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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TSNARE1_chr8_142207080_142408182 | 142272646 | A | ACACCTTC others(815): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0056 | 1 | 238 | 0.0042 | 822 | c.144 others(841): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871032 | C | CACACACC others(815): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 338 | 0.0030 | 822 | c.*35 others(841): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(815): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0274 | 1 | 344 | 0.0029 | 822 | c.218 others(839): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(815): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 246 | 0.0041 | 822 | c.-10 others(839): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 781571 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0006 | a0002c0006t0043 | a0002c0006t0043g0008 | 1 | 271 | 0.0037 | 822 | c.-23 others(841): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 781571 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01358.hp2 HG02027.hp2 others(25): Show |
a0001a0003a0004others(8): Show | a0001c0004a0001c0015a0003c0007others(11): Show | a0001c0004t0012a0001c0015t0005a0001c0015t0012others(16): Show | a0001c0004t0012g0165a0001c0015t0005g0034a0001c0015t0012g0005others(24): Show | 28 | 271 | 0.1033 | 822 | c.-23 others(841): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 781571 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0013 | a0013c0059 | a0013c0059t0014 | a0013c0059t0014g0173 | 1 | 271 | 0.0037 | 822 | c.-23 others(841): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 781571 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0047a0001c0002t0040a0001c0003t0028others(7): Show | a0001c0001t0047g0012a0001c0002t0040g0027a0001c0003t0028g0026others(12): Show | 15 | 271 | 0.0554 | 822 | c.-23 others(841): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 781571 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0037 | 1 | 271 | 0.0037 | 822 | c.-23 others(841): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 781571 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0025 | 1 | 271 | 0.0037 | 822 | c.-23 others(841): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 781571 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01123.hp1 HG01975.hp2 others(4): Show |
a0001a0003a0007 | a0001c0001a0001c0009a0003c0007others(1): Show | a0001c0001t0017a0001c0009t0029a0003c0007t0041others(1): Show | a0001c0001t0017g0030a0001c0001t0017g0031a0001c0009t0029g0028others(4): Show | 7 | 271 | 0.0258 | 822 | c.-23 others(841): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 781571 | G | GGACACAG others(815): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01346.hp1 HG01884.hp1 others(10): Show |
a0001a0012a0016 | a0001c0004a0001c0008a0001c0009others(4): Show | a0001c0004t0005a0001c0004t0044a0001c0008t0007others(5): Show | a0001c0004t0005g0017a0001c0004t0044g0011a0001c0008t0007g0018others(10): Show | 13 | 271 | 0.0480 | 822 | c.-23 others(841): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(815): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 |
a0001a0002 | a0001c0004a0002c0007 | a0001c0004t0002a0002c0007t0002 | a0001c0004t0002g0265a0002c0007t0002g0008 | 2 | 290 | 0.0069 | 822 | c.205 others(841): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(816): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0156 | 1 | 337 | 0.0030 | 823 | c.61+ others(838): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(816): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0005 | a0005c0021 | a0005c0021t0002 | a0005c0021t0002g0102 | 1 | 310 | 0.0032 | 823 | c.267 others(842): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9400231 | C | CCCTCCCC others(816): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0003 | a0003c0014 | a0003c0014t0003 | a0003c0014t0003g0051 | 1 | 210 | 0.0048 | 823 | c.273 others(840): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(816): Show |
intron_variant | MODIFIER | HG03471.hp1 NA18906.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0021a0001c0004t0005g0144 | 2 | 210 | 0.0095 | 823 | c.273 others(840): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(816): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0217 | 1 | 298 | 0.0034 | 823 | c.955 others(840): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(816): Show |
intron_variant | MODIFIER | NA18977.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0087 | 2 | 298 | 0.0067 | 823 | c.955 others(840): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CDC27_chr17_47112703_47194295 | 47131877 | C | CCCAGGCT others(816): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0094 | 1 | 358 | 0.0028 | 823 | c.203 others(840): Show |
CDC27 | ENSG00000004897.12 | transcript | ENST00000066544.8 | protein_coding | 15/18 | chr17 | TogoVar | ||||||
CDC27_chr17_47112703_47194295 | 47131877 | C | CCCAGGCT others(816): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 358 | 0.0028 | 823 | c.203 others(840): Show |
CDC27 | ENSG00000004897.12 | transcript | ENST00000066544.8 | protein_coding | 15/18 | chr17 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(816): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0140 | 1 | 336 | 0.0030 | 823 | c.248 others(840): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(816): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 336 | 0.0030 | 823 | c.248 others(840): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(816): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0130 | 1 | 336 | 0.0030 | 823 | c.248 others(840): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(816): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0121 | 1 | 270 | 0.0037 | 823 | c.162 others(844): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485414 | C | CCCCCCCA others(816): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0005 | a0002c0005t0011 | a0002c0005t0011g0150 | 1 | 342 | 0.0029 | 823 | c.844 others(840): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CTNND2_chr5_10966836_11909446 | 11143969 | C | CCTACCAT others(816): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0025 | 1 | 26 | 0.0385 | 823 | c.215 others(844): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 12/21 | chr5 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947513 | G | GTGATGGT others(816): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0040 | 1 | 136 | 0.0074 | 823 | c.47- others(840): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89635050 | C | CCCTTTCC others(816): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 250 | 0.0040 | 823 | c.105 others(838): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(816): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 374 | 0.0027 | 823 | c.*14 others(834): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486886 | A | ACCTGCCC others(816): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 374 | 0.0027 | 823 | c.*14 others(834): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1127 | chr20 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586355 | G | GGGGGGGA others(816): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0175 | 1 | 308 | 0.0033 | 823 | c.157 others(840): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 315827 | C | CACACAAA others(816): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0145 | 1 | 155 | 0.0065 | 823 | c.488 others(838): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323366 | T | TATGGAAT others(816): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0084 | 1 | 323 | 0.0031 | 823 | c.-16 others(834): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1603 | chr21 | TogoVar | ||||||
IQCB1_chr3_121764761_121840060 | 121786167 | T | TAGGAAGA others(816): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0171 | 1 | 308 | 0.0033 | 823 | c.127 others(842): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | ||||||
IQGAP3_chr1_156520405_156577565 | 156557654 | G | GGGAGGTG others(816): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03540.hp2 others(1): Show |
a0004a0014 | a0004c0005a0014c0020 | a0004c0005t0003a0014c0020t0004 | a0004c0005t0003g0040a0004c0005t0003g0041a0004c0005t0003g0042others(1): Show | 4 | 340 | 0.0118 | 823 | c.113 others(840): Show |
IQGAP3 | ENSG00000183856.11 | transcript | ENST00000361170.7 | protein_coding | 11/37 | chr1 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400231 | C | CCCTCCCC others(816): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0106a0001c0001t0203 | a0001c0001t0106g0181a0001c0001t0203g0183 | 2 | 276 | 0.0073 | 823 | c.*66 others(834): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3243 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(816): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG03471.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0019a0001c0001t0021 | a0001c0001t0018g0158a0001c0001t0019g0159a0001c0001t0021g0160 | 3 | 276 | 0.0109 | 823 | c.*65 others(834): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(816): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0110 | 1 | 386 | 0.0026 | 823 | c.-46 others(834): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471488 | A | ATATATAA others(816): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 260 | 0.0039 | 823 | c.125 others(840): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTGCCC others(816): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0004 | a0004c0004 | a0004c0004t0010 | a0004c0004t0010g0155 | 1 | 194 | 0.0052 | 823 | c.-12 others(842): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17876791 | T | TAAGGAGG others(816): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0101 | 1 | 274 | 0.0037 | 823 | c.224 others(842): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(816): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 280 | 0.0036 | 823 | c.641 others(838): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(816): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02486.hp2 HG03239.hp1 others(2): Show |
a0001a0019 | a0001c0001a0001c0002a0019c0073 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0046a0001c0001t0005g0225a0001c0002t0001g0202others(2): Show | 5 | 280 | 0.0179 | 823 | c.641 others(838): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(816): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0155 | 1 | 272 | 0.0037 | 823 | c.250 others(838): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(816): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 272 | 0.0037 | 823 | c.250 others(838): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(816): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0166 | 1 | 208 | 0.0048 | 823 | c.279 others(838): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(816): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0007 | a0007c0028 | a0007c0028t0004 | a0007c0028t0004g0002 | 1 | 208 | 0.0048 | 823 | c.279 others(838): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(816): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0158 | 1 | 208 | 0.0048 | 823 | c.279 others(838): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ATATATAC others(816): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 439 | 0.0023 | 823 | c.-15 others(834): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar |