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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIRREL3_chr11_126418358_127005770 | 126799420 | C | CTGTGTGC others(995): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0043 | 1 | 82 | 0.0122 | 1002 | c.55+ others(1021): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(995): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02738.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009 | a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 others(1): Show |
4 | 5 | 0.8000 | 1002 | c.27- others(1017): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(995): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 2 | 0.5000 | 1002 | c.27- others(1017): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(995): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0059 a0001c0006t0003g0060 |
2 | 65 | 0.0308 | 1002 | c.225 others(1019): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(995): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 67 | 0.0149 | 1002 | c.306 others(1021): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2124371 | C | CTGTAGTT others(995): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0273 | 1 | 58 | 0.0172 | 1002 | c.335 others(1021): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(995): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 3 | 0.3333 | 1002 | c.159 others(1019): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(995): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 100 | 0.0100 | 1002 | c.45- others(1017): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(995): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0041 | 1 | 283 | 0.0035 | 1002 | c.115 others(1019): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(995): Show |
downstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0028 | 1 | 149 | 0.0067 | 1002 | c.*73 others(1013): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(995): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 50 | 0.0200 | 1002 | c.*24 others(1013): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(995): Show |
downstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 50 | 0.0200 | 1002 | c.*24 others(1013): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042115 | C | CATCATAA others(995): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0109 | 1 | 304 | 0.0033 | 1002 | c.-25 others(1013): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 2547 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042115 | C | CATCATAA others(995): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0110 | 1 | 304 | 0.0033 | 1002 | c.-25 others(1013): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 2547 | chr15 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870213 | C | CACACACA others(995): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 281 | 0.0036 | 1002 | c.*35 others(1021): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
VCX3A_chrX_6528618_6540118 | 6532792 | C | CCCTCCCT others(995): Show |
downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 68 | 0.0147 | 1002 | c.*95 others(1011): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 825 | chrX | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(995): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 100 | 0.0100 | 1002 | c.-10 others(1019): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(995): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0248 | 1 | 180 | 0.0056 | 1002 | c.97+ others(1017): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(995): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0247 | 1 | 180 | 0.0056 | 1002 | c.97+ others(1017): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(995): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 180 | 0.0056 | 1002 | c.97+ others(1017): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(995): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01168.hp1 HG01358.hp1 others(30): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005a0001c0002t0014others(2): Show | a0001c0002t0003g0260 a0001c0002t0003g0262 a0001c0002t0003g0263 others(28): Show |
33 | 212 | 0.1557 | 1002 | c.97+ others(1017): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(995): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0013 | a0001c0002t0010g0016 a0001c0002t0010g0017 a0001c0002t0010g0018 others(3): Show |
6 | 185 | 0.0324 | 1002 | c.97+ others(1017): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(995): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01081.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0001 a0001c0001t0001g0104 a0001c0001t0001g0106 others(7): Show |
12 | 191 | 0.0628 | 1002 | c.97+ others(1017): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(995): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0012 a0001c0002t0013g0013 |
2 | 181 | 0.0110 | 1002 | c.97+ others(1017): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(995): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 180 | 0.0056 | 1002 | c.97+ others(1017): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(996): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 30 | 0.0333 | 1003 | c.505 others(1022): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461400 | T | TCTGGACT others(996): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0022 | 2 | 304 | 0.0066 | 1003 | c.578 others(1018): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461400 | T | TCTGGACT others(996): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0057 | 1 | 303 | 0.0033 | 1003 | c.578 others(1018): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(996): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0000 | 1 | 10 | 0.1000 | 1003 | c.*10 others(1016): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 29063614 | C | CGGGGAGT others(996): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0118 a0002c0002t0006g0130 |
2 | 114 | 0.0175 | 1003 | c.951 others(1020): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(996): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03098.hp2 |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0105 a0003c0004t0006g0108 |
2 | 9 | 0.2222 | 1003 | c.285 others(1022): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CDH10_chr5_24482100_24649978 | 24574743 | T | TTGCTAAG others(996): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284 | 1 | 202 | 0.0050 | 1003 | c.231 others(1022): Show |
CDH10 | ENSG00000040731.10 | transcript | ENST00000264463.8 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(996): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 211 | 0.0047 | 1003 | c.342 others(1024): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(996): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0197 | 1 | 211 | 0.0047 | 1003 | c.342 others(1024): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(996): Show |
intron_variant | MODIFIER | NA19010.hp1 NA19081.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0206 a0002c0002t0002g0191 |
2 | 178 | 0.0112 | 1003 | c.342 others(1024): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CLTCL1_chr22_19174473_19296719 | 19202405 | C | CCATCCAC others(996): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0105 | 1 | 326 | 0.0031 | 1003 | c.360 others(1020): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19202405 | C | CCATCCAC others(996): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01257.hp2 others(7): Show |
a0004a0008 | a0004c0006a0008c0010 | a0004c0006t0003a0008c0010t0003 | a0004c0006t0003g0104 a0004c0006t0003g0106 a0004c0006t0003g0107 others(7): Show |
10 | 335 | 0.0299 | 1003 | c.360 others(1020): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19202405 | C | CCATCCAC others(996): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01106.hp2 |
a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0103 a0004c0006t0003g0112 |
2 | 327 | 0.0061 | 1003 | c.360 others(1020): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATGTG others(996): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0015 | a0001c0015t0032 | a0001c0015t0032g0019 | 1 | 76 | 0.0132 | 1003 | c.183 others(1022): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316301 | G | GACACACA others(996): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 NA18964.hp1 |
a0004 | a0004c0006a0004c0007 | a0004c0006t0001a0004c0006t0003a0004c0007t0002 | a0004c0006t0001g0012 a0004c0006t0003g0014 a0004c0007t0002g0013 |
3 | 69 | 0.0435 | 1003 | c.487 others(1018): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
HCN2_chr19_584881_622159 | 602360 | T | TCTCTCCT others(996): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0011 | 1 | 212 | 0.0047 | 1003 | c.633 others(1020): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(996): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 1 | 62 | 0.0161 | 1003 | c.-21 others(1014): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(996): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0052 | 1 | 16 | 0.0625 | 1003 | c.56- others(1020): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360489 | T | TGGGTGGA others(996): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0163 | 1 | 117 | 0.0085 | 1003 | c.450 others(1020): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
MFSD8_chr4_127912805_127970173 | 127926315 | A | ATCCAGGC others(996): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18947.hp1 NA19075.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0062 a0002c0002t0002g0065 a0002c0002t0002g0080 |
3 | 125 | 0.0240 | 1003 | c.999 others(1020): Show |
MFSD8 | ENSG00000164073.11 | transcript | ENST00000641686.2 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(996): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0088 | 1 | 30 | 0.0333 | 1003 | c.433 others(1020): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(996): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0067 | 1 | 30 | 0.0333 | 1003 | c.433 others(1020): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(996): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 151 | 0.0066 | 1003 | c.361 others(1022): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841642 | T | TGACCACG others(996): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 214 | 0.0047 | 1003 | c.361 others(1022): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811226 | T | TACCCTCC others(996): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0127 | 1 | 149 | 0.0067 | 1003 | c.773 others(1018): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | TogoVar |