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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(929): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(25): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0058 a0001c0003t0001g0015 others(3): Show |
28 | 190 | 0.1474 | 936 | c.102 others(951): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(929): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02083.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 3 | 165 | 0.0182 | 936 | c.102 others(951): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(929): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0387 | 1 | 96 | 0.0104 | 936 | c.119 others(955): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(929): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0007 | a0007c0041 | a0007c0041t0001 | a0007c0041t0001g0033 | 1 | 126 | 0.0079 | 936 | c.193 others(955): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185061 | T | TCCCCCTT others(929): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0008 | a0008c0056 | a0008c0056t0001 | a0008c0056t0001g0144 | 1 | 141 | 0.0071 | 936 | c.193 others(955): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(929): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0210 | 1 | 10 | 0.1000 | 936 | c.310 others(951): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
GTPBP4_chr10_983434_1024932 | 1010845 | A | ACTCTGGT others(929): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 66 | 0.0303 | 936 | c.134 others(953): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399217 | C | CCACCACC others(929): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02976.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0285 others(1): Show |
4 | 293 | 0.0137 | 936 | c.-25 others(953): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399442 | T | TCACCACC others(929): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 248 | 0.0040 | 936 | c.-25 others(953): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(929): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 149 | 0.0067 | 936 | c.804 others(953): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406423 | T | TTGTCACT others(929): Show |
3_prime_UTR_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0132 | 1 | 263 | 0.0038 | 936 | c.*41 others(945): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 410 | chr2 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997235 | G | GGTCGGGG others(929): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0008 | a0008c0012 | a0008c0012t0010 | a0008c0012t0010g0258 | 1 | 372 | 0.0027 | 936 | c.-22 others(947): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 435 | chr6 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(929): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0031 | 1 | 16 | 0.0625 | 936 | c.56- others(953): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(929): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0003 | 1 | 16 | 0.0625 | 936 | c.56- others(953): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6273141 | T | TACAGAAC others(929): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0087 | 1 | 66 | 0.0152 | 936 | c.128 others(953): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(929): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0040 | 1 | 31 | 0.0323 | 936 | c.956 others(953): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LRCH3_chr3_197786254_197893436 | 197877547 | C | CTCACCGC others(929): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0022 | 1 | 242 | 0.0041 | 936 | c.220 others(955): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(929): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0264 | 1 | 8 | 0.1250 | 936 | c.115 others(953): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(929): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0010 | a0010c0046 | a0010c0046t0001 | a0010c0046t0001g0224 | 1 | 8 | 0.1250 | 936 | c.115 others(953): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(929): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03540.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0079 a0003c0004t0002g0080 |
2 | 9 | 0.2222 | 936 | c.641 others(951): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667493 | G | GCCTTACC others(929): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 289 | 0.0035 | 936 | c.148 others(955): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(929): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 288 | 0.0035 | 936 | c.-40 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050200 | G | GTCCCTAC others(929): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 251 | 0.0040 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4024 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01346.hp1 HG01361.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0069 others(1): Show |
8 | 173 | 0.0462 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG02818.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 |
3 | 168 | 0.0179 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 166 | 0.0060 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01168.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0020 a0002c0004t0001g0071 |
9 | 174 | 0.0517 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01884.hp2 others(18): Show |
a0001a0007 | a0001c0001a0001c0005a0007c0007 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(4): Show |
21 | 186 | 0.1129 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 166 | 0.0060 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(23): Show |
a0001a0003 | a0001c0001a0001c0012a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(6): Show |
26 | 191 | 0.1361 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0002 |
2 | 167 | 0.0120 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | |||||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(929): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 31 | 0.0323 | 936 | c.*27 others(947): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | |||||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(929): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 31 | 0.0323 | 936 | c.*27 others(947): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | |||||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(929): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 31 | 0.0323 | 936 | c.*27 others(947): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88729881 | G | GCCCCATC others(929): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02965.hp2 |
a0030 | a0030c0069a0030c0132 | a0030c0069t0001a0030c0132t0001 | a0030c0069t0001g0114 a0030c0132t0001g0160 |
2 | 279 | 0.0072 | 936 | c.319 others(955): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 22/50 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(929): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0191 | 1 | 24 | 0.0417 | 936 | c.371 others(953): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(929): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0095 | 1 | 24 | 0.0417 | 936 | c.371 others(953): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(929): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0248 | 1 | 24 | 0.0417 | 936 | c.371 others(953): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137518772 | C | CACTCCAT others(929): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0155 | 1 | 182 | 0.0055 | 936 | c.108 others(955): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2124353 | C | CTGTAGTT others(929): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0250 | 1 | 62 | 0.0161 | 936 | c.335 others(955): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458540 | C | CCACAGGG others(929): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0051 | 1 | 269 | 0.0037 | 936 | c.715 others(953): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(929): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0091 | 1 | 263 | 0.0038 | 936 | c.715 others(953): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458579 | C | CCACAGGG others(929): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 230 | 0.0043 | 936 | c.715 others(953): 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(929): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 | 1 | 207 | 0.0048 | 936 | c.715 others(953): 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(929): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0209 | 1 | 207 | 0.0048 | 936 | c.715 others(953): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646046 | T | TCCACCTC others(929): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0012 | a0012c0052 | a0012c0052t0001 | a0012c0052t0001g0123 | 1 | 141 | 0.0071 | 936 | c.-35 others(957): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322971 | T | TTATATTA others(929): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0052 | 1 | 125 | 0.0080 | 936 | c.389 others(957): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77323000 | T | TTATATTA others(929): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0040 | a0001c0001t0029g0042 a0001c0001t0040g0057 |
2 | 137 | 0.0146 | 936 | c.389 others(957): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 355823 | A | AACAGTCG others(929): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0118 | 1 | 113 | 0.0088 | 936 | c.-33 others(947): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3017 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 355823 | A | AACAGTCG others(929): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 113 | 0.0088 | 936 | c.-33 others(947): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3017 | chr17 | TogoVar |