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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERINC2_chr1_31408213_31439678 | 31432147 | C | CAGGGTGG others(3692): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0021 | a0002c0021t0001 | a0002c0021t0001g0041 | 1 | 376 | 0.0027 | 3699 | c.101 others(3716): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TNFRSF6B_chr20_63691652_63703684 | 63693612 | T | TCCACCAC others(3692): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 33 | 0.0303 | 3699 | c.-31 others(3710): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3039 | chr20 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262169 | G | GTGACCCT others(3693): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0208 | 1 | 292 | 0.0034 | 3700 | c.571 others(3717): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3693): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 80 | 0.0125 | 3700 | c.125 others(3717): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3693): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 282 | 0.0036 | 3700 | c.299 others(3715): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3693): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0203 | 1 | 212 | 0.0047 | 3700 | c.111 others(3717): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3693): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00621.hp1 others(21): Show |
a0001a0002a0009 | a0001c0003a0001c0006a0002c0012others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(4): Show | a0001c0003t0001g0058a0001c0003t0001g0062a0001c0003t0001g0066others(20): Show | 24 | 212 | 0.1132 | 3700 | c.111 others(3717): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3693): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0006 | a0001c0006t0001g0020a0001c0006t0001g0023a0001c0006t0001g0024others(1): Show | 4 | 212 | 0.0189 | 3700 | c.111 others(3717): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(3693): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 383 | 0.0026 | 3700 | c.-28 others(3711): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222459 | C | CTGGAGGT others(3693): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 190 | 0.0053 | 3700 | c.719 others(3719): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PIP5K1C_chr19_3625183_3705468 | 3649113 | A | ATGCCCAC others(3695): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0318 | 1 | 332 | 0.0030 | 3702 | c.112 others(3719): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66418374 | T | TAAAAAGT others(3696): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0030 | 1 | 46 | 0.0217 | 3703 | c.153 others(3724): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66418374 | T | TAAAAAGT others(3696): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 46 | 0.0217 | 3703 | c.153 others(3724): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105162665 | C | CCCAGGGT others(3696): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 364 | 0.0028 | 3703 | c.418 others(3720): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3696): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0016 | a0016c0019 | a0016c0019t0002 | a0016c0019t0002g0179 | 1 | 282 | 0.0036 | 3703 | c.299 others(3718): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(3696): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 332 | 0.0030 | 3703 | c.112 others(3720): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66418374 | T | TAAAAAGT others(3697): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0015a0001c0004t0001g0018 | 2 | 46 | 0.0435 | 3704 | c.153 others(3725): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66418374 | T | TAAAAAGT others(3697): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007a0001c0001t0006g0008 | 2 | 46 | 0.0435 | 3704 | c.153 others(3725): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | ||||||
PRKX_chrX_3599340_3718649 | 3639324 | G | GATGGATG others(3697): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0028 | 1 | 227 | 0.0044 | 3704 | c.719 others(3721): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66418374 | T | TAAAAAGT others(3698): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02818.hp2 HG02896.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0011others(1): Show | a0001c0001t0006a0001c0004t0007a0001c0011t0009others(1): Show | a0001c0001t0006g0027a0001c0004t0007g0005a0001c0011t0009g0017others(1): Show | 4 | 46 | 0.0870 | 3705 | c.153 others(3726): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66418374 | T | TAAAAAGT others(3698): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0038 | 1 | 46 | 0.0217 | 3705 | c.153 others(3726): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66418374 | T | TAAAAAGT others(3698): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0028 | 1 | 46 | 0.0217 | 3705 | c.153 others(3726): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304994 | C | CGGGAGGG others(3698): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 133 | 0.0075 | 3705 | c.351 others(3724): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(3698): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0346 | 1 | 390 | 0.0026 | 3705 | c.161 others(3724): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(3699): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182 | 1 | 298 | 0.0034 | 3706 | c.126 others(3723): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3699): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 80 | 0.0125 | 3706 | c.125 others(3723): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693729 | A | ACCACCAC others(3700): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020 | 1 | 296 | 0.0034 | 3707 | c.*67 others(3718): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4917 | chr20 | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(3700): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0009 | 1 | 40 | 0.0250 | 3707 | c.169 others(3724): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 126948051 | G | GTGGTGGT others(3700): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0053 | a0002c0053t0002 | a0002c0053t0002g0118 | 1 | 136 | 0.0074 | 3707 | c.47- others(3724): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79841384 | T | TAAAAGAA others(3700): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0288 | 1 | 312 | 0.0032 | 3707 | c.-11 others(3728): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RTEL1_chr20_63653312_63701245 | 63693729 | A | ACCACCAC others(3700): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 60 | 0.0167 | 3707 | c.299 others(3724): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TNFRSF6B_chr20_63691652_63703684 | 63693729 | A | ACCACCAC others(3700): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0007 | 1 | 33 | 0.0303 | 3707 | c.-30 others(3718): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 2922 | chr20 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2407255 | C | CACATCGT others(3701): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0036 | a0001c0036t0007 | a0001c0036t0007g0100 | 1 | 104 | 0.0096 | 3708 | c.478 others(3727): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3701): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0204 | 1 | 236 | 0.0042 | 3708 | c.294 others(3725): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3701): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0207 | 1 | 236 | 0.0042 | 3708 | c.294 others(3725): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502728 | C | CGGGGGGG others(3701): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0010 | 1 | 188 | 0.0053 | 3708 | c.147 others(3727): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
UBE3D_chr6_82887390_83070841 | 82968396 | T | TAATTCAC others(3701): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 186 | 0.0054 | 3708 | c.101 others(3729): Show |
UBE3D | ENSG00000118420.17 | transcript | ENST00000369747.8 | protein_coding | 8/9 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3702): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02723.hp2 others(3): Show |
a0016a0021a0035others(1): Show | a0016c0023a0016c0039a0021c0026others(2): Show | a0016c0023t0001a0016c0039t0001a0021c0026t0001others(2): Show | a0016c0023t0001g0265a0016c0039t0001g0074a0021c0026t0001g0156others(3): Show | 6 | 272 | 0.0221 | 3709 | c.313 others(3728): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3702): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0226 | 1 | 272 | 0.0037 | 3709 | c.313 others(3728): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP1_chr6_131803020_131900155 | 131874453 | A | ACTTTCTT others(3702): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0011 | a0011c0020 | a0011c0020t0051 | a0011c0020t0051g0191 | 1 | 292 | 0.0034 | 3709 | c.163 others(3726): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79841384 | T | TAAAAGAA others(3702): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0090 | 1 | 312 | 0.0032 | 3709 | c.-11 others(3730): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3702): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0011 | a0011c0035 | a0011c0035t0002 | a0011c0035t0002g0115 | 1 | 214 | 0.0047 | 3709 | c.206 others(3728): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
ZCWPW2_chr3_28343721_28531358 | 28456601 | G | GTGGGTTT others(3702): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226 | 1 | 254 | 0.0039 | 3709 | c.492 others(3728): Show |
ZCWPW2 | ENSG00000206559.8 | transcript | ENST00000383768.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3703): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02970.hp2 NA18522.hp1 |
a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0185a0005c0006t0008g0243a0005c0006t0008g0269 | 3 | 272 | 0.0110 | 3710 | c.313 others(3729): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3703): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02129.hp2 |
a0006a0016 | a0006c0005a0016c0023 | a0006c0005t0004a0016c0023t0001 | a0006c0005t0004g0036a0016c0023t0001g0182 | 2 | 272 | 0.0074 | 3710 | c.313 others(3729): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3703): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18983.hp1 NA19005.hp2 others(4): Show |
a0002a0005a0011others(2): Show | a0002c0011a0005c0006a0011c0014others(2): Show | a0002c0011t0003a0005c0006t0003a0011c0014t0001others(2): Show | a0002c0011t0003g0002a0002c0011t0003g0160a0005c0006t0003g0004others(4): Show | 7 | 272 | 0.0257 | 3710 | c.313 others(3729): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3703): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02109.hp1 HG02257.hp1 others(3): Show |
a0001a0002a0009others(3): Show | a0001c0001a0002c0003a0009c0012others(3): Show | a0001c0001t0001a0002c0003t0006a0009c0012t0002others(3): Show | a0001c0001t0001g0207a0002c0003t0006g0052a0009c0012t0002g0231others(3): Show | 6 | 272 | 0.0221 | 3710 | c.313 others(3729): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3703): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0006 | a0006c0005 | a0006c0005t0004 | a0006c0005t0004g0024 | 1 | 272 | 0.0037 | 3710 | c.313 others(3729): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3703): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03540.hp1 |
a0001a0058 | a0001c0001a0058c0036 | a0001c0001t0001a0058c0036t0001 | a0001c0001t0001g0173a0058c0036t0001g0247 | 2 | 272 | 0.0074 | 3710 | c.313 others(3729): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3703): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG03195.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0027a0002c0003t0002g0144 | 3 | 372 | 0.0081 | 3710 | c.-13 others(3727): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar |