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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00558.hp2 others(51): Show |
a0001a0002a0003others(20): Show | a0001c0002a0001c0011a0001c0012others(43): Show | a0001c0002t0005a0001c0002t0006a0001c0011t0005others(47): Show | a0001c0002t0005g0324 a0001c0002t0006g0222 a0001c0011t0005g0301 others(51): Show |
54 | 197 | 0.2741 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0009 | a0009c0168 | a0009c0168t0001 | a0009c0168t0001g0134 | 1 | 144 | 0.0069 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp1 others(2): Show |
a0007a0009a0015 | a0007c0152a0009c0173a0009c0175others(1): Show | a0007c0152t0001a0009c0173t0001a0009c0175t0001others(1): Show | a0007c0152t0001g0079 a0009c0173t0001g0124 a0009c0175t0001g0117 others(2): Show |
5 | 148 | 0.0338 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0097 | a0001c0097t0001 | a0001c0097t0001g0039 | 1 | 144 | 0.0069 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0038 | a0038c0174 | a0038c0174t0001 | a0038c0174t0001g0028 | 1 | 144 | 0.0069 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0035 | a0035c0119 | a0035c0119t0001 | a0035c0119t0001g0059 | 1 | 144 | 0.0069 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0024 | a0024c0143 | a0024c0143t0003 | a0024c0143t0003g0150 | 1 | 144 | 0.0069 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0044 | a0002c0044t0001 | a0002c0044t0001g0040 | 1 | 144 | 0.0069 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0005 | a0005c0008 | a0005c0008t0005 | a0005c0008t0005g0281 | 1 | 144 | 0.0069 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 144 | 0.0069 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0044 | a0002c0044t0003 | a0002c0044t0003g0206 | 1 | 144 | 0.0069 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02258.hp2 others(10): Show |
a0002a0011a0016others(4): Show | a0002c0187a0011c0042a0011c0122others(9): Show | a0002c0187t0001a0011c0042t0003a0011c0042t0007others(10): Show | a0002c0187t0001g0010 a0011c0042t0003g0023 a0011c0042t0007g0020 others(10): Show |
13 | 156 | 0.0833 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0142 | a0002c0142t0001 | a0002c0142t0001g0160 | 1 | 144 | 0.0069 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00597.hp2 others(60): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0012a0001c0034others(38): Show | a0001c0001t0003a0001c0012t0001a0001c0034t0003others(44): Show | a0001c0001t0003g0239 a0001c0012t0001g0101 a0001c0012t0001g0129 others(60): Show |
63 | 206 | 0.3058 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | NA18968.hp2 NA18989.hp1 |
a0002a0005 | a0002c0047a0005c0019 | a0002c0047t0003a0005c0019t0004 | a0002c0047t0003g0248 a0005c0019t0004g0270 |
2 | 145 | 0.0138 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 |
a0004a0034 | a0004c0046a0034c0071 | a0004c0046t0001a0034c0071t0003 | a0004c0046t0001g0180 a0034c0071t0003g0172 |
2 | 145 | 0.0138 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01346.hp2 |
a0002a0007 | a0002c0114a0007c0016a0007c0189 | a0002c0114t0003a0007c0016t0001a0007c0189t0002 | a0002c0114t0003g0218 a0007c0016t0001g0062 a0007c0189t0002g0018 |
3 | 146 | 0.0205 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3814): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0005 | a0001c0005t0038 | a0001c0005t0038g0155 | 1 | 77 | 0.0130 | 3821 | c.186 others(3838): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3815): Show |
intron_variant | MODIFIER | HG03492.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0152 |
2 | 17 | 0.1176 | 3822 | c.164 others(3841): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725575 | C | CGAGCAGA others(3815): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0261 | 1 | 292 | 0.0034 | 3822 | c.340 others(3839): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3815): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0154 | 1 | 77 | 0.0130 | 3822 | c.186 others(3839): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTGGAGAC others(3815): Show |
intron_variant | MODIFIER | HG03540.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0027 | a0001c0001t0026g0129 a0001c0001t0027g0128 |
2 | 78 | 0.0256 | 3822 | c.186 others(3839): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590875 | C | CCGGCTGA others(3815): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0285 | 1 | 344 | 0.0029 | 3822 | c.161 others(3841): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(3815): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0296 | 1 | 249 | 0.0040 | 3822 | c.161 others(3841): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3817): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0027 | a0027c0035 | a0027c0035t0004 | a0027c0035t0004g0058 | 1 | 32 | 0.0313 | 3824 | c.218 others(3839): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3817): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0035 | a0001c0005t0035g0260 | 1 | 77 | 0.0130 | 3824 | c.186 others(3841): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716102 | G | GTTGGTGT others(3818): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0011 a0001c0005t0001g0012 |
2 | 161 | 0.0124 | 3825 | c.86- others(3838): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCCTTC others(3818): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0035 | a0035c0123 | a0035c0123t0001 | a0035c0123t0001g0077 | 1 | 146 | 0.0068 | 3825 | c.193 others(3844): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(3818): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0030 | 1 | 259 | 0.0039 | 3825 | c.101 others(3844): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150585 | T | TACCACAC others(3820): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 110 | 0.0091 | 3827 | c.902 others(3842): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948274 | T | TTGGTGAT others(3821): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0098 | 1 | 131 | 0.0076 | 3828 | c.47- others(3845): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3821): Show |
intron_variant | MODIFIER | HG01981.hp2 NA20300.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0006a0003c0004t0006 | a0001c0002t0006g0042 a0003c0004t0006g0136 |
2 | 43 | 0.0465 | 3828 | c.139 others(3849): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150672 | A | ACACCACA others(3821): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 236 | 0.0042 | 3828 | c.902 others(3843): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3821): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0024 | a0024c0028 | a0024c0028t0001 | a0024c0028t0001g0221 | 1 | 34 | 0.0294 | 3828 | c.299 others(3843): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3821): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0147 | 1 | 20 | 0.0500 | 3828 | c.206 others(3847): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
TAB1_chr22_39394780_39436882 | 39423757 | G | GTAGCATA others(3821): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0260 | 1 | 304 | 0.0033 | 3828 | c.921 others(3845): Show |
TAB1 | ENSG00000100324.14 | transcript | ENST00000216160.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3821): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0045 a0001c0001t0007g0265 a0001c0001t0007g0266 |
3 | 79 | 0.0380 | 3828 | c.186 others(3845): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3822): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0264 | 1 | 77 | 0.0130 | 3829 | c.186 others(3846): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3822): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0132 | 1 | 77 | 0.0130 | 3829 | c.186 others(3846): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3824): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0019 | a0019c0032 | a0019c0032t0001 | a0019c0032t0001g0233 | 1 | 34 | 0.0294 | 3831 | c.299 others(3846): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(3825): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0263 | 1 | 220 | 0.0045 | 3832 | c.129 others(3851): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3825): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0098 | 1 | 105 | 0.0095 | 3832 | c.765 others(3851): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3825): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0057 | a0002c0057t0012 | a0002c0057t0012g0063 | 1 | 105 | 0.0095 | 3832 | c.765 others(3851): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3825): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0024 | a0002c0024t0003 | a0002c0024t0003g0097 | 1 | 105 | 0.0095 | 3832 | c.765 others(3851): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3826): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 62 | 0.0161 | 3833 | c.-21 others(3844): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3826): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 8 | 0.1250 | 3833 | c.-45 others(3842): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(3826): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0061 | 1 | 13 | 0.0769 | 3833 | c.*13 others(3846): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTGGAGAC others(3826): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 77 | 0.0130 | 3833 | c.186 others(3850): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3827): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0164 | 1 | 50 | 0.0200 | 3834 | c.147 others(3851): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716477 | T | TTGGTGTC others(3827): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0117 | 1 | 143 | 0.0070 | 3834 | c.86- others(3847): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |