Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
NKD2_chr5_1003802_1043943	1024636	TGTGGGCG others(279): Show TGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCA TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTG CTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCA CTCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTG GGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	319	0.0031	-286	c.142 others(17): Show c.142-7515_142-7230del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9						chr5	TogoVar
PBK_chr8_27804624_27842817	27826528	CAAGATCA others(279): Show CAAGATCAGCTATTTGCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCA CGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCAGGGAGGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(132): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01175.hp2 HG01192.hp1 HG01346.hp2 HG01433.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp2 HG03831.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0002c0005 a0003c0004 others(2): Show a0002c0002 a0002c0005 a0003c0004 a0004c0006 a0005c0009	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(5): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0005t0002 a0003c0004t0002 a0004c0006t0002 a0005c0009t0002	a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0013 others(90): Show a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0013 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0028 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0135 a0002c0002t0002g0226 a0002c0002t0004g0007 a0002c0002t0004g0010 a0002c0002t0004g0043 a0002c0002t0004g0044 a0002c0002t0004g0045 a0002c0002t0004g0046 a0002c0002t0004g0047 a0002c0002t0005g0050 a0002c0002t0005g0055 a0002c0002t0005g0056 a0002c0002t0005g0057 a0002c0002t0009g0123 a0002c0002t0009g0124 a0002c0005t0002g0034 a0002c0005t0002g0122 a0002c0005t0002g0129 a0002c0005t0002g0130 a0002c0005t0002g0131 a0002c0005t0002g0132 a0002c0005t0002g0133 a0002c0005t0002g0134 a0003c0004t0002g0014 a0003c0004t0002g0138 a0003c0004t0002g0139 a0003c0004t0002g0140 a0003c0004t0002g0141 a0003c0004t0002g0142 a0003c0004t0002g0143 a0003c0004t0002g0144 a0003c0004t0002g0145 a0004c0006t0002g0033 a0004c0006t0002g0125 a0004c0006t0002g0126 a0004c0006t0002g0127 a0004c0006t0002g0128 a0004c0006t0002g0136 a0004c0006t0002g0137 a0005c0009t0002g0027 a0005c0009t0002g0087	135	392	0.3444	-286	c.152 others(17): Show c.152+1291_152+1576del		PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding	3/7						chr8	TogoVar
PCGF3_chr4_700832_775089	744755	GCCCGGGG others(279): Show GCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0324 a0001c0001t0009g0324	1	366	0.0027	-286	c.462 others(14): Show c.462+93_462+378del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747374	GCCCGGGG others(279): Show GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02056.hp2 HG02630.hp2 others(2): Show HG01884.hp2 HG02056.hp2 HG02630.hp2 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0056 a0001c0001t0004g0288 a0001c0001t0004g0315 others(2): Show a0001c0001t0003g0056 a0001c0001t0004g0288 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0359	5	366	0.0137	-286	c.462 others(17): Show c.462+2694_462+2979del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PERM1_chr1_970198_987093	976715	CCAACCCC others(279): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCC GGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0054 a0003c0003t0004g0054	1	408	0.0025	-286	c.215 others(16): Show c.2150-377_2150-92del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PERM1_chr1_970198_987093	976737	ACTCCCCC others(279): Show ACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCC GGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTC CCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCC CGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03491.hp1 HG03492.hp2 others(2): Show HG01516.hp1 HG03491.hp1 HG03492.hp2 NA18950.hp1 NA18980.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0009 a0003c0003t0004g0009	5	408	0.0123	-286	c.215 others(17): Show c.2150-399_2150-114del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PIAS4_chr19_4002736_4044386	4036820	CAGTCCAC others(279): Show CAGTCCACACCGTCACACACACACGCCCACACCCGCATGCCACACATCCA TACAGTCCACATTCACGTATGCCCATATGCATCCATTCACACGTGTGTAC ACATGCTCACACACACACATTCATAGACTCCACACATGCACACGTGCACA CACACGCACATGCTCGCACACATGCACAGATACACTCACGTCCACACACG CTCAAACATGCGTGCACACCCGGAGGTGCCCAGAGGGGCAGGGTGGGGAG GACCCCTGCAGCTGCCACACTCCCTGCTCTTGTGGGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	334	0.0030	-286	c.114 others(17): Show c.1143-550_1143-265del		PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
PLCG2_chr16_81774291_81967685	81866133	GTGAGCTC others(279): Show GTGAGCTCCAACTGGGGCACCAGCATGAGAGGACGCTGGCCTCTCCCTTG CTCCCAGGATGAGCTCCACTGGGGCACCAGCATGAGAGGACGCTGGCCTC TCCCTTGCTCCCAGGATGAGCTCCACTGGGGCACCAGCATGAGAGGATGC TAGCCTCTCCCTTTCTCCCAGGATGGGCTCCACTGGGGCACCAGCATGAG AGGACGCTGGCCTCTCCCTTGCTCCCAGGTTGAGCTCCACTGGGGCACCA GCATGAGAGGACGCTGGCCTCTCCCTTGCTCCCAGGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0074 a0004c0074	a0004c0074t0025 a0004c0074t0025	a0004c0074t0025g0239 a0004c0074t0025g0239	1	330	0.0030	-286	c.480 others(17): Show c.480-3071_480-2786del		PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	5/32					INFO_REALIGN_3_PRIME	chr16	TogoVar
PLEKHN1_chr1_961482_980865	976715	CCAACCCC others(279): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCC GGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0004 a0008c0016t0004	a0008c0016t0004g0014 a0008c0016t0004g0014	1	422	0.0024	-286	c.21 others(11): Show c.2141_*2426del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					851		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976737	ACTCCCCC others(279): Show ACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCC GGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTC CCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCC CGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG02602.hp1 HG03017.hp2 others(4): Show HG01516.hp1 HG02602.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp1 NA18950.hp2 NA18980.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0004 a0003c0005t0001 a0003c0005t0004 others(1): Show a0002c0002t0004 a0003c0005t0001 a0003c0005t0004 a0003c0005t0008	a0002c0002t0004g0135 a0003c0005t0001g0008 a0003c0005t0004g0052 others(1): Show a0002c0002t0004g0135 a0003c0005t0001g0008 a0003c0005t0004g0052 a0003c0005t0008g0018	7	422	0.0166	-286	c.21 others(11): Show c.2163_*2448del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					873		chr1	TogoVar
PPP6R2_chr22_50338327_50450090	50397617	AGGGGGGC others(279): Show AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGAGTGTGACTTGGGATGGGGGCGGGGGG GCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0009 a0003c0006t0009	a0003c0006t0009g0110 a0003c0006t0009g0110	1	340	0.0029	-286	c.227 others(17): Show c.227+3488_227+3773del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM16_chr1_3064203_3443621	3287335	CAGGATTG others(279): Show CAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAG GATTGCATTTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGAT TGCATTTACCGGGGCTGGAGCCGCCCCTGCCACGCGGGCATCCAGGATTG CATTTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCAT TTACCGGGGCTGGAGCCGCCCCCTGCCACGCGGGCATCCAGGATTGCATT TACCGGGGCTGGAGCTGCCCCTGCCATGCGGGCATCG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0002 a0001c0001t0013g0002	1	210	0.0048	-286	c.438 others(19): Show c.438+43231_438+43516del		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289071	TCCCCCGA others(279): Show TCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0266 a0008c0007t0004g0266	1	290	0.0035	-286	c.166 others(18): Show c.1662+1038_1663-911del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SFXN5_chr2_72937036_73076712	73059625	ACCCCTGC others(279): Show ACCCCTGCATGAAGCAACCTCTAACCCCTAATGCCACCCCTACCCAGGTG CTGTCTCTCACAAACCAGATCAAGCTTTGGTCCATTCCTAACAGAAACAG CTGCCTCTCTAACCTCTTATAATCCACACAGCCCAGACCATTTTCCCATT AAAGACATACATAAGGGAGGCTCACAATGCTGTCCTGGCAAAATTTCACC TCTGAGAATGTAGTCTAAGGAAACAATCCAAGATGTTCAAAGATCTGGTC AGGTGTACATACCAAGGATATTCACTGCTGCATTCTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show HG00438.hp1 HG02071.hp2 HG02602.hp2 HG02647.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp1 NA18747.hp1 NA18948.hp1 NA18957.hp1 NA18959.hp1 NA18966.hp1 NA18977.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19074.hp1 NA19081.hp1 NA19088.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0006 a0001c0006t0007 a0002c0005t0009	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 others(29): Show a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0004g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0003g0203 a0001c0003t0006g0201 a0001c0006t0007g0202 a0002c0005t0009g0002 a0002c0005t0009g0003	32	250	0.1280	-286	c.103 others(17): Show c.103-1315_103-1030del		SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	1/13						chr2	TogoVar
SMYD3_chr1_245744347_246512279	246024386	GAAGTGGA others(279): Show GAAGTGGACAGCATCTAGGAAGGAGATACAGGAAGTGGACAGCATCTAGG AAGAGAGATACAGCAAGTGGACAGCATCTAGGAAGGGAGATACAGCAAGT GGACAGCATCTAGGAAGACAGATACAGCAAGTGGACAGCATCTAGGAAGG GAGATCCAGGAAGTGGACAGCATCTAGGAAGGAGATACAGGAAGTGGGCA GCATCTAGGAAGAGAGATACAGCAAGTGGACAGCATCTAGGAAGGGAGAT ACAGCAAGTGGACAGCATCTAGGAAGGCAGATACAGC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0123 a0002c0007t0001g0123	1	150	0.0067	-286	c.532 others(19): Show c.532-94735_532-94450del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
TMEM184B_chr22_38214291_38278010	38229677	CAAGGCTA others(279): Show CAAGGCTACTCTAGACCACAGGGAGGCCAGCCCAGGAAGCTAGAGCGGCT GGATTGCCAAGGCTACTCTAGACCACAGGGAGGTCAGCCCAGGAAGCTAG AGCGGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGTCAGCCCAGG AAGCTAGAGCGGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGTCA GCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTCTAGACCACAGG GAGGCCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCA	C C	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	354	0.0028	-286	c.525 others(15): Show c.525+706_525+991del		TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	5/8						chr22	TogoVar
TMEM255A_chrX_120253650_120316461	120296765	TATTAAAT others(279): Show TATTAAATATATTATATATCATATATAATATATATGATATATAATATATA TCATATATAATATATATGATATATAATATATATCATATATAATATATAAT ATATTATATATCATATATATTATATATGATATATATAATATTATATATAT ATTATATATAATATTATATATATAATATTATATATATATTATATATAATA TATAATATTATATATATTATATATATATTATATATAATATATAATATTAT ATATATTATATATATATAATATATAATATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01934.hp1 HG02027.hp1 others(10): Show HG00558.hp1 HG01934.hp1 HG02027.hp1 HG02040.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp1 HG02523.hp2 NA18963.hp2 NA18987.hp2 NA19084.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0015 a0001c0006t0001 a0001c0001t0001 a0001c0001t0015 a0001c0006t0001	a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0040 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0015g0039 a0001c0006t0001g0300	13	303	0.0429	-286	c.202 others(17): Show c.202-3000_202-2715del		TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8						chrX	TogoVar
TSHR_chr14_80950621_81151306	81072751	GCTTTGGG others(279): Show GCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAATAAAAAATAAATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02559.hp2 others(20): Show HG02109.hp1 HG02280.hp1 HG02559.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0020 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0018 a0004c0009t0007	a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0236 others(19): Show a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0236 a0001c0001t0003g0074 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0100 a0001c0001t0003g0216 a0001c0001t0005g0001 a0001c0001t0005g0062 a0001c0001t0005g0075 a0001c0001t0005g0105 a0001c0001t0005g0135 a0001c0001t0009g0244 a0001c0001t0016g0242 a0001c0001t0020g0173 a0001c0002t0001g0014 a0001c0002t0005g0245 a0001c0002t0008g0005 a0001c0002t0018g0071 a0004c0009t0007g0102 a0004c0009t0007g0103	23	270	0.0852	-286	c.317 others(17): Show c.317+4424_317+4709del		TSHR	ENSG00000165409.18	transcript	ENST00000298171.7	protein_coding	3/9						chr14	TogoVar
TUBGCP2_chr10_133273635_133313872	133291922	GTGTCCCC others(279): Show GTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAG CCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTC CCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCC CCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCC CATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATG CACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	284	0.0035	-286	c.121 others(17): Show c.1214+291_1214+576del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
USP40_chr2_233470526_233571782	233567788	TTAGTTAT others(279): Show TTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02630.hp1 NA19240.hp2 HG01884.hp1 HG02630.hp1 NA19240.hp2	a0004 a0006 a0004 a0006	a0004c0013 a0006c0006 a0004c0013 a0006c0006	a0004c0013t0003 a0006c0006t0004 a0004c0013t0003 a0006c0006t0004	a0004c0013t0003g0051 a0004c0013t0003g0068 a0006c0006t0004g0041 a0004c0013t0003g0051 a0004c0013t0003g0068 a0006c0006t0004g0041	3	324	0.0093	-286	c.-14 others(11): Show c.-1410_-1125del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					1007		chr2	TogoVar
ZNF516_chr18_76352682_76500242	76394191	GGGTGGTC others(279): Show GGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0029 a0001c0016t0029	a0001c0016t0029g0129 a0001c0016t0029g0129	1	346	0.0029	-286	c.181 others(21): Show c.1811-14174_1811-13889del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(278): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp2 HG00738.hp2 HG01069.hp1 others(15): Show HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01243.hp2 HG01255.hp1 HG02145.hp1 HG02257.hp1 HG02572.hp1 HG03516.hp1 HG03654.hp1 HG03831.hp2 HG04184.hp1 NA18522.hp1 NA18980.hp2 NA19005.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0010 a0028 a0029 others(3): Show a0010 a0028 a0029 a0037 a0038 a0063	a0010c0009 a0028c0024 a0029c0175 others(5): Show a0010c0009 a0028c0024 a0029c0175 a0029c0176 a0029c0187 a0037c0054 a0038c0055 a0063c0180	a0010c0009t0001 a0010c0009t0002 a0028c0024t0001 others(6): Show a0010c0009t0001 a0010c0009t0002 a0028c0024t0001 a0029c0175t0003 a0029c0176t0003 a0029c0187t0003 a0037c0054t0001 a0038c0055t0001 a0063c0180t0001	a0010c0009t0001g0004 a0010c0009t0001g0262 a0010c0009t0001g0323 others(14): Show a0010c0009t0001g0004 a0010c0009t0001g0262 a0010c0009t0001g0323 a0010c0009t0002g0218 a0010c0009t0002g0219 a0010c0009t0002g0291 a0028c0024t0001g0014 a0028c0024t0001g0149 a0028c0024t0001g0150 a0029c0175t0003g0251 a0029c0176t0003g0252 a0029c0187t0003g0083 a0037c0054t0001g0313 a0037c0054t0001g0326 a0038c0055t0001g0043 a0038c0055t0001g0050 a0063c0180t0001g0359	18	368	0.0489	-285	c.340 others(9): Show c.3408_3692del	p.Ala others(15): Show p.Ala1137_Thr1231del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3789/8960	3408/7707	1136/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856221	CGCTGCCC others(278): Show CGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGA GAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCG GGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGAC ATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02056.hp2 HG02056.hp2	a0108 a0108	a0108c0151 a0108c0151	a0108c0151t0001 a0108c0151t0001	a0108c0151t0001g0051 a0108c0151t0001g0051	1	368	0.0027	-285	c.392 others(9): Show c.3922_4206del	p.Ala others(15): Show p.Ala1308_Thr1402del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4303/8960	3922/7707	1308/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAP3_chr1_1287391_1312930	1289837	CCCGTCCC others(278): Show CCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0208 a0002c0006t0005g0208	1	295	0.0034	-285	c.34 others(11): Show c.3442_*3726del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2553		chr1	TogoVar
AMFR_chr16_56356452_56430545	56397889	AATATATA others(278): Show AATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATA TAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAATG TATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCAT TTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAA TATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATA ACTCTATCATTTATAATATATAACTCTATCATTTAT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0319 a0001c0001t0048g0319	1	356	0.0028	-285	c.108 others(19): Show c.1085+3559_1085+3843del		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13						chr16	TogoVar
ARHGAP8_chr22_44747575_44867784	44801024	GCCTCTCC others(278): Show GCCTCTCCCCGCAGCTGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATGT GTGAGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGGGGGCACCTCTCCC CGCAGCTGTCCATGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATGTGTG GGGGGCGCCCCTCCCCGCAGCTGTCCATGTGTGGGGGCGCCTCTCCCCGC AGCTGTCCATGTGTGGGGGCGCCTCTCCCCGCAGCTGTCTATGTGTGAGG GGCGCCTCTCCCCGCAGCTGTCTTTGTGTGGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02109.hp2 HG02615.hp2 others(7): Show HG01934.hp1 HG02109.hp2 HG02615.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp1 HG03139.hp2 HG03209.hp1 HG03579.hp2 NA18522.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0011 a0018 a0023	a0001c0007 a0002c0011 a0006c0027 others(4): Show a0001c0007 a0002c0011 a0006c0027 a0006c0074 a0011c0035 a0018c0073 a0023c0061	a0001c0007t0001 a0002c0011t0005 a0006c0027t0001 others(4): Show a0001c0007t0001 a0002c0011t0005 a0006c0027t0001 a0006c0074t0001 a0011c0035t0001 a0018c0073t0001 a0023c0061t0002	a0001c0007t0001g0058 a0001c0007t0001g0202 a0002c0011t0005g0061 others(7): Show a0001c0007t0001g0058 a0001c0007t0001g0202 a0002c0011t0005g0061 a0006c0027t0001g0314 a0006c0027t0001g0346 a0006c0074t0001g0049 a0011c0035t0001g0001 a0011c0035t0001g0045 a0018c0073t0001g0104 a0023c0061t0002g0015	10	390	0.0256	-285	c.80- others(14): Show c.80-1035_80-751del		ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
CDC16_chr13_114229897_114277723	114231068	CTGCTGCT others(278): Show CTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGA GTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGT GGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGG ATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGG TGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGG TGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02258.hp1 others(8): Show HG01069.hp1 HG01071.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02965.hp2 HG03516.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0007 a0001c0002 a0001c0005 a0001c0007	a0001c0002t0002 a0001c0005t0005 a0001c0007t0002 a0001c0002t0002 a0001c0005t0005 a0001c0007t0002	a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0005t0005g0005 others(1): Show a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0005t0005g0005 a0001c0007t0002g0227	11	380	0.0290	-285	c.-40 others(11): Show c.-4016_-3732del		CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding					3828		chr13	TogoVar
CHCHD6_chr3_126699240_126965420	126862771	ACCTCCTC others(278): Show ACCTCCTCCTCCTCCACCATCACCACCTTCCCCTCTACCACCATCACCAA CTCCCCCTCCTCCACCATCACCACCTCCTCCTCCACCATCACCACCTCCT CCTCCACCATCACTACCTCCTCCTCCTCCACCATCACCACCTCCTCCTCC TCCACCATCACCACCTTCCCCTCTACCACCATCACCAACTCCCCCTCCTC CACCATCACCACCTCCTCCTCCACCATCACCACCTCCTCCTCCACCATCA CTACCTCCTCCTCCTCCACCATCACCACCTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0139 a0005c0006t0001g0139	1	216	0.0046	-285	c.495 others(19): Show c.495+10050_495+10334del		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
DDX51_chr12_132131594_132149319	132134723	CGAGTGTG others(278): Show CGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACG GTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCA CCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGA GTGTGCCCACGGTGCCCACTCCTCCCACCTCTCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0008 a0002c0005t0005g0008	1	334	0.0030	-285	c.42 others(11): Show c.4264_*4548del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1870		chr12	TogoVar
DPP10_chr2_114437641_115850780	115812950	TCTGACTG others(278): Show TCTGACTGGATATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02145.hp2 HG03098.hp2 others(3): Show HG00639.hp1 HG02145.hp2 HG03098.hp2 HG03195.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0007 a0001c0004t0008 a0001c0004t0004 a0001c0004t0007 a0001c0004t0008	a0001c0004t0004g0013 a0001c0004t0004g0021 a0001c0004t0004g0043 others(3): Show a0001c0004t0004g0013 a0001c0004t0004g0021 a0001c0004t0004g0043 a0001c0004t0004g0056 a0001c0004t0007g0055 a0001c0004t0008g0045	6	56	0.1071	-285	c.170 others(19): Show c.1701-1827_1701-1543del		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	19/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML1_chr14_99788413_99947060	99927924	GTGGTGAT others(278): Show GTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp1 NA20300.hp1 HG02451.hp2 HG02809.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0225 a0001c0003t0001g0260 a0001c0004t0001g0255 a0001c0003t0001g0225 a0001c0003t0001g0260 a0001c0004t0001g0255	3	288	0.0104	-285	c.190 others(19): Show c.1909+7062_1909+7346del		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362191	TCCACCAC others(278): Show TCCACCACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCAC CACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCT CCACCACCACCACCACCACCTCCAGCACCACCTCTACCACCACCACCTCC AGCACCACCACCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCAC CACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCA CCTCCAGCACCAGCTCCACCACCTCCTCCTCCACCA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0163 a0001c0001t0076g0163	1	230	0.0044	-285	c.544 others(19): Show c.544-11668_544-11384del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241807602	CACCTTCC others(278): Show CACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0074 a0003c0003t0001g0074	1	314	0.0032	-285	c.34 others(11): Show c.3437_*3721del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3316		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132234880	AGACAGCA others(278): Show AGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGGGTGACAGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG02976.hp1 others(1): Show HG02109.hp1 HG02717.hp2 HG02976.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0019 a0001c0001 a0001c0014 a0001c0019	a0001c0001t0001 a0001c0014t0003 a0001c0019t0003 a0001c0001t0001 a0001c0014t0003 a0001c0019t0003	a0001c0001t0001g0150 a0001c0014t0003g0074 a0001c0014t0003g0146 others(1): Show a0001c0001t0001g0150 a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0019t0003g0145	4	183	0.0219	-285	c.107 others(21): Show c.1077+12745_1077+13029del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842795	CCATCTGC others(278): Show CCATCTGCTCCTCCTGCTTCCGGATCTGCTCCTCCTGCTCCCCCATCTGC TCCTCCTGCTTCCTCATCTGCTCCCCCATCTGCTCCTCCTGCTTCCACAT CTGCTCCTCCTGCTTTCGCATCTGCTCCTCCTGCTCCCCTATCTGCTCCT CCTGCTTCCACATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTGCTCC CCTATCTGCTCCTCCTGCTTCCACATCTGCTCCTCCTGCTTCCGCATCTG CTCCTTCTGCTTCAGCATCTGCTTCTCCTGCTTCCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01168.hp1 HG01168.hp1	a0025 a0025	a0025c0053 a0025c0053	a0025c0053t0001 a0025c0053t0001	a0025c0053t0001g0127 a0025c0053t0001g0127	1	422	0.0024	-285	c.102 others(9): Show c.1024_1308del	p.Arg others(13): Show p.Arg342_Met436del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1403/2367	1024/1869	342/622			chr15	TogoVar
GRIK3_chr1_36790527_37039515	36958133	GTGTGCCC others(278): Show GTGTGCCCCGTGACTCTGTGCCCTGAGTCTGTGTGCCCTGTGAGTCTGTG CCCCTGAGTCTGTGTGCCCTGTGAGTCTGTGCCCCGTGAGCCTGTGTGCC CCGTGAGCCTGTGTGTCCCATGACTCTGTGCCCCGTGAGTCTGTGTGCCC CATGACTCTGTGCCCCCTGAGTCTGTGTGCCCGGTGAGTCTGTGCCCCAT GAGCCTGTGTGCTCTTTGAATCTTTGCTCCATGAGCCTGTGTGCTCTTTG AATCTGCGCCCTGTGAGCCTGTGTGCCCCGTGAGTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00673.hp1 others(71): Show HG00099.hp2 HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02080.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0007 others(5): Show a0001c0002 a0001c0003 a0001c0007 a0002c0001 a0002c0004 a0002c0005 a0002c0008 a0002c0009	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(27): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0018 a0001c0002t0024 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0010 a0001c0007t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0017 a0002c0001t0029 a0002c0004t0001 a0002c0005t0001 a0002c0008t0001 a0002c0009t0001	a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0028 others(71): Show a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0065 a0001c0002t0001g0082 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0002g0023 a0001c0002t0002g0073 a0001c0002t0002g0103 a0001c0002t0003g0053 a0001c0002t0004g0044 a0001c0002t0004g0067 a0001c0002t0004g0089 a0001c0002t0005g0078 a0001c0002t0005g0079 a0001c0002t0005g0096 a0001c0002t0007g0003 a0001c0002t0008g0031 a0001c0002t0009g0111 a0001c0002t0011g0098 a0001c0002t0012g0040 a0001c0002t0013g0074 a0001c0002t0014g0061 a0001c0002t0015g0108 a0001c0002t0018g0055 a0001c0002t0024g0032 a0001c0003t0001g0022 a0001c0003t0001g0024 a0001c0003t0001g0056 a0001c0003t0001g0069 a0001c0003t0001g0076 a0001c0003t0001g0109 a0001c0003t0002g0019 a0001c0003t0003g0090 a0001c0003t0008g0068 a0001c0003t0010g0088 a0001c0007t0001g0077 a0002c0001t0001g0002 a0002c0001t0001g0008 a0002c0001t0001g0010 a0002c0001t0001g0013 a0002c0001t0001g0014 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0025 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0030 a0002c0001t0001g0041 a0002c0001t0001g0042 a0002c0001t0001g0047 a0002c0001t0001g0048 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0057 a0002c0001t0001g0064 a0002c0001t0001g0080 a0002c0001t0001g0086 a0002c0001t0001g0106 a0002c0001t0002g0095 a0002c0001t0003g0004 a0002c0001t0003g0091 a0002c0001t0017g0072 a0002c0001t0029g0114 a0002c0004t0001g0104 a0002c0005t0001g0102 a0002c0008t0001g0009 a0002c0009t0001g0093	74	114	0.6491	-285	c.116 others(19): Show c.116-67322_116-67038del		GRIK3	ENSG00000163873.10	transcript	ENST00000373091.8	protein_coding	1/15						chr1	TogoVar
HPSE_chr4_83287461_83339848	83300555	TAAGAATT others(278): Show TAAGAATTATTACACTTTGGGAGGACGAGGCGGGCAGATCACGAGGTCAG GAGATCGAGACCCATCCGGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(211): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0006 a0001c0007 others(5): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002 a0003c0004 a0004c0008 a0005c0009 a0006c0011	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(14): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0006t0001 a0001c0006t0008 a0001c0007t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0016 a0002c0002t0020 a0003c0004t0001 a0004c0008t0001 a0005c0009t0001 a0006c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(209): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0008g0073 a0001c0001t0008g0119 a0001c0001t0008g0121 a0001c0001t0008g0122 a0001c0001t0012g0136 a0001c0001t0012g0183 a0001c0001t0012g0198 a0001c0001t0014g0052 a0001c0001t0015g0264 a0001c0001t0017g0113 a0001c0006t0001g0105 a0001c0006t0001g0107 a0001c0006t0008g0094 a0001c0006t0008g0099 a0001c0007t0001g0125 a0001c0007t0001g0271 a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0074 a0002c0002t0001g0082 a0002c0002t0001g0090 a0002c0002t0001g0100 a0002c0002t0001g0117 a0002c0002t0001g0123 a0002c0002t0001g0132 a0002c0002t0001g0142 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0174 a0002c0002t0001g0181 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0236 a0002c0002t0001g0240 a0002c0002t0001g0253 a0002c0002t0001g0300 a0002c0002t0001g0303 a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0003g0299 a0002c0002t0016g0298 a0002c0002t0020g0239 a0003c0004t0001g0152 a0003c0004t0001g0153 a0003c0004t0001g0158 a0003c0004t0001g0159 a0004c0008t0001g0019 a0004c0008t0001g0020 a0005c0009t0001g0231 a0006c0011t0001g0317	214	320	0.6688	-285	c.147 others(17): Show c.1472+120_1472+404del		HPSE	ENSG00000173083.16	transcript	ENST00000311412.10	protein_coding	11/11						chr4	TogoVar
KANK1_chr9_499695_751103	707925	GTTTCAGA others(278): Show GTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGT TAATGGAGTTTCAGACATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCT CTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGC AGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGG CTGCTGCAGCTTCTCTCCTGTTAATGGAATTTCAGACAGTCCTGGAGACA GGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0106 a0004c0005t0001g0106	1	254	0.0039	-285	c.38- others(15): Show c.38-2822_38-2538del		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
LMF1_chr16_848634_975984	859104	GCAGTGAT others(278): Show GCAGTGATGTCTCGGGACGGGTGTGCACTGATGTCACGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0125 a0001c0018t0001g0125	1	294	0.0034	-285	c.153 others(19): Show c.1530-4683_1530-4399del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LYPD8_chr1_248734415_248760759	248746657	CCAGCACC others(278): Show CCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCA TCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAG CACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGC CCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCAC CCAGGGCATCACCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACG GCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	374	0.0027	-285	c.337 others(17): Show c.337+1347_338-1379del		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248746929	GCCCGCAC others(278): Show GCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCA GCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCC CCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCA CCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCAC GGCCAGCACCCACCCAGGGCATCGCCTGCACGGCCAGCACCCACCCAGGG CATCCCCCGCACGGCCAGCACCCACCCAGGGCATCC	G G	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	374	0.0027	-285	c.337 others(17): Show c.337+1075_337+1359del		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
MIGA2_chr9_129031626_129077082	129066412	CGCCTGTA others(278): Show CGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCGGGAGGATCACGAGGT CAGGAGATCAAGACCATCCTGGCTAGCACAGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCT TGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACCAAAAA AAAAAAAAAAAAGAAAGGCTGGGCGTAGTGGCTCAT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19078.hp1 NA18962.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0249 a0001c0001t0001g0168 a0001c0001t0001g0249	2	300	0.0067	-285	c.117 others(19): Show c.1171-1348_1171-1064del		MIGA2	ENSG00000148343.19	transcript	ENST00000684074.1	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr9	TogoVar
MUC20_chr3_195715978_195738551	195725379	CCCATCCA others(278): Show CCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGC CTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGA GCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCC TCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTC ACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03831.hp1 HG03831.hp1	a0043 a0043	a0043c0047 a0043c0047	a0043c0047t0002 a0043c0047t0002	a0043c0047t0002g0020 a0043c0047t0002g0020	1	185	0.0054	-285	c.909 others(8): Show c.909_1193del	p.Ser others(13): Show p.Ser304_Pro398del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	939/2493	909/2130	303/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC4_chr3_195741771_195816929	195783345	TACTGAGG others(278): Show TACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATG ATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCT GAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGA GGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGG AAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAA AGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03098.hp2 HG03098.hp2	a0069 a0069	a0069c0172 a0069c0172	a0069c0172t0005 a0069c0172t0005	a0069c0172t0005g0230 a0069c0172t0005g0230	1	249	0.0040	-285	c.795 others(9): Show c.7950_8234del	p.Thr others(15): Show p.Thr2651_Val2745del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8346/16756	7950/16239	2650/5412			chr3	TogoVar
NAA60_chr16_3438680_3491953	3469329	AGCACTGC others(278): Show AGCACTGCCCTGGTACCCGTCCTGTTTAGAGGGCTCAGAGCAGAGAGCAC CTGCCTGGCAGGGCCTGTCTCTGACTTTGCCTTGCTGCTCCCCCCAGCAC TGCCCTGGTACCCATCCTGTTTGGAGGGCTCAGAGCAGAGAGCACCTGCC TGGCGGGGCCTGTCTCTGACTTTGCCTTGCTGCTCCGCACAGCACTGCCC TGGTACCCATCCTGTTTGGAGGGCTCAGAGCAGAGAGCACCTGCCTGGTG GGGCCTGTCTCTGACTTTGCCTTGCTGCTCCGCACT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0269 a0001c0007t0008g0269	1	376	0.0027	-285	c.-6- others(15): Show c.-6-6866_-6-6582del		NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79505285	CGTGGGAG others(278): Show CGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAG ACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTTGGGTGATGGAAGAG GCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG AGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTT GGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGA GGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01952.hp2 HG02258.hp2 others(15): Show HG01891.hp2 HG01952.hp2 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02630.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG06807.hp1 NA18906.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0010 a0001c0013 others(3): Show a0001c0005 a0001c0010 a0001c0013 a0001c0028 a0001c0035 a0001c0048	a0001c0005t0004 a0001c0005t0005 a0001c0005t0011 others(10): Show a0001c0005t0004 a0001c0005t0005 a0001c0005t0011 a0001c0005t0016 a0001c0005t0035 a0001c0010t0005 a0001c0010t0029 a0001c0013t0005 a0001c0013t0007 a0001c0028t0007 a0001c0028t0018 a0001c0035t0054 a0001c0048t0005	a0001c0005t0004g0058 a0001c0005t0005g0056 a0001c0005t0005g0083 others(15): Show a0001c0005t0004g0058 a0001c0005t0005g0056 a0001c0005t0005g0083 a0001c0005t0005g0320 a0001c0005t0011g0131 a0001c0005t0016g0147 a0001c0005t0035g0276 a0001c0010t0005g0126 a0001c0010t0029g0081 a0001c0010t0029g0125 a0001c0013t0005g0114 a0001c0013t0005g0310 a0001c0013t0007g0112 a0001c0013t0007g0113 a0001c0028t0007g0127 a0001c0028t0018g0082 a0001c0035t0054g0312 a0001c0048t0005g0283	18	322	0.0559	-285	c.278 others(21): Show c.2782+18365_2782+18649del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NXN_chr17_794310_984776	941036	TGCAGCCA others(278): Show TGCAGCCATGAATTCACCAAACACCTCCCTGGATTTCCAGCGAACAAGAT TCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGA ACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTT ACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTTCC TGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAAC ACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00621.hp2 others(52): Show HG00099.hp1 HG00544.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01192.hp1 HG01496.hp2 HG01978.hp2 HG02015.hp1 HG02071.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18939.hp1 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18980.hp2 NA18983.hp2 NA18995.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19060.hp1 NA19060.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0008 a0001c0001 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0007t0001 a0004c0008t0002	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0046 others(52): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0071 a0001c0001t0001g0107 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0050 a0001c0001t0002g0067 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0002g0128 a0001c0001t0002g0149 a0001c0001t0002g0167 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0207 a0001c0001t0003g0058 a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0205 a0001c0001t0004g0129 a0001c0001t0004g0224 a0001c0001t0005g0054 a0001c0001t0005g0059 a0001c0001t0005g0132 a0001c0001t0005g0209 a0001c0001t0006g0144 a0001c0001t0006g0172 a0001c0001t0006g0184 a0001c0001t0008g0176 a0001c0001t0010g0003 a0001c0001t0014g0113 a0001c0001t0017g0002 a0001c0001t0020g0164 a0001c0001t0028g0091 a0001c0001t0030g0237 a0001c0001t0031g0238 a0001c0007t0001g0089 a0004c0008t0002g0150	55	242	0.2273	-285	c.360 others(19): Show c.360+37998_360+38282del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	942404	TGCAGCCA others(278): Show TGCAGCCATGAATTCACCACACACCTTCCTGGATTTACAGTGAACAAGAT TCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGCGA ACAAGATTCCAGGGCGCAGCCATGAACTCACATCACACCTTCCTGGATTT ACGGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTTCC TGGATTTCCAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATCAC ACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18943.hp1 NA18943.hp2 others(2): Show NA18612.hp2 NA18943.hp1 NA18943.hp2 NA19011.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0049 a0001c0001t0002g0102 a0001c0001t0002g0170 others(2): Show a0001c0001t0001g0049 a0001c0001t0002g0102 a0001c0001t0002g0170 a0001c0001t0002g0212 a0001c0001t0005g0048	5	242	0.0207	-285	c.360 others(19): Show c.360+36630_360+36914del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(278): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 NA19240.hp1 HG02572.hp1 HG02615.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0057 a0002c0002t0002 a0002c0002t0057	a0002c0002t0002g0321 a0002c0002t0002g0331 a0002c0002t0057g0330 a0002c0002t0002g0321 a0002c0002t0002g0331 a0002c0002t0057g0330	3	366	0.0082	-285	c.462 others(14): Show c.462+36_462+320del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745353	GCCGTGGA others(278): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA19004.hp2 HG04204.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0054 a0001c0001t0006 a0001c0003t0054	a0001c0001t0006g0086 a0001c0003t0054g0134 a0001c0001t0006g0086 a0001c0003t0054g0134	2	366	0.0055	-285	c.462 others(16): Show c.462+779_462+1063del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar

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Search Results (Total: 10000 hits)