095 | c.388 others(1112): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1088): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0088 | 1 | 3 | 0.3333 | 1095 | c.787 others(1110): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1088): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 2 | 0.5000 | 1095 | c.276 others(1114): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1088): Show |
intron_variant | MODIFIER | NA18993.hp1 NA19065.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 a0001c0002t0001g0082 |
2 | 11 | 0.1818 | 1095 | c.327 others(1112): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58798137 | T | TAAGAAAT others(1088): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0179 a0002c0003t0001g0184 |
2 | 191 | 0.0105 | 1095 | c.223 others(1114): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | ATAATATA others(1088): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0012 | a0001c0012t0006 | a0001c0012t0006g0009 | 1 | 177 | 0.0056 | 1095 | c.342 others(1116): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648362 | A | AGACCCAG others(1088): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 276 | 0.0036 | 1095 | c.252 others(1110): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647631 | T | TCCCCCTC others(1088): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0130 | 1 | 265 | 0.0038 | 1095 | c.*54 others(1106): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2287 | chr15 | TogoVar | |||||||
CTU2_chr16_88701503_88720396 | 88712921 | C | CCCCCTTC others(1088): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0149 | 1 | 252 | 0.0040 | 1095 | c.737 others(1108): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1088): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0089 | a0089c0084 | a0089c0084t0001 | a0089c0084t0001g0177 | 1 | 98 | 0.0102 | 1095 | c.118 others(1114): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1088): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0043 | a0043c0069 | a0043c0069t0001 | a0043c0069t0001g0018 | 1 | 98 | 0.0102 | 1095 | c.118 others(1114): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355693 | G | GGAGGAAG others(1088): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0019 | a0019c0033 | a0019c0033t0001 | a0019c0033t0001g0017 | 1 | 78 | 0.0128 | 1095 | c.757 others(1110): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar |