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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(773): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0011 | 1 | 400 | 0.0025 | 780 | c.*70 others(791): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01433.hp2 others(14): Show |
a0001 | a0001c0003a0001c0021 | a0001c0003t0001a0001c0021t0001 | a0001c0003t0001g0018a0001c0003t0001g0044a0001c0003t0001g0180others(14): Show | 17 | 250 | 0.0680 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0004 | 1 | 250 | 0.0040 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 250 | 0.0040 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG02976.hp2 NA18522.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200a0001c0001t0001g0201a0001c0001t0001g0202 | 3 | 250 | 0.0120 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03704.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0019a0001c0005t0001g0179a0001c0005t0001g0185 | 3 | 250 | 0.0120 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02280.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0004 | a0001c0001t0001g0197a0001c0002t0001g0007a0001c0002t0001g0008others(9): Show | 13 | 250 | 0.0520 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 250 | 0.0040 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01255.hp1 HG01256.hp1 others(45): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(45): Show | 48 | 250 | 0.1920 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01978.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0003a0001c0018 | a0001c0003t0001a0001c0018t0005 | a0001c0003t0001g0003a0001c0003t0001g0030a0001c0003t0001g0094others(2): Show | 5 | 250 | 0.0200 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | NA18956.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0228 | 2 | 250 | 0.0080 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 250 | 0.0040 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01074.hp2 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0016a0001c0017others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0016t0001others(4): Show | a0001c0002t0001g0006a0001c0002t0001g0020a0001c0002t0001g0021others(48): Show | 51 | 250 | 0.2040 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01256.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024a0001c0002t0001g0070a0001c0002t0001g0071 | 3 | 250 | 0.0120 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 250 | 0.0040 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0068 | 1 | 250 | 0.0040 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02723.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125a0001c0002t0001g0126a0001c0002t0001g0205others(2): Show | 5 | 250 | 0.0200 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(773): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0206 | 1 | 250 | 0.0040 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980142 | G | GGGCTGAC others(773): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0198 | 1 | 250 | 0.0040 | 780 | c.328 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(773): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0000 | a0000c0007 | a0000c0007t0002 | a0000c0007t0002g0146 | 1 | 250 | 0.0040 | 780 | c.309 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(773): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 250 | 0.0040 | 780 | c.309 others(799): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 298017 | G | GGATTAGG others(773): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0019 | a0002c0019t0022 | a0002c0019t0022g0138 | 1 | 176 | 0.0057 | 780 | c.734 others(797): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCTGCA others(773): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0019 | a0019c0019 | a0019c0019t0010 | a0019c0019t0010g0164 | 1 | 210 | 0.0048 | 780 | c.147 others(797): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCTGCA others(773): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0019 | a0019c0019 | a0019c0019t0062 | a0019c0019t0062g0191 | 1 | 210 | 0.0048 | 780 | c.147 others(797): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(773): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0155 | 1 | 312 | 0.0032 | 780 | c.306 others(799): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CTCCCTCC others(773): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 227 | 0.0044 | 780 | c.*23 others(791): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458395 | A | AGGGGGCC others(773): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0034 | 1 | 295 | 0.0034 | 780 | c.715 others(797): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(773): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0103 | 1 | 295 | 0.0034 | 780 | c.715 others(797): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(773): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0161 | 1 | 220 | 0.0046 | 780 | c.24+ others(797): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341673 | A | AGGGTGGA others(773): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0151 | 1 | 312 | 0.0032 | 780 | c.188 others(799): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RIMBP2_chr12_130391133_130721299 | 130646123 | C | CTCCCTCT others(773): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0036 | a0001c0036t0001 | a0001c0036t0001g0094 | 1 | 180 | 0.0056 | 780 | c.-35 others(801): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646166 | A | ACCACCTC others(773): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0016 | a0016c0031 | a0016c0031t0002 | a0016c0031t0002g0097 | 1 | 180 | 0.0056 | 780 | c.-35 others(801): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77323000 | T | TTATATTA others(773): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 160 | 0.0063 | 780 | c.389 others(801): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 356532 | T | CCACAGGC others(773): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01255.hp2 NA18963.hp2 |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0004a0001c0001t0016a0005c0010t0003 | a0001c0001t0004g0092a0001c0001t0016g0082a0005c0010t0003g0085 | 3 | 133 | 0.0226 | 780 | c.-40 others(791): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3725 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 356559 | T | TCACAGTC others(773): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02698.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0007 | a0001c0001t0001g0110a0004c0007t0007g0117 | 2 | 133 | 0.0150 | 780 | c.-40 others(791): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3753 | chr17 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178012 | A | ATCGGGCT others(773): Show |
upstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | 780 | c.-78 others(789): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 756 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(773): Show |
upstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | 780 | c.-74 others(789): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(773): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | 780 | c.-74 others(789): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(773): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | 780 | c.-74 others(789): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178129 | C | CTCGGGCT others(773): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | 780 | c.-66 others(789): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 639 | chr19 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284177 | T | TTGGGTGA others(773): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0089 | 1 | 290 | 0.0035 | 780 | c.464 others(793): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 4264045 | C | CGTAGACC others(773): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02559.hp1 others(7): Show |
a0001a0002a0008others(3): Show | a0001c0008a0001c0027a0001c0091others(6): Show | a0001c0008t0007a0001c0027t0020a0001c0091t0010others(6): Show | a0001c0008t0007g0067a0001c0027t0020g0087a0001c0091t0010g0055others(7): Show | 10 | 116 | 0.0862 | 780 | c.638 others(799): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SHC2_chr19_411589_466033 | 432402 | C | CGGGCAGA others(773): Show |
intron_variant | MODIFIER | NA18960.hp2 NA19009.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0091a0001c0002t0003g0178 | 2 | 212 | 0.0094 | 780 | c.111 others(799): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9791969 | G | GAGAATAG others(773): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0073 | 1 | 256 | 0.0039 | 780 | c.165 others(797): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SIGIRR_chr11_400716_419999 | 410987 | A | AGGGGGGT others(773): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 242 | 0.0041 | 780 | c.-15 others(797): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286013 | T | TGTTTGGA others(773): Show |
intron_variant | MODIFIER | HG03831.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0045 | 2 | 244 | 0.0082 | 780 | c.774 others(797): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
SLC22A23_chr6_3263973_3462050 | 3402417 | G | GACCCCAA others(773): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0091 | 1 | 222 | 0.0045 | 780 | c.913 others(797): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12203106 | C | CTCAGGTG others(773): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0067 | a0001c0002t0067g0059 | 1 | 176 | 0.0057 | 780 | c.167 others(799): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNX9_chr6_157818246_157950077 | 157827145 | C | AACATATA others(773): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0203 | 1 | 302 | 0.0033 | 780 | c.12+ others(795): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852292 | C | CCCACCCC others(773): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0019 | 1 | 356 | 0.0028 | 780 | c.645 others(797): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |