Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IL3RA_chrX_1331785_1387689	1365562	CGCGGGGT others(88): Show CGCGGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCGG GGTGAGCCGGGTGAGCCGGGTGAGCCGGGTGCGCGGGGTGAGCCGG	C C	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	111	0.0090	-95	c.874 others(110): Show c.874+312_874+406delCGGGGTGAGCGGGGTGAGCCGGGTGCGCGG GGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGAGCCGGGTGAGCCGGGTGC GCGGGGTGAGCCGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1365854	GGGTGAGC others(88): Show GGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTG CGCGGGGTGAGCCGGGTGAGCGGGGTGAGCGGGGTGCGGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	110	0.0091	-95	c.874 others(110): Show c.874+607_874+701delAGCGGGGTGCGCGGGGTGAGCCGGGTGCGC GGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCGGGGTGAGCGGGGT GCGGGGTGCGCGGTG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5D_chr2_233055342_233212903	233144596	AAGGTGGT others(88): Show AAGGTGGTAGTGGTGATGGTGATGGTGGAGGTGGTTATGATCATGGTGGG AGTGATGGGGTAGAGATGGTGGTGGTGATGGTGATGGTGAGGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp1 HG02071.hp1 others(2): Show HG00597.hp1 HG01081.hp1 HG02071.hp1 HG02559.hp1 NA19066.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0007c0027 a0001c0001 a0001c0004 a0007c0027	a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 others(1): Show a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0007c0027t0012	a0001c0001t0002g0284 a0001c0001t0002g0294 a0001c0004t0001g0139 others(2): Show a0001c0001t0002g0284 a0001c0001t0002g0294 a0001c0004t0001g0139 a0001c0004t0002g0212 a0007c0027t0012g0127	5	307	0.0163	-95	c.754 others(112): Show c.754-1555_754-1461delGGTGATGGTGATGGTGGAGGTGGTTATG ATCATGGTGGGAGTGATGGGGTAGAGATGGTGGTGGTGATGGTGATGGTG AGGGTGGAGGTGGTAGT	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
IPCEF1_chr6_154149496_154361803	154357815	ATAAAATA others(88): Show ATAAAATATATATAATATATATAATATATATATAAAATATATATATAAAA TATATATATATATAAAATATATATATATAATATATATATAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0259 a0001c0001t0004g0259	1	262	0.0038	-95	c.-13 others(106): Show c.-1300_-1206delATATTTTATATATATATTATATATATATATTTTA TATATATATATATTTTATATATATATTTTATATATATATTATATATATTA TATATATTTTA	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		1013		chr6	TogoVar
KCNIP4_chr4_20723606_21953772	21757163	GAAAGAAG others(88): Show GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	70	0.0143	-95	c.61+ others(114): Show c.61+191313_61+191407delTCTTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNN2_chr5_114357070_114501496	114379507	TATTTATA others(88): Show TATTTATAGAATATATTATATAACATATTATATATTATAGAATATATTAT ATAACATATTATATATTATAGAATATATTATATAACATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19060.hp1 NA19084.hp1 HG02040.hp1 NA19060.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0018t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0018t0001g0029	3	248	0.0121	-95	c.121 others(116): Show c.1218+15507_1218+15601delATTTATAGAATATATTATATAACA TATTATATATTATAGAATATATTATATAACATATTATATATTATAGAATA TATTATATAACATATTATATA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7			chr5	TogoVar
KIF3C_chr2_25921598_25987497	25962946	TATATAAT others(88): Show TATATAATATATAATATATATAATATATAATATATAATATATAATATATA TAATATATAATATATAATATATATAATATATAATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02280.hp1 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0228 a0001c0002t0007g0229 a0001c0002t0007g0228 a0001c0002t0007g0229	2	237	0.0084	-95	c.154 others(114): Show c.1546-6597_1546-6503delTATATATTATATATTATATATTATAT ATATTATATATTATATATTATATATATTATATATTATATATTATATATTA TATATATTATATATTATAT	KIF3C	ENSG00000084731.15	transcript	ENST00000264712.8	protein_coding	1/7			chr2	TogoVar
KIR2DL3_chr19_54733513_54758052	54755768	ATTGGCGA others(88): Show ATTGGCGATATGGGCCTGGATTGGCGATATGGGCCTATGATGGAAATATC GGCCTGGAGTGGAGATATGGGCCTGGAGTGGAGATACAGGCCTAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0005 a0007c0006t0005	a0007c0006t0005g0045 a0007c0006t0005g0045	1	309	0.0032	-95	c.32 others(106): Show c.3250_*3344delTTGGCGATATGGGCCTGGATTGGCGATATGGGCC TATGATGGAAATATCGGCCTGGAGTGGAGATATGGGCCTGGAGTGGAGAT ACAGGCCTAGG	KIR2DL3	ENSG00000243772.8	transcript	ENST00000342376.4	protein_coding		2717		chr19	TogoVar
LHPP_chr10_124456823_124619141	124506795	GGGGGGGT others(88): Show GGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTAG GGGGTAGGGAGGATTTCAGGTGGAGAGGTAGACAGGATTTCAGGTT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02965.hp2 HG03130.hp2 others(1): Show HG01192.hp1 HG02965.hp2 HG03130.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0119 a0001c0001t0001g0198 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0119 a0001c0001t0001g0198 a0001c0001t0001g0252	4	226	0.0177	-95	c.624 others(112): Show c.624+8691_624+8785delGGGGGGGTAGGGAGGATTTCAGGTAGGG GGTAGGGAGGATTTCAGGTGGAGAGGTAGACAGGATTTCAGGTTGGGGGG TAGGGAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LOC400499_chr16_11367015_11532247	11471997	AGCACTGC others(88): Show AGCACTGCTGACATTTGGGATCAGATCATCTTATTTGGGGGCTGTCCTGT GCATTATGGGATGTTTCGCTGAATCCTGGATCCCCATCCACTAGAT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0191 a0191	a0191c0239 a0191c0239	a0191c0239t0001 a0191c0239t0001	a0191c0239t0001g0236 a0191c0239t0001g0236	1	308	0.0032	-95	c.282 others(112): Show c.2825-275_2825-181delATCTAGTGGATGGGGATCCAGGATTCAG CGAAACATCCCATAATGCACAGGACAGCCCCCAAATAAGATGATCTGATC CCAAATGTCAGCAGTGC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	20/66			chr16	TogoVar
LRRC75B_chr22_24580635_24598073	24592725	TGCGCGCG others(88): Show TGCGCGCGCCAGAGACCAGCTCCGCCTCGCCTCCCGGCGGATACAGGCCC ACAACCCATAGCCCCGCGCCTCCCAGACCCCCAGACCCCCAGACCC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	460	0.0022	-95	c.177 others(109): Show c.177+43_177+137delGGGTCTGGGGGTCTGGGGGTCTGGGAGGCGC GGGGCTATGGGTTGTGGGCCTGTATCCGCCGGGAGGCGAGGCGGAGCTGG TCTCTGGCGCGCGC	LRRC75B	ENSG00000178026.13	transcript	ENST00000318753.13	protein_coding	1/3			chr22	TogoVar
MAP3K15_chrX_19355059_19520508	19469284	AAACAAGC others(88): Show AAACAAGCAATGGGGAAAGGAGTCCCTATTTAATAAATGGTGCTGGGAAA ACTGGCTAGCCATATGGAGAAAGCTGAAACTGGATCCCTTCCTTAC	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	161	0.0062	-95	c.526 others(112): Show c.526-4973_526-4879delGTAAGGAAGGGATCCAGTTTCAGCTTTC TCCATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGACTCC TTTCCCCATTGCTTGTT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K4_chr6_160986769_161122380	161090360	CAGGGCAG others(88): Show CAGGGCAGGGCTTCTCAGCCTCTTGGATGTGGACGTTTGGGCCCGTAACT CTTGGTCGTGGAGGGCCGTCCTGCGCATTGTAGGATGTTTAGAGCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	340	0.0029	-95	c.297 others(112): Show c.2974-953_2974-859delCGTCCTGCGCATTGTAGGATGTTTAGAG CTAGGGCAGGGCTTCTCAGCCTCTTGGATGTGGACGTTTGGGCCCGTAAC TCTTGGTCGTGGAGGGC	MAP3K4	ENSG00000085511.20	transcript	ENST00000392142.9	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
MARS1_chr12_57483068_57521652	57507662	GCCCCCCA others(88): Show GCCCCCCACCTCCCTCCCGGACGGGACGGCTGGCCGGGCGGGGGTCTGGC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02071.hp2 NA18950.hp2 others(3): Show HG00408.hp2 HG02071.hp2 NA18950.hp2 NA18957.hp1 NA18980.hp1 NA19003.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0164 a0001c0004t0001g0166 a0001c0004t0001g0167 others(3): Show a0001c0004t0001g0164 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0001g0170	6	286	0.0210	-95	c.136 others(114): Show c.1368+3388_1368+3482delACGGCTGGCCGGGCGGGGGTCTGGCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCC CACCTCCCTCCCGGACGGG	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MEAK7_chr16_84471355_84509659	84479390	GCTAATGC others(88): Show GCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCAGC GGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01192.hp2 HG01243.hp2 others(19): Show HG00735.hp1 HG01192.hp2 HG01243.hp2 HG02148.hp2 HG02293.hp2 HG02523.hp1 HG02738.hp2 HG02965.hp1 HG03516.hp2 HG03927.hp2 NA18940.hp2 NA18945.hp1 NA18946.hp2 NA18966.hp1 NA18994.hp2 NA19043.hp1 NA19054.hp2 NA19062.hp1 NA19078.hp2 NA19082.hp1 NA19090.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0016	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0016c0034	a0001c0001t0012 a0001c0001t0016 a0001c0001t0055 others(11): Show a0001c0001t0012 a0001c0001t0016 a0001c0001t0055 a0001c0001t0074 a0001c0001t0119 a0001c0001t0164 a0001c0001t0166 a0001c0001t0220 a0001c0002t0012 a0001c0002t0165 a0002c0003t0120 a0002c0003t0162 a0003c0004t0163 a0016c0034t0167	a0001c0001t0012g0261 a0001c0001t0012g0408 a0001c0001t0016g0235 others(19): Show a0001c0001t0012g0261 a0001c0001t0012g0408 a0001c0001t0016g0235 a0001c0001t0016g0237 a0001c0001t0016g0239 a0001c0001t0016g0247 a0001c0001t0055g0173 a0001c0001t0055g0395 a0001c0001t0074g0145 a0001c0001t0119g0042 a0001c0001t0164g0354 a0001c0001t0166g0111 a0001c0001t0220g0387 a0001c0002t0012g0225 a0001c0002t0012g0271 a0001c0002t0012g0272 a0001c0002t0012g0302 a0001c0002t0165g0273 a0002c0003t0120g0134 a0002c0003t0162g0379 a0003c0004t0163g0324 a0016c0034t0167g0339	22	71	0.3099	-95	c.42 others(104): Show c.428_*522delGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCATT AGGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCATTAGGGAATTCCGC TGGCATTAG	MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	8/8	428		chr16	TogoVar
MECOM_chr3_169078507_169668712	169472485	AAGGAAAG others(88): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAAGAAAAGAA AAGGAAAGGAAAGGAAAAGAAAAGAGAGGAGAGGAGAGGAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0095 a0001c0001t0008g0095	1	160	0.0063	-95	c.38- others(112): Show c.38-91056_38-90962delCTCCTCTCCTCTCCTCTCCTCTCTTTTC TTTTCCTTTCCTTTCCTTTTCTTTTCTTTTCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169472585	AAGGAAAG others(88): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAAGAAAAGAAAAGAA AAGGAAAGGAAAGGAAAAGAAAAGAAAGGAAAGGAAAGGAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG02451.hp2 others(7): Show HG01243.hp1 HG01255.hp2 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03139.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0034 a0001c0004t0008 a0001c0004t0010 a0002c0002t0004	a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0131 others(7): Show a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0006g0104 a0001c0001t0008g0094 a0001c0001t0034g0152 a0001c0004t0008g0090 a0001c0004t0010g0145 a0002c0002t0004g0014	10	160	0.0625	-95	c.38- others(112): Show c.38-91156_38-91062delCTCCTCTCCTTTCCTTTCCTTTCTTTTC TTTTCCTTTCCTTTCCTTTTCTTTTCTTTTCTTTTCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151368604	TATTTTAT others(88): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTT CATTTCATTTCATTTCATTTCATGTCATTTCATTTTATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02074.hp2 NA18977.hp2 HG00673.hp2 HG02074.hp2 NA18977.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0004 a0002c0003t0001 a0002c0003t0004	a0002c0003t0001g0219 a0002c0003t0004g0053 a0002c0003t0004g0078 a0002c0003t0001g0219 a0002c0003t0004g0053 a0002c0003t0004g0078	3	248	0.0121	-95	c.355 others(112): Show c.3550+358_3550+452delTATTTTATTTTATTTTATTTTATTTCAT TTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATGTCATTTCAT TTTATTTCATTTCATTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MEGF6_chr1_3482951_3616508	3572169	TCCTGGGT others(88): Show TCCTGGGTGTGCTGGGTCCTCCTGGGTGTGCTGGGTCCTTCCTGAGTGTG CTAGGTCCTTCCCGAGTGTGCTGGGTTCTCTCAGGTGTGCTGGGTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0031 a0031	a0031c0042 a0031c0042	a0031c0042t0033 a0031c0042t0033	a0031c0042t0033g0281 a0031c0042t0033g0281	1	290	0.0034	-95	c.481 others(112): Show c.481+7561_481+7655delGACCCAGCACACCTGAGAGAACCCAGCA CACTCGGGAAGGACCTAGCACACTCAGGAAGGACCCAGCACACCCAGGAG GACCCAGCACACCCAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MTUS2_chr13_28815339_29510947	29375528	TATATATA others(88): Show TATATATATACGTGTATATATATATATATACGTATATATATATATACATA TATATATATACGTATATATATATATATATACGTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp2 HG02258.hp2 others(6): Show HG00735.hp1 HG01891.hp2 HG02258.hp2 HG02615.hp1 HG03130.hp2 HG03225.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0007	a0002c0002 a0003c0003 a0003c0009 others(3): Show a0002c0002 a0003c0003 a0003c0009 a0004c0020 a0006c0007 a0007c0004	a0002c0002t0003 a0002c0002t0004 a0002c0002t0010 others(5): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0010 a0003c0003t0004 a0003c0009t0029 a0004c0020t0001 a0006c0007t0002 a0007c0004t0001	a0002c0002t0003g0012 a0002c0002t0004g0008 a0002c0002t0004g0058 others(6): Show a0002c0002t0003g0012 a0002c0002t0004g0008 a0002c0002t0004g0058 a0002c0002t0010g0064 a0003c0003t0004g0061 a0003c0009t0029g0005 a0004c0020t0001g0017 a0006c0007t0002g0060 a0007c0004t0001g0089	9	85	0.1059	-95	c.311 others(116): Show c.3117+16056_3117+16150delATATATATACGTGTATATATATAT ATATACGTATATATATATATACATATATATATATACGTATATATATATAT ATATACGTATATATATATATA	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15			chr13	TogoVar
MUSK_chr9_110663791_110811558	110701675	ATTTTTTT others(88): Show ATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0033	1	311	0.0032	-95	c.628 others(112): Show c.628+4213_628+4307delTTTTTACTTTACTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYH14_chr19_50198622_50315540	50219694	CAGGTTGT others(88): Show CAGGTTGTACACTGAACAAGGGTATCCATCCAAGGGGCTGCCATTCATAC CATGACAACATAGATCAGTCCTGGCAGAATTACATGATTAACATCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02818.hp2 HG02145.hp1 HG02258.hp2 HG02818.hp2	a0001 a0007 a0012 a0001 a0007 a0012	a0001c0039 a0007c0036 a0012c0042 a0001c0039 a0007c0036 a0012c0042	a0001c0039t0001 a0007c0036t0001 a0012c0042t0001 a0001c0039t0001 a0007c0036t0001 a0012c0042t0001	a0001c0039t0001g0023 a0007c0036t0001g0024 a0012c0042t0001g0025 a0001c0039t0001g0023 a0007c0036t0001g0024 a0012c0042t0001g0025	3	296	0.0101	-95	c.562 others(112): Show c.562+1925_562+2019delGGTTGTACACTGAACAAGGGTATCCATC CAAGGGGCTGCCATTCATACCATGACAACATAGATCAGTCCTGGCAGAAT TACATGATTAACATCTA	MYH14	ENSG00000105357.20	transcript	ENST00000642316.2	protein_coding	3/42		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYZAP_chr15_57586904_57690364	57687498	TATGTGTG others(88): Show TATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATA TATGTGTGTACAATATACACATATATATGTGTGTACAATATACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	350	0.0029	-95	c.30 others(106): Show c.3001_*3095delATGTGTGTACAATATACACATATATATGTGTGTA CAATATACACATATATATGTGTGTACAATATACACATATATATGTGTGTA CAATATACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2135		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688209	TGTGTGTA others(88): Show TGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATATT ATGTGTGTACAATATACACATATATTATGTGTGTACAATATACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03195.hp2 NA20300.hp2 HG01891.hp1 HG03195.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0003 a0001c0003t0004 a0002c0002t0003	a0001c0003t0004g0111 a0001c0003t0004g0114 a0002c0002t0003g0124 a0001c0003t0004g0111 a0001c0003t0004g0114 a0002c0002t0003g0124	3	338	0.0089	-95	c.37 others(106): Show c.3712_*3806delGTGTGTACAATATACACATATATATGTGTGTACA ATATACACATATATTATGTGTGTACAATATACACATATATTATGTGTGTA CAATATACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2846		chr15	TogoVar
NAA16_chr13_41306267_41382030	41356373	TATCTTAG others(88): Show TATCTTAGTGTGCATCTCTATTTAAAACACGTAAACAGAAGAAGTCATCG CAGTGCCATGTCACACAAAACCTCATAACATAATATCTGATACCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(329): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0005 a0001c0006 others(13): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0013 a0001c0017 a0002c0003 a0002c0014 a0003c0004 a0004c0015 a0005c0007 a0006c0010 a0007c0018 a0008c0012 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0005t0001 a0001c0006t0001 a0001c0009t0002 a0001c0011t0014 a0001c0013t0015 a0001c0017t0006 a0002c0003t0005 a0002c0014t0005 a0003c0004t0003 a0004c0015t0003 a0005c0007t0003 a0006c0010t0002 a0007c0018t0008 a0008c0012t0001 a0009c0008t0026	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(300): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0310 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0004g0001 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0139 a0001c0001t0004g0151 a0001c0001t0006g0010 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0006g0090 a0001c0001t0008g0084 a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0089 a0001c0001t0008g0092 a0001c0001t0008g0142 a0001c0001t0008g0143 a0001c0001t0008g0144 a0001c0001t0008g0145 a0001c0001t0010g0135 a0001c0001t0010g0136 a0001c0001t0010g0137 a0001c0001t0010g0138 a0001c0001t0010g0152 a0001c0001t0011g0104 a0001c0001t0011g0105 a0001c0001t0011g0118 a0001c0001t0011g0119 a0001c0001t0012g0003 a0001c0001t0012g0014 a0001c0001t0012g0110 a0001c0001t0013g0019 a0001c0001t0013g0182 a0001c0001t0013g0258 a0001c0001t0017g0214 a0001c0001t0018g0129 a0001c0001t0019g0268 a0001c0001t0020g0140 a0001c0001t0021g0299 a0001c0001t0022g0009 a0001c0001t0023g0265 a0001c0001t0024g0141 a0001c0001t0025g0270 a0001c0005t0001g0248 a0001c0006t0001g0205 a0001c0009t0002g0284 a0001c0011t0014g0154 a0001c0013t0015g0153 a0001c0017t0006g0091 a0002c0003t0005g0034 a0002c0003t0005g0035 a0002c0003t0005g0036 a0002c0003t0005g0038 a0002c0003t0005g0039 a0002c0003t0005g0040 a0002c0003t0005g0041 a0002c0003t0005g0042 a0002c0003t0005g0043 a0002c0003t0005g0044 a0002c0003t0005g0045 a0002c0003t0005g0046 a0002c0003t0005g0047 a0002c0003t0005g0048 a0002c0003t0005g0049 a0002c0003t0005g0050 a0002c0014t0005g0037 a0003c0004t0003g0095 a0003c0004t0003g0098 a0004c0015t0003g0148 a0005c0007t0003g0003 a0006c0010t0002g0232 a0007c0018t0008g0088 a0008c0012t0001g0243 a0009c0008t0026g0078	332	354	0.9379	-95	c.108 others(114): Show c.1087+1253_1087+1347delATCTTAGTGTGCATCTCTATTTAAAA CACGTAAACAGAAGAAGTCATCGCAGTGCCATGTCACACAAAACCTCATA ACATAATATCTGATACCCA	NAA16	ENSG00000172766.19	transcript	ENST00000379406.8	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
NAA40_chr11_63934002_63962319	63944168	AAAATAGT others(88): Show AAAATAGTGGGTAGAACTGATTCTGAGAACTTCCCCAGCATCTGGTTTTT CAACTCATGCAGAAGGTTAATCGCTCTGAGTGTCCTTTCCTGGGGC	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	296	0.0034	-95	c.7-1 others(108): Show c.7-1671_7-1577delAAATAGTGGGTAGAACTGATTCTGAGAACTTC CCCAGCATCTGGTTTTTCAACTCATGCAGAAGGTTAATCGCTCTGAGTGT CCTTTCCTGGGGC	NAA40	ENSG00000110583.13	transcript	ENST00000377793.9	protein_coding	1/7			chr11	TogoVar
NAA60_chr16_3438680_3491953	3469230	CCCCAGCA others(88): Show CCCCAGCACTGCCCTGGTACCCATCCTGTTTAGAGGGCTCAGAGCAGAGA GCACCTGCCTGGCAGGGCCCGTCTCTGACTTTGCCTTGCTGCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00621.hp2 others(66): Show HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp2 HG01256.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp2 HG02273.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02886.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18951.hp2 NA18954.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18989.hp2 NA18998.hp2 NA19003.hp1 NA19009.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19084.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0003c0004	a0001c0001t0002 a0001c0001t0036 a0001c0002t0002 others(8): Show a0001c0001t0002 a0001c0001t0036 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0027 a0001c0002t0032 a0001c0002t0037 a0001c0006t0002 a0003c0004t0002	a0001c0001t0002g0278 a0001c0001t0036g0071 a0001c0002t0002g0006 others(61): Show a0001c0001t0002g0278 a0001c0001t0036g0071 a0001c0002t0002g0006 a0001c0002t0002g0008 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0122 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0200 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0239 a0001c0002t0002g0253 a0001c0002t0002g0255 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0273 a0001c0002t0002g0277 a0001c0002t0002g0279 a0001c0002t0002g0283 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0320 a0001c0002t0006g0076 a0001c0002t0006g0080 a0001c0002t0006g0081 a0001c0002t0006g0082 a0001c0002t0006g0085 a0001c0002t0006g0086 a0001c0002t0006g0087 a0001c0002t0006g0108 a0001c0002t0006g0136 a0001c0002t0006g0137 a0001c0002t0006g0319 a0001c0002t0008g0272 a0001c0002t0012g0026 a0001c0002t0012g0027 a0001c0002t0012g0028 a0001c0002t0027g0276 a0001c0002t0032g0006 a0001c0002t0037g0089 a0001c0006t0002g0132 a0003c0004t0002g0274	69	374	0.1845	-95	c.-6- others(110): Show c.-6-6970_-6-6876delATCCTGTTTAGAGGGCTCAGAGCAGAGAGC ACCTGCCTGGCAGGGCCCGTCTCTGACTTTGCCTTGCTGCTCCTCCCAGC ACTGCCCTGGTACCC	NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NAA60_chr16_3438680_3491953	3469422	CCAGCACT others(88): Show CCAGCACTGCCCTGGTACCCATCCTGTTTGGAGGGCTCAGAGCAGAGAGC ACCTGCCTGGCGGGGCCTGTCTCTGACTTTGCCTTGCTGCTCCGCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp2 HG03453.hp1 others(1): Show HG01891.hp2 HG02572.hp2 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0189 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0189 a0001c0001t0001g0209 a0001c0001t0001g0210	4	355	0.0113	-95	c.-6- others(110): Show c.-6-6740_-6-6646delCGGGGCCTGTCTCTGACTTTGCCTTGCTGC TCCGCACAGCACTGCCCTGGTACCCATCCTGTTTGGAGGGCTCAGAGCAG AGAGCACCTGCCTGG	NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NAA60_chr16_3438680_3491953	3469519	AGCACTGC others(88): Show AGCACTGCCCTGGTACCCATCCTGTTTGGAGGGCTCAGAGCAGAGAGCAC CTGCCTGGTGGGGCCTGTCTCTGACTTTGCCTTGCTGCTCCGCACT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00621.hp2 others(72): Show HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp2 HG01256.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18951.hp2 NA18954.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18989.hp2 NA18998.hp2 NA19003.hp1 NA19009.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19084.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0003c0004	a0001c0001t0002 a0001c0001t0036 a0001c0002t0002 others(8): Show a0001c0001t0002 a0001c0001t0036 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0027 a0001c0002t0032 a0001c0002t0037 a0001c0006t0002 a0003c0004t0002	a0001c0001t0002g0278 a0001c0001t0036g0071 a0001c0002t0002g0006 others(66): Show a0001c0001t0002g0278 a0001c0001t0036g0071 a0001c0002t0002g0006 a0001c0002t0002g0008 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0122 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0200 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0239 a0001c0002t0002g0253 a0001c0002t0002g0255 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0273 a0001c0002t0002g0277 a0001c0002t0002g0279 a0001c0002t0002g0283 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0320 a0001c0002t0006g0011 a0001c0002t0006g0047 a0001c0002t0006g0048 a0001c0002t0006g0049 a0001c0002t0006g0050 a0001c0002t0006g0076 a0001c0002t0006g0080 a0001c0002t0006g0081 a0001c0002t0006g0082 a0001c0002t0006g0085 a0001c0002t0006g0086 a0001c0002t0006g0087 a0001c0002t0006g0108 a0001c0002t0006g0136 a0001c0002t0006g0137 a0001c0002t0006g0319 a0001c0002t0008g0272 a0001c0002t0012g0026 a0001c0002t0012g0027 a0001c0002t0012g0028 a0001c0002t0027g0276 a0001c0002t0032g0006 a0001c0002t0037g0089 a0001c0006t0002g0132 a0003c0004t0002g0274	75	374	0.2005	-95	c.-6- others(110): Show c.-6-6685_-6-6591delATCCTGTTTGGAGGGCTCAGAGCAGAGAGC ACCTGCCTGGTGGGGCCTGTCTCTGACTTTGCCTTGCTGCTCCGCACTGC ACTGCCCTGGTACCC	NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NAA60_chr16_3438680_3491953	3469537	ATCCTGTT others(88): Show ATCCTGTTTGGAGGGCTCAGAGCAGAGAGCACCTGCCTGGTGGGGCCTGT CTCTGACTTTGCCTTGCTGCTCCGCACTGCACTGCCCTGGTACCCG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	356	0.0028	-95	c.-6- others(110): Show c.-6-6645_-6-6551delTGGGGCCTGTCTCTGACTTTGCCTTGCTGC TCCGCACTGCACTGCCCTGGTACCCGTCCTGTTTGGAGGGCTCAGAGCAG AGAGCACCTGCCTGG	NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NCOR2_chr12_124319415_124572612	124358215	TGTGTGTG others(88): Show TGTGTGTGTGAGTGCATGGATGTGTGTATGTGCCTGTACACAATGTTGAA GGACGTAACCTGTGATGTGTGTATGTGCACGTGCACGTGTATGTGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02717.hp2 others(3): Show HG02559.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG03209.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0087 a0002c0107 a0002c0108 others(3): Show a0001c0087 a0002c0107 a0002c0108 a0002c0121 a0003c0072 a0005c0064	a0001c0087t0067 a0002c0107t0037 a0002c0108t0028 others(3): Show a0001c0087t0067 a0002c0107t0037 a0002c0108t0028 a0002c0121t0028 a0003c0072t0062 a0005c0064t0028	a0001c0087t0067g0126 a0002c0107t0037g0169 a0002c0108t0028g0162 others(3): Show a0001c0087t0067g0126 a0002c0107t0037g0169 a0002c0108t0028g0162 a0002c0121t0028g0117 a0003c0072t0062g0136 a0005c0064t0028g0161	6	232	0.0259	-95	c.310 others(114): Show c.3101-1528_3101-1434delGCACATACACGTGCACGTGCACATAC ACACATCACAGGTTACGTCCTTCAACATTGTGTACAGGCACATACACACA TCCATGCACTCACACACAC	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	24/48			chr12	TogoVar
NGB_chr14_77260483_77276206	77269709	TCTCTCTC others(88): Show TCTCTCTCTCTCTCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTCTCCCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	361	0.0028	-95	c.90- others(108): Show c.90-478_90-384delGGGGGGGGGGAGAGGGAGAGGGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGA GAGAGAGAGAGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NLRP8_chr19_55942832_55993629	55993512	CCTCCCCT others(88): Show CCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCTCTCCCCTCCTCTCCTCCCCCCTCCTCCTCTCAACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0201 a0003c0004t0001g0201	1	343	0.0029	-95	c.56 others(106): Show c.5600_*5694delCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCTCTCCCCTCCTCTCCTCCCCCCTCCT CCTCTCAACCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4884		chr19	TogoVar
NME7_chr1_169127531_169372797	169342525	TATACAAG others(88): Show TATACAAGTACATATATATAGTATATATATATATACAAGTACATATATAT AGTATATATATATATACAAGTACATATATATAGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0256 a0001c0002t0001g0256	1	242	0.0041	-95	c.4-1 others(110): Show c.4-18120_4-18026delGTATATATATATACTATATATATGTACTTG TATATATATATATACTATATATATGTACTTGTATATATATATATACTATA TATATGTACTTGTAT	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME7_chr1_169127531_169372797	169355134	TATAATAT others(88): Show TATAATATATAATATACTATATATTATAGATATAATATATAATATACTAT ATATTATAGATATAATATATAATATATATTATATATTATAGATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG02056.hp2 others(5): Show HG00438.hp1 HG00673.hp2 HG02056.hp2 HG02165.hp1 HG02523.hp2 NA18951.hp1 NA18995.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(5): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0227 a0001c0001t0002g0223	8	249	0.0321	-95	c.3+1 others(110): Show c.3+12479_3+12573delTATATCTATAATATATAATATATATTATAT ATTATATCTATAATATATAGTATATTATATATTATATCTATAATATATAG TATATTATATATTAT	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NPY4R_chr10_46456099_46470958	46466193	TTCTTTCT others(88): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG01516.hp1 others(5): Show HG00741.hp2 HG01109.hp2 HG01516.hp1 HG02109.hp2 HG02630.hp1 HG03130.hp2 NA19030.hp1 NA19043.hp1	a0002 a0002	a0002c0005 a0002c0007 a0002c0009 others(1): Show a0002c0005 a0002c0007 a0002c0009 a0002c0011	a0002c0005t0001 a0002c0007t0001 a0002c0009t0001 others(1): Show a0002c0005t0001 a0002c0007t0001 a0002c0009t0001 a0002c0011t0001	a0002c0005t0001g0038 a0002c0007t0001g0010 a0002c0007t0001g0036 others(2): Show a0002c0005t0001g0038 a0002c0007t0001g0010 a0002c0007t0001g0036 a0002c0009t0001g0035 a0002c0011t0001g0039	8	290	0.0276	-95	c.-82 others(104): Show c.-826_-732delGAGAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGA	NPY4R	ENSG00000204174.8	transcript	ENST00000374312.5	protein_coding		236		chr10	TogoVar
NTSR1_chr20_62703836_62767771	62758003	CGTCTCTG others(88): Show CGTCTCTGTGCCTCAGGTGCAGTGGGTCTCTGAGCCCATGTCCTGTCTCT GAGCCCACGTCTCTGTGCCTCAGGTGCAGTGGGTCTCTGAGCCCAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	314	0.0032	-95	c.917 others(110): Show c.917-225_917-131delTGTCCTGTCTCTGAGCCCACGTCTCTGTGC CTCAGGTGCAGTGGGTCTCTGAGCCCATGTCTCTGTGCCTCAGGTGCAGT GGGTCTCTGAGCCCA	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NXN_chr17_794310_984776	948922	CCTCCTCC others(88): Show CCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC CCCGCGGGCTCCTCCTCTCCCCCCGGGCTCCTCCTCTCCCCCCGGG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG01928.hp2 others(6): Show HG00597.hp1 HG00639.hp1 HG01928.hp2 HG02132.hp1 HG03927.hp2 NA18747.hp1 NA18951.hp1 NA18984.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0029	a0001c0001t0001g0187 a0001c0001t0001g0211 a0001c0001t0002g0188 others(6): Show a0001c0001t0001g0187 a0001c0001t0001g0211 a0001c0001t0002g0188 a0001c0001t0003g0085 a0001c0001t0003g0208 a0001c0001t0004g0096 a0001c0001t0005g0031 a0001c0001t0016g0001 a0001c0001t0029g0134	9	240	0.0375	-95	c.360 others(114): Show c.360+30302_360+30396delCCCGGGGGGAGAGGAGGAGCCCGGGG GGAGAGGAGGAGCCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948989	TCCCCCCG others(88): Show TCCCCCCGGGCTCCTCCTCTCCCCCCGGGCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	216	0.0046	-95	c.360 others(114): Show c.360+30235_360+30329delGAGAGGAGGAGGCCGCGGGGAGAGGA GGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGCCCGGGGGG AGAGGAGGAGCCCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949394	GGCCTCCT others(88): Show GGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCGCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0234 a0001c0003t0004g0234	1	120	0.0083	-95	c.360 others(114): Show c.360+29830_360+29924delAGCGGGGAGAGGAGGAGGCCGCGGGG AGAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC CACGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODF3L2_chr19_458361_479983	466906	GATGGACG others(88): Show GATGGACGGGTGGATAGATGGTTGGGTGGAGGGTGGATGGGCGGGTGGAT AGATGGATGGGTGGGTGGTTGGGTGGGTGGGTAGATGGATGAGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp2 others(36): Show HG00140.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01070.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01981.hp1 HG02071.hp2 HG02155.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02717.hp2 HG02895.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp1 NA19007.hp1 NA19068.hp1 NA20129.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0013	a0001c0002 a0001c0012 a0002c0001 others(3): Show a0001c0002 a0001c0012 a0002c0001 a0004c0006 a0008c0014 a0013c0023	a0001c0002t0001 a0001c0012t0001 a0002c0001t0001 others(4): Show a0001c0002t0001 a0001c0012t0001 a0002c0001t0001 a0004c0006t0001 a0008c0014t0006 a0008c0014t0007 a0013c0023t0001	a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0026 others(13): Show a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0026 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0159 a0001c0002t0001g0164 a0001c0012t0001g0171 a0002c0001t0001g0156 a0004c0006t0001g0153 a0004c0006t0001g0158 a0008c0014t0006g0148 a0008c0014t0007g0138 a0013c0023t0001g0157	39	322	0.1211	-95	c.349 others(110): Show c.349+648_349+742delACACTCATCCATCTACCCACCCACCCAACC ACCCACCCATCCATCTATCCACCCGCCCATCCACCCTCCACCCAACCATC TATCCACCCGTCCAT	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	3/3			chr19	TogoVar
OR4B1_chr11_48211810_48222739	48216321	CATTTCTG others(88): Show CATTTCTGGGGAGTAAATAAATGGAGGAAACAAAAGAGTCAGGAGCAGAA GGTCACTATACAATCTCTAACACAAAGACATGACCAGAGAAAATGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	429	0.0023	-95	c.-48 others(104): Show c.-488_-394delATTTCTGGGGAGTAAATAAATGGAGGAAACAAAAGA GTCAGGAGCAGAAGGTCACTATACAATCTCTAACACAAAGACATGACCAG AGAAAATGG	OR4B1	ENSG00000175619.3	transcript	ENST00000309562.3	protein_coding		488		chr11	TogoVar
OSBPL2_chr20_62233521_62301183	62278471	CTGTTGCC others(88): Show CTGTTGCCAACATTAGGCCAAGTGCGATGTCATGTTTATGTGTGTGTTGC CAACGTTAGGCCGAGTGCGATGTCATGTTTGTGTGTGTGTCTGTTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	346	0.0029	-95	c.492 others(110): Show c.492-685_492-591delTGTTGCCAACATTAGGCCAAGTGCGATGTC ATGTTTATGTGTGTGTTGCCAACGTTAGGCCGAGTGCGATGTCATGTTTG TGTGTGTGTCTGTTG	OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	6/13			chr20	TogoVar
P2RY12_chr3_151331843_151389753	151368604	TATTTTAT others(88): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTT CATTTCATTTCATTTCATTTCATGTCATTTCATTTTATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG02074.hp2 others(6): Show HG00597.hp1 HG00673.hp2 HG02074.hp2 NA18948.hp1 NA18977.hp2 NA18983.hp2 NA18992.hp2 NA19057.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0095 a0001c0001t0001g0096 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0169	9	352	0.0256	-95	c.-18 others(116): Show c.-180+15993_-180+16087delGAAATGAAATAAAATGAAATGACA TGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAATAAAA TAAAATAAAATAAAATAAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
PACS2_chr14_105309748_105403147	105352874	GCCTCATC others(88): Show GCCTCATCACTGTCCCCTGGGGTGACGGGCCCCCTCATCACTGTCCCCTG GGGAGATGGGCCCCCCTCATCAGTGTCCCCTGGGGAGACGGGCACC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02055.hp1 HG02922.hp2 others(1): Show HG00639.hp2 HG02055.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0015 a0001c0006t0028 a0001c0006t0010 a0001c0006t0015 a0001c0006t0028	a0001c0006t0010g0015 a0001c0006t0010g0017 a0001c0006t0015g0187 others(1): Show a0001c0006t0010g0015 a0001c0006t0010g0017 a0001c0006t0015g0187 a0001c0006t0028g0060	4	208	0.0192	-95	c.297 others(110): Show c.297+463_297+557delTGGGCCCCCCTCATCAGTGTCCCCTGGGGA GACGGGCACCCCTCATCACTGTCCCCTGGGGTGACGGGCCCCCTCATCAC TGTCCCCTGGGGAGA	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCBP3_chr21_45638725_45947450	45810960	AATCTCAC others(88): Show AATCTCACATTATCATTTTAATATCTACCGGATCAGTACTGACAACTTGT CTTTCATATCTTTTGTGATTTTTGTTTTCTTTTTCTCTTGGTCTAG	A A	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	290	0.0034	-95	c.-12 others(116): Show c.-125-39000_-125-38906delATCTCACATTATCATTTTAATATC TACCGGATCAGTACTGACAACTTGTCTTTCATATCTTTTGTGATTTTTGT TTTCTTTTTCTCTTGGTCTAG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17			chr21	TogoVar
PDCD6_chr5_266646_319974	302345	GGCACAGC others(88): Show GGCACAGCTTCCCTGCATAACTGCTGGAGGGTGGGTCGTGGAGTGCTGCT CTGTGTGTATGCCTCAGGTTCAGGTGCACCTGCCTTTGTGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02074.hp2 HG02015.hp1 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0260 a0001c0001t0001g0242 a0001c0001t0001g0260	2	358	0.0056	-95	c.164 others(112): Show c.164-1801_164-1707delTGGGTCGTGGAGTGCTGCTCTGTGTGTA TGCCTCAGGTTCAGGTGCACCTGCCTTTGTGGGGAGAGCACAGCTTCCCT GCATAACTGCTGGAGGG	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	302382	GTGGAGTG others(88): Show GTGGAGTGCTGCTCTGTGTGTATGCCTCAGGTTCAGGTGCACCTGCCTTT GTGGGGAGAGCACAGCTTCCCTGCATAACTGCTGGAGGGCGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01099.hp2 others(47): Show HG00735.hp1 HG01081.hp2 HG01099.hp2 HG01169.hp1 HG01261.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0004t0002 a0002c0004t0003 a0003c0005t0004	a0001c0001t0002g0009 a0001c0001t0002g0066 a0001c0001t0002g0067 others(43): Show a0001c0001t0002g0009 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0003g0071 a0001c0001t0005g0020 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0002c0004t0002g0267 a0002c0004t0003g0019 a0002c0004t0003g0265 a0002c0004t0003g0266 a0002c0004t0003g0273 a0002c0004t0003g0276 a0002c0004t0003g0277 a0002c0004t0003g0278 a0002c0004t0003g0279 a0002c0004t0003g0280 a0002c0004t0003g0288 a0002c0004t0003g0294 a0003c0005t0004g0021 a0003c0005t0004g0303 a0003c0005t0004g0304 a0003c0005t0004g0305 a0003c0005t0004g0306 a0003c0005t0004g0307	50	358	0.1397	-95	c.164 others(112): Show c.164-1782_164-1688delCTGTGTGTATGCCTCAGGTTCAGGTGCA CCTGCCTTTGTGGGGAGAGCACAGCTTCCCTGCATAACTGCTGGAGGGCG GGTCATGGAGTGCTGCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE6B_chr4_620573_675782	669477	GCCATGCT others(88): Show GCCATGCTATTCCCGCTACCCCATGCTATTCCCACTACCCCATGCTATTC CCGCTACCCCATGCTATTCCCGCTACGCCATGCTATTCCCACTACC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02976.hp2 HG01167.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	2	299	0.0067	-95	c.250 others(112): Show c.2504-536_2504-442delACTACCCCATGCTATTCCCGCTACCCCA TGCTATTCCCGCTACGCCATGCTATTCCCACTACCCCATGCTATTCCCGC TACCCCATGCTATTCCC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PERM1_chr1_970198_987093	976875	CCAACCCC others(88): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02622.hp1 HG02965.hp2 others(2): Show HG00642.hp2 HG02622.hp1 HG02965.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0040 a0001c0001t0002g0023 a0001c0001t0002g0040	5	396	0.0126	-95	c.215 others(112): Show c.2150-346_2150-252delCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAGTGGGA GGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar

Search by Variant

Search

Search Results