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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(698): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0124 | 1 | 100 | 0.0100 | 705 | c.907 others(722): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(698): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(74): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0030 others(62): Show |
77 | 176 | 0.4375 | 705 | c.907 others(722): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(698): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0283 | 1 | 100 | 0.0100 | 705 | c.907 others(722): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(698): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 100 | 0.0100 | 705 | c.907 others(722): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGCATGAC others(698): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0169 | 1 | 210 | 0.0048 | 705 | c.227 others(722): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2106627 | C | CTTCAGCA others(698): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0196 | 1 | 210 | 0.0048 | 705 | c.335 others(724): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2106750 | A | AGCCCCTC others(698): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0131 | 1 | 201 | 0.0050 | 705 | c.335 others(724): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 467520 | G | GGGGGCGT others(698): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0208 | 1 | 267 | 0.0037 | 705 | c.809 others(722): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(698): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 240 | 0.0042 | 705 | c.66+ others(720): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(698): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 81 | 0.0123 | 705 | c.132 others(722): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RGPD4_chr2_107821892_107897544 | 107827801 | C | CGGCCCGG others(698): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0041 | a0041c0041 | a0041c0041t0039 | a0041c0041t0039g0211 | 1 | 353 | 0.0028 | 705 | c.72+ others(718): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43280957 | T | TTGGCCAC others(698): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0003 | a0001c0003t0052 | a0001c0003t0052g0185 | 1 | 238 | 0.0042 | 705 | c.484 others(724): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(698): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 230 | 0.0043 | 705 | c.115 others(722): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(698): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 230 | 0.0043 | 705 | c.115 others(722): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(698): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0108 | 1 | 230 | 0.0043 | 705 | c.115 others(722): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77356681 | C | CCCCCTCC others(698): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0016 | a0001c0001t0002g0116 a0002c0002t0016g0120 |
2 | 118 | 0.0169 | 705 | c.77- others(722): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356681 | C | CCCCCTCC others(698): Show |
intron_variant | MODIFIER | HG01346.hp1 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0013 | a0001c0001t0002g0098 a0002c0002t0013g0099 |
2 | 122 | 0.0164 | 705 | c.22+ others(722): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66772135 | G | GCCTAGGC others(698): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 a0001c0002t0002g0023 |
2 | 140 | 0.0143 | 705 | c.-12 others(726): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66772140 | G | GGCTGGAG others(698): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01978.hp2 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0008others(2): Show | a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 others(17): Show |
20 | 95 | 0.2105 | 705 | c.-12 others(726): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPATA6_chr1_48290373_48477204 | 48384358 | G | GGGAGAGG others(698): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 320 | 0.0031 | 705 | c.909 others(720): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46170245 | C | CCCCTATT others(698): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0172 |
3 | 242 | 0.0124 | 705 | c.194 others(722): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(698): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0290 | 1 | 3 | 0.3333 | 705 | c.597 others(722): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273782 | C | CACGACCG others(698): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 244 | 0.0041 | 705 | c.228 others(724): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377282 | C | CCCCCTCT others(698): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0262 | 1 | 329 | 0.0030 | 705 | c.-13 others(716): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1257 | chr19 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161763 | C | CACCCCTG others(698): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 353 | 0.0028 | 705 | c.*24 others(716): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2165 | chr11 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028623 | C | CCCCCACA others(698): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 210 | 0.0048 | 705 | c.225 others(724): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870316 | C | CCCCACAC others(698): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 229 | 0.0044 | 705 | c.*35 others(724): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(698): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG03041.hp2 others(3): Show |
a0002a0004a0006others(1): Show | a0002c0003a0004c0027a0006c0016others(2): Show | a0002c0003t0003a0004c0027t0003a0006c0016t0002others(2): Show | a0002c0003t0003g0120 a0004c0027t0003g0277 a0006c0016t0002g0012 others(3): Show |
6 | 77 | 0.0779 | 705 | c.205 others(724): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
ZNF138_chr7_64789428_64838680 | 64829559 | T | TTTGACCT others(698): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG02735.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0003 | a0001c0001t0001g0199 a0001c0001t0001g0359 a0002c0002t0001g0340 others(2): Show |
5 | 10 | 0.5000 | 705 | c.209 others(722): Show |
ZNF138 | ENSG00000197008.10 | transcript | ENST00000307355.12 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
ZNF138_chr7_64789428_64838680 | 64829559 | T | TTTGACCT others(698): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00673.hp2 others(26): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0004a0002c0002t0007a0002c0002t0014others(1): Show | a0002c0002t0004g0081 a0002c0002t0004g0082 a0002c0002t0004g0084 others(26): Show |
29 | 34 | 0.8529 | 705 | c.209 others(722): Show |
ZNF138 | ENSG00000197008.10 | transcript | ENST00000307355.12 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
ZNF138_chr7_64789428_64838680 | 64829559 | T | TTTGACCT others(698): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0181 | 1 | 6 | 0.1667 | 705 | c.209 others(722): Show |
ZNF138 | ENSG00000197008.10 | transcript | ENST00000307355.12 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172204 | A | ATAAATGA others(699): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 NA18944.hp1 others(4): Show |
a0001a0019 | a0001c0001a0001c0006a0019c0036 | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(1): Show | a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 others(4): Show |
7 | 213 | 0.0329 | 706 | c.278 others(725): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456246 | A | ATATAGTA others(699): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 86 | 0.0116 | 706 | c.505 others(725): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(699): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 57 | 0.0175 | 706 | c.409 others(725): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(699): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 57 | 0.0175 | 706 | c.409 others(725): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687228 | C | CCCCCGTG others(699): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 209 | 0.0048 | 706 | c.-16 others(717): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1383 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687705 | A | AGCGGTGA others(699): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0003 | 1 | 119 | 0.0084 | 706 | c.-21 others(717): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1860 | chr8 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25757900 | T | TCACCTGC others(699): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0105 | 1 | 162 | 0.0062 | 706 | c.655 others(725): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
C11orf24_chr11_68256338_68276973 | 68264684 | C | CTATCCAT others(699): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 81 | 0.0123 | 706 | c.-99 others(721): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
CCDC141_chr2_178824757_179055137 | 178903090 | T | TAAAAAGT others(699): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0008 | 1 | 222 | 0.0045 | 706 | c.126 others(725): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 8/23 | chr2 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56097756 | T | TATATATA others(699): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0003 | a0003c0005 | a0003c0005t0007 | a0003c0005t0007g0250 | 1 | 261 | 0.0038 | 706 | c.181 others(725): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478383 | G | GGAGGGGA others(699): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0086 | 1 | 57 | 0.0175 | 706 | c.158 others(723): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(699): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0100 | a0100c0222 | a0100c0222t0001 | a0100c0222t0001g0128 | 1 | 224 | 0.0045 | 706 | c.118 others(725): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(699): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0071 | a0071c0112 | a0071c0112t0001 | a0071c0112t0001g0076 | 1 | 224 | 0.0045 | 706 | c.118 others(725): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237115 | G | GGGAGAGG others(699): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 328 | 0.0030 | 706 | c.*29 others(717): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2835 | chr11 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26005387 | A | ATATAATA others(699): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0179 | 1 | 92 | 0.0109 | 706 | c.551 others(725): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716160 | G | GTTGGTGT others(699): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 164 | 0.0061 | 706 | c.86- others(719): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCTTCT others(699): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0005 | a0005c0004 | a0005c0004t0003 | a0005c0004t0003g0026 | 1 | 146 | 0.0068 | 706 | c.193 others(725): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(699): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0164 | 1 | 4 | 0.2500 | 706 | c.126 others(723): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(699): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 | 1 | 4 | 0.2500 | 706 | c.126 others(723): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar |