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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1044): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0271 | 1 | 292 | 0.0034 | 1051 | c.228 others(1068): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1044): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0273 | 1 | 292 | 0.0034 | 1051 | c.228 others(1068): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1044): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0254 | 1 | 292 | 0.0034 | 1051 | c.228 others(1068): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1044): Show |
intron_variant | MODIFIER | NA18940.hp1 NA19055.hp2 |
a0003a0005 | a0003c0006a0005c0009 | a0003c0006t0002a0005c0009t0002 | a0003c0006t0002g0286a0005c0009t0002g0287 | 2 | 292 | 0.0069 | 1051 | c.228 others(1068): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1044): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0269 | 1 | 292 | 0.0034 | 1051 | c.228 others(1068): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1044): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0141 | 1 | 369 | 0.0027 | 1051 | c.-49 others(1062): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1044): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0083 | 1 | 369 | 0.0027 | 1051 | c.-49 others(1062): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1044): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0044 | 1 | 369 | 0.0027 | 1051 | c.-49 others(1062): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1044): Show |
upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0014 | 1 | 369 | 0.0027 | 1051 | c.-49 others(1062): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1044): Show |
upstream_gene_variant | MODIFIER | NA18992.hp1 | a0043 | a0043c0069 | a0043c0069t0002 | a0043c0069t0002g0024 | 1 | 369 | 0.0027 | 1051 | c.-49 others(1062): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1044): Show |
upstream_gene_variant | MODIFIER | NA18991.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0006 | 1 | 369 | 0.0027 | 1051 | c.-49 others(1062): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1044): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0003 | a0003c0001 | a0003c0001t0003 | a0003c0001t0003g0011 | 1 | 369 | 0.0027 | 1051 | c.-49 others(1062): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(1044): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 388 | 0.0026 | 1051 | c.105 others(1068): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ITGB1BP1_chr2_9398475_9428528 | 9400234 | T | TCCCCTCC others(1044): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0182 | 1 | 276 | 0.0036 | 1051 | c.*65 others(1062): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3240 | chr2 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87738936 | C | CCCACACA others(1044): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0379 | 1 | 380 | 0.0026 | 1051 | c.507 others(1068): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055108 | A | AGAGGGAT others(1044): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0002t0001g0167others(2): Show | 5 | 236 | 0.0212 | 1051 | c.193 others(1070): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(1044): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0005 | a0005c0014 | a0005c0014t0035 | a0005c0014t0035g0122 | 1 | 276 | 0.0036 | 1051 | c.100 others(1070): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
P2RX5_chr17_3668227_3701155 | 3680089 | A | ACGTCCTC others(1044): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0282 | 1 | 362 | 0.0028 | 1051 | c.106 others(1068): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1044): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0134 | a0001c0001t0134g0280 | 1 | 288 | 0.0035 | 1051 | c.127 others(1068): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1044): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02895.hp1 HG02896.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0022a0001c0001t0043a0001c0001t0087others(3): Show | a0001c0001t0022g0084a0001c0001t0022g0097a0001c0001t0043g0002others(4): Show | 7 | 288 | 0.0243 | 1051 | c.127 others(1068): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88713210 | T | TGAGAGCC others(1044): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01169.hp1 |
a0012 | a0012c0025a0012c0035 | a0012c0025t0001a0012c0035t0001 | a0012c0025t0001g0050a0012c0025t0001g0051a0012c0035t0001g0181 | 3 | 282 | 0.0106 | 1051 | c.*23 others(1062): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2127 | chr16 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1044): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0256 | 1 | 282 | 0.0036 | 1051 | c.299 others(1066): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341671 | G | GGAGGGTG others(1044): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0197 | 1 | 312 | 0.0032 | 1051 | c.188 others(1070): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1044): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 258 | 0.0039 | 1051 | c.113 others(1070): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1044): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 258 | 0.0039 | 1051 | c.113 others(1070): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1044): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 258 | 0.0039 | 1051 | c.113 others(1070): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1044): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 258 | 0.0039 | 1051 | c.113 others(1070): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1044): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 258 | 0.0039 | 1051 | c.113 others(1070): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TMEM163_chr2_134450759_134724000 | 134607701 | G | GACAGACC others(1044): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 222 | 0.0045 | 1051 | c.323 others(1070): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1044): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0165 | 1 | 394 | 0.0025 | 1051 | c.129 others(1068): 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(1044): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0173 | 1 | 394 | 0.0025 | 1051 | c.129 others(1068): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1044): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 274 | 0.0037 | 1051 | c.*51 others(1062): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1044): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0052 | 1 | 228 | 0.0044 | 1051 | c.127 others(1068): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1044): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 246 | 0.0041 | 1051 | c.-10 others(1068): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ZNF236_chr18_76817557_76977901 | 76967266 | T | TATTTGGT others(1044): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp1 others(24): Show |
a0001a0002a0018 | a0001c0032a0002c0004a0018c0047 | a0001c0032t0004a0002c0004t0004a0018c0047t0004 | a0001c0032t0004g0211a0002c0004t0004g0118a0002c0004t0004g0150others(24): Show | 27 | 346 | 0.0780 | 1051 | c.542 others(1068): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(1045): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0167 | 1 | 262 | 0.0038 | 1052 | c.106 others(1071): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1045): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0219 | 1 | 238 | 0.0042 | 1052 | c.787 others(1067): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1045): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 238 | 0.0042 | 1052 | c.787 others(1067): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1045): Show |
intron_variant | MODIFIER | NA18954.hp2 NA19000.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0084a0001c0001t0001g0210 | 3 | 238 | 0.0126 | 1052 | c.787 others(1067): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1045): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03225.hp2 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003 | a0001c0001t0001g0124a0002c0002t0002g0028a0002c0002t0003g0029 | 3 | 238 | 0.0126 | 1052 | c.787 others(1067): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1045): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01106.hp2 HG01169.hp2 others(23): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0085a0001c0001t0001g0111a0001c0001t0001g0126others(23): Show | 26 | 238 | 0.1092 | 1052 | c.787 others(1067): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1045): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18942.hp1 NA18944.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0163others(2): Show | 5 | 238 | 0.0210 | 1052 | c.787 others(1067): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406199 | T | TTGTCACT others(1045): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0002 | 1 | 210 | 0.0048 | 1052 | c.*28 others(1063): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 522 | chr2 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(1045): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0018 | 1 | 391 | 0.0026 | 1052 | c.*36 others(1063): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1045): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18983.hp1 NA18995.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012a0001c0001t0018 | a0001c0001t0011g0090a0001c0001t0012g0091a0001c0001t0012g0092others(1): Show | 4 | 376 | 0.0106 | 1052 | c.63+ others(1065): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(1045): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 370 | 0.0027 | 1052 | c.891 others(1069): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146812296 | T | TACACATA others(1045): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 264 | 0.0076 | 1052 | c.*19 others(1063): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TACACATA others(1045): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 272 | 0.0074 | 1052 | c.*19 others(1063): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725406 | A | AGAGGGAG others(1045): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0200 | 1 | 324 | 0.0031 | 1052 | c.340 others(1069): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1045): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0012 | a0012c0166 | a0012c0166t0001 | a0012c0166t0001g0047 | 1 | 252 | 0.0040 | 1052 | c.118 others(1071): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar |