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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNA15_chr19_3131033_3168749 | 3145577 | T | TCTCACTC others(494): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0134 | 1 | 450 | 0.0022 | 501 | c.146 others(518): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(494): Show |
conservative_inframe_insertion | MODERATE | HG04115.hp1 | a0001 | a0001c0057 | a0001c0057t0001 | a0001c0057t0001g0097 | 1 | 396 | 0.0025 | 501 | c.239 others(510): Show |
p.Ala others(514): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GRID1_chr10_85594552_86371795 | 86121548 | T | TATCTCAC others(494): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(40): Show | a0001c0001t0001g0024a0001c0001t0001g0040a0001c0001t0002g0021others(46): Show | 49 | 96 | 0.5104 | 501 | c.726 others(520): Show |
GRID1 | ENSG00000182771.19 | transcript | ENST00000327946.12 | protein_coding | 4/15 | chr10 | TogoVar | ||||||
GRID1_chr10_85594552_86371795 | 86121548 | T | TATCTCAC others(494): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 96 | 0.0104 | 501 | c.726 others(520): Show |
GRID1 | ENSG00000182771.19 | transcript | ENST00000327946.12 | protein_coding | 4/15 | chr10 | TogoVar | ||||||
GRID1_chr10_85594552_86371795 | 86121548 | T | TATCTCAC others(494): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00741.hp1 others(26): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(19): Show | a0001c0001t0001g0004a0001c0001t0001g0025a0001c0001t0001g0031others(26): Show | 29 | 96 | 0.3021 | 501 | c.726 others(520): Show |
GRID1 | ENSG00000182771.19 | transcript | ENST00000327946.12 | protein_coding | 4/15 | chr10 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45376251 | A | AGAATATA others(494): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 226 | 0.0044 | 501 | c.123 others(522): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(494): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0013 | a0013c0015 | a0013c0015t0014 | a0013c0015t0014g0024 | 1 | 134 | 0.0075 | 501 | c.520 others(522): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
IGF2_chr11_2124117_2144389 | 2127185 | A | AGGGATGA others(494): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0166 | a0001c0001t0166g0228 | 1 | 388 | 0.0026 | 501 | c.*58 others(512): Show |
IGF2 | ENSG00000167244.22 | transcript | ENST00000416167.7 | protein_coding | 1931 | chr11 | TogoVar | ||||||
IGF2_chr11_2124117_2144389 | 2127185 | A | AGGGATGA others(494): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0059a0001c0001t0109 | a0001c0001t0059g0041a0001c0001t0109g0120 | 2 | 388 | 0.0052 | 501 | c.*58 others(512): Show |
IGF2 | ENSG00000167244.22 | transcript | ENST00000416167.7 | protein_coding | 1931 | chr11 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163273 | C | CCTCCCTC others(494): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 282 | 0.0036 | 501 | c.258 others(518): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132173111 | C | CCTCCTTC others(494): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0034 | 1 | 158 | 0.0063 | 501 | c.*11 others(522): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(494): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 NA18957.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0059a0001c0002t0002g0101 | 2 | 308 | 0.0065 | 501 | c.*66 others(512): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124610422 | A | AGGGTGAG others(494): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 260 | 0.0039 | 501 | c.717 others(518): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRP2_chr2_169122109_169367534 | 169327875 | A | AGGGAGGT others(494): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0013 | a0013c0142 | a0013c0142t0006 | a0013c0142t0006g0026 | 1 | 250 | 0.0040 | 501 | c.80- others(516): Show |
LRP2 | ENSG00000081479.15 | transcript | ENST00000649046.1 | protein_coding | 1/78 | chr2 | TogoVar | ||||||
LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAAAAG others(494): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02809.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0014a0001c0005t0001g0212 | 2 | 212 | 0.0094 | 501 | c.363 others(518): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75906495 | T | TATTATAT others(494): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0282 | 1 | 332 | 0.0030 | 501 | c.262 others(520): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | chr1 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543828 | G | GTGGTGGT others(494): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 342 | 0.0029 | 501 | c.152 others(518): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667898 | T | TCCCTTAC others(494): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 378 | 0.0027 | 501 | c.148 others(520): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8656162 | G | GCCACCTT others(494): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0225 | 1 | 366 | 0.0027 | 501 | c.-16 others(522): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(494): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0197 | 1 | 356 | 0.0028 | 501 | c.91+ others(514): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(494): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 | 1 | 356 | 0.0028 | 501 | c.91+ others(514): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NXN_chr17_794310_984776 | 841411 | T | TGACCACG others(494): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 242 | 0.0041 | 501 | c.361 others(520): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841433 | G | GGCGAGCA others(494): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 242 | 0.0041 | 501 | c.361 others(520): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841547 | C | CGGCGAGC others(494): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0159 | 1 | 242 | 0.0041 | 501 | c.361 others(520): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841610 | A | AGCGCATC others(494): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 242 | 0.0041 | 501 | c.361 others(520): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OR10R2_chr1_158467220_158485936 | 158473767 | C | CCTTCTTC others(494): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0078 | 1 | 446 | 0.0022 | 501 | c.27+ others(516): Show |
OR10R2 | ENSG00000198965.5 | transcript | ENST00000641067.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OTOF_chr2_26452203_26483124 | 26476517 | T | TCCCCACC others(494): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0077 | 1 | 330 | 0.0030 | 501 | c.436 others(516): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 5/28 | chr2 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(494): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 178 | 0.0056 | 501 | c.773 others(516): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PDE10A_chr6_165322289_165668241 | 165619415 | T | TAGCCTAG others(494): Show |
intron_variant | MODIFIER | NA18951.hp1 NA19010.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0038a0001c0001t0001g0039 | 3 | 222 | 0.0135 | 501 | c.865 others(520): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
PDE10A_chr6_165322289_165668241 | 165619415 | T | TAGCCTAG others(494): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 222 | 0.0045 | 501 | c.865 others(520): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977348 | C | CAACCCCG others(494): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 408 | 0.0025 | 501 | c.215 others(518): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 976875 | C | CAACCCCG others(494): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0167 | 1 | 422 | 0.0024 | 501 | c.*23 others(512): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1011 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977348 | C | CAACCCCG others(494): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0057a0001c0001t0016g0048 | 2 | 422 | 0.0047 | 501 | c.*27 others(512): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1484 | chr1 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492490 | C | CCGGGAGA others(494): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 295 | 0.0034 | 501 | c.126 others(520): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCCT others(494): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0049 | 1 | 218 | 0.0046 | 501 | c.80+ others(518): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RNF213_chr17_80255852_80403794 | 80281590 | G | GCCAACAC others(494): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00609.hp2 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0034a0001c0001t0052others(18): Show | a0001c0001t0001g0040a0001c0001t0034g0086a0001c0001t0052g0054others(20): Show | 23 | 292 | 0.0788 | 501 | c.262 others(518): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RSPH1_chr21_42467486_42501224 | 42477225 | C | CCCCTCCA others(494): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01192.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089a0001c0002t0001g0125 | 2 | 408 | 0.0049 | 501 | c.727 others(514): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693729 | A | ACCACCTC others(494): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0005 | 1 | 60 | 0.0167 | 501 | c.299 others(518): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SCAMP1_chr5_78355617_78485739 | 78430203 | T | TTATAAAT others(494): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 332 | 0.0030 | 501 | c.632 others(518): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SCAMP1_chr5_78355617_78485739 | 78430203 | T | TTGTTTAT others(494): Show |
intron_variant | MODIFIER | HG02922.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207a0001c0001t0001g0240 | 2 | 332 | 0.0060 | 501 | c.632 others(518): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(494): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 300 | 0.0033 | 501 | c.626 others(518): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SLC1A2_chr11_35246205_35424558 | 35403936 | G | GGCAAAGG others(494): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0026others(69): Show | 72 | 306 | 0.2353 | 501 | c.17+ others(518): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
SLC1A2_chr11_35246205_35424558 | 35403936 | G | GGCAAAGG others(494): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02922.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0014a0001c0004t0031 | a0001c0003t0014g0280a0001c0004t0031g0286 | 2 | 306 | 0.0065 | 501 | c.17+ others(518): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
SLC37A3_chr7_140328752_140403530 | 140387779 | A | AATATAAA others(494): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 346 | 0.0029 | 501 | c.-70 others(518): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827031 | T | TATATATT others(494): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 302 | 0.0033 | 501 | c.12+ others(516): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SNX9_chr6_157818246_157950077 | 157827116 | C | AACATATA others(494): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 302 | 0.0033 | 501 | c.12+ others(516): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827277 | T | TATATAAT others(494): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 302 | 0.0033 | 501 | c.12+ others(516): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(494): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 251 | 0.0040 | 501 | c.*34 others(510): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 167109065 | T | TATACTTA others(494): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0113 | 1 | 144 | 0.0069 | 501 | c.190 others(520): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(494): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 268 | 0.0037 | 501 | c.*73 others(512): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar |