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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Select column to sort.

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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
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(857): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATATCCATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATCCATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0226 a0002c0002t0002g0226	1	284	0.0035	864	c.126 others(881): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATGGATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATGGATATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATAT		LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31						chr5	TogoVar
LRCH3_chr3_197786254_197893436	197877547	C C	CTCACCGC others(857): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCT TTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACC GCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGT GATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCC AACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCC ATGGCAGTGATTCTCTTTACCCAACTCACTGCACCCATGACAGTGATTCT CTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCA CCGCACCCATGACAGTGATTCTCTTTACCCAATTCACCGCACCCATGACA GTGATTCTCTTTACCCAATTCACCGCACCCATGACAGTGATTCTCTTTAC CCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCGCAC CCATGACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATT CTCTTTACCCAACTCACTGCACCCATGGCAGTGATTCTCTTTACCCAACT CACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGA CAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTT ACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGC ACCCATGACAGTGATTCTCTTTACCCAGTTCACCGCACCCATGACAGTGA TTCTCTTTACCCAGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0118 a0001c0001t0027g0118	1	292	0.0034	864	c.220 others(883): Show c.2208+1786_2208+1787insGCAGTGATTCTCTTTACCCAACTCAC CGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAG TGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACC CAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACC CATGACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACTGCACCCATGAC AGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTA CCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAATTCACCGCA CCCATGACAGTGATTCTCTTTACCCAATTCACCGCACCCATGACAGTGAT TCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAAC TCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCGCACCCATG GCAGTGATTCTCTTTACCCAACTCACTGCACCCATGGCAGTGATTCTCTT TACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCG CACCCATGACAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTG ATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCA ACTCACCGCACCCATGACAGTGATTCTCTTTACCCAGTTCACCGCACCCA TGACAGTGATTCTCTTTACCCAGTTCACCGCACCCATG		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877547	C C	CTCACCGC others(857): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCT TTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACC GCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGT GATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCC AACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCC ATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCT CTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCA CCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCA GTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTAC CCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCAC CCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATT CTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACT CACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGG CAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTT ACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGC ACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGA TTCTCTTTACCCAGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp1 HG02559.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0054 a0001c0001t0014 a0001c0001t0054	a0001c0001t0014g0166 a0001c0001t0054g0158 a0001c0001t0014g0166 a0001c0001t0054g0158	2	292	0.0069	864	c.220 others(883): Show c.2208+1786_2208+1787insGCAGTGATTCTCTTTACCCAACTCAC CGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAG TGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACC CAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACC CATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGC AGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTA CCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCA CCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGAT TCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAAC TCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATG ACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTT TACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCG CACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTG ATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCA ACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCA TGACAGTGATTCTCTTTACCCAGTTCACCGCACCCATG		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(857): Show TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	296	0.0034	864	c.368 others(881): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCC CGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAA GCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGT AAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTA GTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGG TATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGG CCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGT AAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAG GTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATG TAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCG GGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGT		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
MICAL3_chr22_17782649_18029561	17877184	A A	AGTTATGG others(857): Show AGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAG GGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATG GAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGG AAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGA GGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGG AGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	274	0.0037	864	c.224 others(883): Show c.2242-5162_2242-5161insCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCT AACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTC CCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCC TCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCAT AACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCCTAACCT CCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAAC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877441	G G	GGGAAGTT others(857): Show GGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGG GAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGGG AGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTAAGGAGGTT AGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGC AGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAG GTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTAT GGAGGTTAGGGAGATTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTGAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	274	0.0037	864	c.224 others(883): Show c.2242-5419_2242-5418insATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCATAACCTCCCTAACTTCCCTAACCTCCATAACCTCCCTAACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCATAACTTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCAT AACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTT CCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTC CATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAA CCTCCCTAACCTCCATAATCTCCCTAACCTCCCTAACCTCCCTCACCTCC ATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACC TCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCT CCATAACCTCCCTCACCTCCATAACCTCCATAACTTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(857): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCCTCTTCCCTCCCCTCCTCTC TTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCC TCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCTCTCC TCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCC CTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	140	0.0071	864	c.114 others(883): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTC TCCCCTCCCGTCTCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCT CCTCCCCTCCCCTCTCTCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCT CCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(857): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATAAAATCTTATATTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAT AAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATA TATATTTTATATATATATAAAATAAGATTTTATATATATATAAAATCTTA TTTTATATATATATAAAATAAGATTTTATATATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTAT ATATATAAAATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATTTTAT ATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0161 a0001c0001t0006g0161	1	330	0.0030	864	c.-5+ others(879): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATAT ATATATATAAAATCTTATTTTATATATATATAAAATAAGATTTTATATAT ATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATATAAAATATATATAATATA AGATTTTATATATATAAAATAAGATTTTATATATATAAAATATATATAAA GTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATAT ATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATAAAAAATATATATCAAATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(857): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAT AAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATA TATATATAAAATCTTATTTTATATATATATAAAATAAGATTTTATATATA TATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATAAAATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTAT ATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0295 a0001c0001t0030g0295	1	330	0.0030	864	c.-5+ others(879): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATT TTATATATATTTTATATATATAAAATCTTATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATATAAAATCTT ATTTTATATATATATAAAATAAGATTTTATATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATAAGATTTTATATATATAAAATATATATAAA GTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATAT ATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATAAAAAATATATATCAAATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(857): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAT AAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTA TTTTATATATATATAAAATAAGATTTTATATATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTAT ATATATAAAATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATTTTAT ATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	330	0.0030	864	c.-5+ others(879): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATAT ATATATATAAAATCTTATTTTATATATATATAAAATAAGATTTTATATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATAAGATTTTATATATATAAAATATATATAAA GTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATAT ATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATAAAAAATATATATCAAATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(857): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAT AAAATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATA TATATATAAAATCTTATTTTATATATATATAAAATAAGATTTTATATATA TATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATAAAATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTAT ATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0294 a0001c0001t0004g0294	1	330	0.0030	864	c.-5+ others(879): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATT TTATATATATTTTATATATATAAAATCTTATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATATAAAATCTT ATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATAAGATTTTATATATATAAAATATATATAAA GTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATAT ATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATAAAAAATATATATCAAATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MUC4_chr3_195741771_195816929	195783599	T T	TGGTGACA others(857): Show TGGTGACAGGAAGAGGGGTGTCCTGACCTGTGGATGCTGAGGAAGTATCG GTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCTGGT GACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGGTGA CCGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTGACA GGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGG AAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAA GAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTAGTGACAGGAAGA GGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGA GGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGAGGGG TGGTGTCACCTGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGGGGTG GTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGTGGC GTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGTGT GACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGTGTCA CCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGACCTG TGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATCTGTG GAAGCTGAAGAAAGGCCGGTGACAGGAAGTGGAGTGGCGTGAGCTGTGGA TACTGAGGAAGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01433.hp2 HG01433.hp2	a0087 a0087	a0087c0184 a0087c0184	a0087c0184t0003 a0087c0184t0003	a0087c0184t0003g0215 a0087c0184t0003g0215	1	249	0.0040	864	c.798 others(873): Show c.7980_7981insGACACTTCCTCAGTATCCACAGCTCACGCCACTCCA CTTCCTGTCACCGGCCTTTCTTCAGCTTCCACAGATGACACCACCCGTCT TCCTGTCACCGACGTTTCCTCGGCATCCACAGGTCAGGCCATCCCTCTTC CTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCT GTCACCGACGCTTCCTCAGCATCCACAGGTGACACCACCTCTCTTCCTGT CACCATCCCTTCCTCAGCATCTTCAGGTCACACCACCTCTCTTCCTGTCA CCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCTTGTCACC GACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGA CACTAACTCAGCATCCACAGGTGACACCACCCCTCTTCATGTCACCGACG CTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGCCTT TCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTC CTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCCT CAGTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCTCA GTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAGT GTCCACAGGTCATGCCACCCCTCTTCCGGTCACCGACACTTCCTCAGTAT CTACAGGACAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGCATCC ACTGGTGACACCACGCCGCTTCCTGTCACCGATACTTCCTCAGCATCCAC AGGTCAGGACACCCCTCTTCCTGTCACC	p.Thr others(879): Show p.Thr2660_Ser2661insAspThrSerSerValSerThrAlaHisAla ThrProLeuProValThrGlyLeuSerSerAlaSerThrAspAspThrTh rArgLeuProValThrAspValSerSerAlaSerThrGlyGlnAlaIleP roLeuProValThrSerProSerSerAlaSerThrGlyAspThrThrPro LeuProValThrAspAlaSerSerAlaSerThrGlyAspThrThrSerLe uProValThrIleProSerSerAlaSerSerGlyHisThrThrSerLeuP roValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuLeu ValThrAspAlaSerSerValSerThrGlyAspThrThrProLeuProVa lThrAspThrAsnSerAlaSerThrGlyAspThrThrProLeuHisValT hrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProValThr SerLeuSerSerAlaSerThrGlyAspThrThrProLeuProValThrSe rProSerSerAlaSerSerGlyHisThrThrProLeuProValThrAspA laSerSerValProThrGlyHisAlaThrSerLeuProValThrAspAla SerSerValSerThrGlyHisAlaThrProLeuProValThrAspAlaSe rSerValSerThrGlyHisAlaThrProLeuProValThrAspThrSerS erValSerThrGlyGlnAlaThrProLeuProValThrSerLeuSerSer AlaSerThrGlyAspThrThrProLeuProValThrAspThrSerSerAl aSerThrGlyGlnAspThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8092/16756	7980/16239	2660/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783599	T T	TGGTGACA others(857): Show TGGTGACAGGAAGAGGGGTGTCCTGACCTGTGGATGCTGAGGAAGTATCG GTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCTGGT GACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGGTGA CCGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTGACA GGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGG AAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAA GAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTAGTGACAGGAAGA GGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGA GGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGAGGGG TGGTGTCACCTGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGGGGTG GTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGTGGC GTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGTGT GACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGTGTCA CCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGACCTG TGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATCTGTG GAAGCTGAAGAAAGGCCGGTGACAGGAAGTGGGGTGGCGTGAGCTGTGGA TACTGAGGAAGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG02615.hp2 HG00099.hp1 HG02615.hp2	a0048 a0156 a0048 a0156	a0048c0146 a0156c0106 a0048c0146 a0156c0106	a0048c0146t0004 a0156c0106t0001 a0048c0146t0004 a0156c0106t0001	a0048c0146t0004g0233 a0156c0106t0001g0144 a0048c0146t0004g0233 a0156c0106t0001g0144	2	249	0.0080	864	c.798 others(873): Show c.7980_7981insGACACTTCCTCAGTATCCACAGCTCACGCCACCCCA CTTCCTGTCACCGGCCTTTCTTCAGCTTCCACAGATGACACCACCCGTCT TCCTGTCACCGACGTTTCCTCGGCATCCACAGGTCAGGCCATCCCTCTTC CTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCT GTCACCGACGCTTCCTCAGCATCCACAGGTGACACCACCTCTCTTCCTGT CACCATCCCTTCCTCAGCATCTTCAGGTCACACCACCTCTCTTCCTGTCA CCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCTTGTCACC GACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGA CACTAACTCAGCATCCACAGGTGACACCACCCCTCTTCATGTCACCGACG CTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGCCTT TCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTC CTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCCT CAGTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCTCA GTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAGT GTCCACAGGTCATGCCACCCCTCTTCCGGTCACCGACACTTCCTCAGTAT CTACAGGACAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGCATCC ACTGGTGACACCACGCCGCTTCCTGTCACCGATACTTCCTCAGCATCCAC AGGTCAGGACACCCCTCTTCCTGTCACC	p.Thr others(879): Show p.Thr2660_Ser2661insAspThrSerSerValSerThrAlaHisAla ThrProLeuProValThrGlyLeuSerSerAlaSerThrAspAspThrTh rArgLeuProValThrAspValSerSerAlaSerThrGlyGlnAlaIleP roLeuProValThrSerProSerSerAlaSerThrGlyAspThrThrPro LeuProValThrAspAlaSerSerAlaSerThrGlyAspThrThrSerLe uProValThrIleProSerSerAlaSerSerGlyHisThrThrSerLeuP roValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuLeu ValThrAspAlaSerSerValSerThrGlyAspThrThrProLeuProVa lThrAspThrAsnSerAlaSerThrGlyAspThrThrProLeuHisValT hrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProValThr SerLeuSerSerAlaSerThrGlyAspThrThrProLeuProValThrSe rProSerSerAlaSerSerGlyHisThrThrProLeuProValThrAspA laSerSerValProThrGlyHisAlaThrSerLeuProValThrAspAla SerSerValSerThrGlyHisAlaThrProLeuProValThrAspAlaSe rSerValSerThrGlyHisAlaThrProLeuProValThrAspThrSerS erValSerThrGlyGlnAlaThrProLeuProValThrSerLeuSerSer AlaSerThrGlyAspThrThrProLeuProValThrAspThrSerSerAl aSerThrGlyGlnAspThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8092/16756	7980/16239	2660/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784498	A A	ACTGAGGA others(857): Show ACTGAGGAATTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGC TGAGGAAGTGCTGGTGACAGGAAGAGAGGTGGCGTGACCGGTGGATGCTG AGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAG GAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATAATGAGGA AGCATTGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAG TGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGG CTGGTGACAGGAAGAGGGGTGGTGTCACCTTTGGATGCTGAGGTAGTGTC GGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGG TGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGCGTCGGTG ACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGAC AGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAG GAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGA AGAGGAGTGACGTGACCTGTGGATGCTGAGGAAGTGCTAGTGACAGGAAG AGGCGTGGTGTCACCTGTGGATACTGAGGAAGTGTCGGTGACAAGAAGAG AGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGG GTGGTGTGACCTGTGGAAGCTGAGGAAGGGATGGTTACAGGAAGAGAGGT GGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGG CGTGTCCTGTGGATG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02895.hp2 HG03688.hp2 HG03942.hp2 HG02895.hp2 HG03688.hp2 HG03942.hp2	a0025 a0074 a0025 a0074	a0025c0010 a0074c0167 a0025c0010 a0074c0167	a0025c0010t0001 a0074c0167t0001 a0025c0010t0001 a0074c0167t0001	a0025c0010t0001g0078 a0025c0010t0001g0141 a0074c0167t0001g0067 a0025c0010t0001g0078 a0025c0010t0001g0141 a0074c0167t0001g0067	3	249	0.0121	864	c.708 others(873): Show c.7081_7082insCATCCACAGGACACGCCACCCCTCTTCCTGTCACCG ACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTAACCATC CCTTCCTCAGCTTCCACAGGTCACACCACCCCTCTTCCTGTCACCGACAC TTCCTCAGCATCCACAGGTCAGGCCACCTCTCTTCTTGTCACCGACACTT CCTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCACTTCC TCAGCATCCACAGGTCACGTCACTCCTCTTCATGTCACCAGCCCTTCCTC AGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAG CATCCACAGGTGACACCATGCCTCTTCCTGTCACTAGCCCTTCCTCAGCA TCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGTATC CACAGGTCACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCTA CAGGTCACACCACCCCTCTTCCTGTCACCGACACTACCTCAGCATCCAAA GGTGACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCTACAGG TCACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTG ACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATTATCCACAGGTCAC GCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGC CACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACCGGTCACGCCA CCTCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACCGGTCACGCCACC CCTCTTCCTGTCACCGACAATTCCTCAG	p.Ser others(879): Show p.Ser2360_Val2361insAlaSerThrGlyHisAlaThrProLeuPro ValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProVa lThrIleProSerSerAlaSerThrGlyHisThrThrProLeuProValT hrAspThrSerSerAlaSerThrGlyGlnAlaThrSerLeuLeuValThr AspThrSerSerValSerThrGlyAspThrThrProLeuProValThrSe rThrSerSerAlaSerThrGlyHisValThrProLeuHisValThrSerP roSerSerAlaSerThrGlyHisAlaThrProLeuProValThrSerLeu SerSerAlaSerThrGlyAspThrMetProLeuProValThrSerProSe rSerAlaSerThrGlyAspThrThrProLeuProValThrAspAlaSerS erValSerThrGlyHisThrThrProLeuProValThrSerProSerSer AlaSerThrGlyHisThrThrProLeuProValThrAspThrThrSerAl aSerLysGlyAspThrThrProLeuProValThrSerProSerSerAlaS erThrGlyHisThrThrProLeuProValThrAspThrSerSerAlaSer ThrGlyAspThrThrProLeuProValThrAsnAlaSerSerLeuSerTh rGlyHisAlaThrProLeuHisValThrSerProSerSerAlaSerThrG lyHisAlaThrProLeuProValThrSerThrSerSerAlaSerThrGly HisAlaThrSerLeuProValThrSerThrSerSerAlaSerThrGlyHi sAlaThrProLeuProValThrAspAsnSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7193/16756	7081/16239	2361/5412			chr3	TogoVar
MYT1L_chr2_1784113_2336275	1861913	T T	TGGATCTG others(857): Show TGGATCTGCCTGCAGCCTATGTAATCCTGGATCTGTGTGCAGCCTGTGTA ATCCTGGATACTCCTCCAGCCTGTGTAATCCTGGATCTGCCTGCAGCCTG AGTAATCCTAGATCTGCCTGCAGCCTGTGTAATCCTGGATCCTCCTGCAG CCTCTGTAATCCTGGATCTGCCTGCAGCCTGTGTAATCCTAGATCCGCCT GCAGCCTGTGTAATCCTGGATCCTCCTGCAGCCTGTGTAATCCTGGATCT GCCTGCAGCCTGTGTAATCCTAGATCCGCCTGCAGCCTGTGTAATCCTGG ATCTGCCTGCAGCCTGTGTAATCCTGGATCCTCCTACAGCCTGTGTAATC CTAGATCTGCCTGCAGCCTGTGTAATCCTGGATCTGCCTGCAGCCTGTGT AATCCTAGATCCGCCTGCAGCCTGTGTAACCCTAGATCCACCTGCAGCCT GTGTAATCCTAGATCTGCCTGCAGCCTGTGGAATCCTGGATCTGCCTGCA GCCTGTGTAATCCTAGATCTGCCTGCAGCCTGTGTAATCCTGGATCCTCC TGCAGCCTGTGTAATCCTAGATCTGCCGGCAGCCTGTGTAATCCTGGATC CTTCTGCAGCCTGTGTAATCCTGGATCCACCTGCAGCCTGTGTAATCCTA GATCTGCCTGCAGCCTGTGTAATCCTGGATCCTCCTGCAGCCTGTGTAAT CGTAGATCTGCCTGCAGCCTGTGTAATCCTGGATCCTCCTGCAGCCTGTG AAATCCTGGATCCTCCTGCAGCCTGTGTAATCCTGGATCTGCCTGCAGCC TGTGTAATCCTGGATCCTCCTGCAGCCTGTGTAATCCTGGATCTGCCTGC AGCCTGTGTAATCCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0017 a0001c0003t0002g0017	1	104	0.0096	864	c.271 others(885): Show c.2712-10211_2712-10210insGGGATTACACAGGCTGCAGGCAGA TCCAGGATTACACAGGCTGCAGGAGGATCCAGGATTACACAGGCTGCAGG CAGATCCAGGATTACACAGGCTGCAGGAGGATCCAGGATTTCACAGGCTG CAGGAGGATCCAGGATTACACAGGCTGCAGGCAGATCTACGATTACACAG GCTGCAGGAGGATCCAGGATTACACAGGCTGCAGGCAGATCTAGGATTAC ACAGGCTGCAGGTGGATCCAGGATTACACAGGCTGCAGAAGGATCCAGGA TTACACAGGCTGCCGGCAGATCTAGGATTACACAGGCTGCAGGAGGATCC AGGATTACACAGGCTGCAGGCAGATCTAGGATTACACAGGCTGCAGGCAG ATCCAGGATTCCACAGGCTGCAGGCAGATCTAGGATTACACAGGCTGCAG GTGGATCTAGGGTTACACAGGCTGCAGGCGGATCTAGGATTACACAGGCT GCAGGCAGATCCAGGATTACACAGGCTGCAGGCAGATCTAGGATTACACA GGCTGTAGGAGGATCCAGGATTACACAGGCTGCAGGCAGATCCAGGATTA CACAGGCTGCAGGCGGATCTAGGATTACACAGGCTGCAGGCAGATCCAGG ATTACACAGGCTGCAGGAGGATCCAGGATTACACAGGCTGCAGGCGGATC TAGGATTACACAGGCTGCAGGCAGATCCAGGATTACAGAGGCTGCAGGAG GATCCAGGATTACACAGGCTGCAGGCAGATCTAGGATTACTCAGGCTGCA GGCAGATCCAGGATTACACAGGCTGGAGGAGTATCCAGGATTACACAGGC TGCACACAGATCCAGGATTACATAGGCTGCAGGCAGATCC		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	18/24						chr2	TogoVar
NCAN_chr19_19206958_19257233	19211002	C C	CGGTGGCT others(857): Show CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACCA ATCGTTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACT CCATCTCCACTAAAAATACAAAAATTAGTCAGGCATGGTGGTGGGCACCT GTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCATG GGGGCAGAGGTTTCAGTGAGCCTAGATTGCACCACTGCACTCCAGCCTGG GCAACAGAGTGAGACTCTGTCTCAAAAGAATAAATAAATAAGTAAAATAA AGTGTACAATTCAATGGCGTTAAGTACATTCACGTTATTGTGCAACCGTC ACCTCTGTCTAGGTCCAGAATATTTTCGTCACCCTAAAAGAAGACCTGGT CCTCATCAGCAGTCACTCCCCATTTCCCCTCCCCCAGCCCCAACATCCAC TAATCTGCCTCCTGTCTCTGTGGATTTGCCTGATCTGAGAATTTCTTTTC TTTTCTTTCCTTTTTTTTTTTCTTTTTTGAGACAGAGTCTTGTCACTCAG CCTGGAGTGCAGTAGTGCAAATATGCCTCACTGCAGCTTCGACCTCCTAG GCTCAAGAGATCTTCCTGCCTCAGCCTCCTGTGTAGCTGGGACTACAGGC ACACACCACCATGCCCGGATATATATATATATATTTTTTGTGTGTGTGTA TGTGGAGACAAAGGGGTCTTACTTTGTTGCCCAGGCTAGTCTCGAACTCC TGGCCTCAAGGGAGCCTCCCACCATAGCCTCCCAAAGTGCTGGGATCACA GGCGTGAGCCACCGCGCCCAGCCTTGGATCTAGGCTTTAAAGATTGGGGT CTCCAGGCTGGGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02486.hp2 others(11): Show HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG02896.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0002 a0001c0002t0002 a0001c0005t0002	a0001c0002t0002g0004 a0001c0002t0002g0039 a0001c0002t0002g0055 others(10): Show a0001c0002t0002g0004 a0001c0002t0002g0039 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0141 a0001c0002t0002g0147 a0001c0005t0002g0050 a0001c0005t0002g0051 a0001c0005t0002g0052	14	318	0.0440	864	c.-10 others(875): Show c.-1070_-1069insGGTGGCTCACACCTGTAATCCCAGCACTTTGGGA GGCCAAGGCGGACCAATCGTTTGAGGTCAGGAGTTCGAGACCAGCCTGGC CAACATGGTGAAACTCCATCTCCACTAAAAATACAAAAATTAGTCAGGCA TGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGA ATCGCTTGAACCATGGGGGCAGAGGTTTCAGTGAGCCTAGATTGCACCAC TGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAGAATAAAT AAATAAGTAAAATAAAGTGTACAATTCAATGGCGTTAAGTACATTCACGT TATTGTGCAACCGTCACCTCTGTCTAGGTCCAGAATATTTTCGTCACCCT AAAAGAAGACCTGGTCCTCATCAGCAGTCACTCCCCATTTCCCCTCCCCC AGCCCCAACATCCACTAATCTGCCTCCTGTCTCTGTGGATTTGCCTGATC TGAGAATTTCTTTTCTTTTCTTTCCTTTTTTTTTTTCTTTTTTGAGACAG AGTCTTGTCACTCAGCCTGGAGTGCAGTAGTGCAAATATGCCTCACTGCA GCTTCGACCTCCTAGGCTCAAGAGATCTTCCTGCCTCAGCCTCCTGTGTA GCTGGGACTACAGGCACACACCACCATGCCCGGATATATATATATATATT TTTTGTGTGTGTGTATGTGGAGACAAAGGGGTCTTACTTTGTTGCCCAGG CTAGTCTCGAACTCCTGGCCTCAAGGGAGCCTCCCACCATAGCCTCCCAA AGTGCTGGGATCACAGGCGTGAGCCACCGCGCCCAGCCTTGGATCTAGGC TTTAAAGATTGGGGTCTCCAGGCTGGGTGT		NCAN	ENSG00000130287.14	transcript	ENST00000252575.11	protein_coding					955		chr19	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(857): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATA TAGTTTATAGTTTTAAACTATATAGTTTTAAACTATATAGTTTATAGTTT TAAACTATATAGTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATATA GTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGT TTATATATAGTTTTAAACTATATAGTTTATATAGTTTAAAACTATATAGT TTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTT ATATAGTTTAAAACTATATAGTTTATATAGTTTAAACTATATAGTTTATA TAGTTTTAAACTATATAGTTTATATAGTTTAAACTATATAGTTTATATAG TTTTAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATA TAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGT TTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTT TATGTAGTTTTAAACTATATAGTTTTAAACTACGTAGTTTAAAACTATAT AGTTTTAAACTACGTAGTTTAAAACTATATAGTTTTAAACTACGTAGTTT TAAACTATATAGTTTTAAACTACGTAGTTTTAAACTATATAGTTTTAAAC TATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTA AAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAG TTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	244	0.0041	864	c.342 others(883): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACGTAGTTTAAAACTATATAGTTTAAAACTACGTAG TTTAAAACTATATAGTTTTAAACTACGTAGTTTAAAACTATATAGTTTTA AACTACGTAGTTTAAAACTATATAGTTTAAAACTACATAAACTATATAGT TTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAA ACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAA CTATATAGTTTAAAACTATATAAACTATATAGTTTAAAACTATATAAACT ATATAGTTTAAACTATATAAACTATATAGTTTAAAACTATATAAACTATA TAGTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAG TTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTT TTAAACTATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTT TAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTA AAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAACTATATAGTT TAAAACTATAAACTATATAGTTTAAAACTATATAGTTTAAAACTATAAAC TATATAGTTTAAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAA ACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA		NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30						chr1	TogoVar
NRXN3_chr14_78165373_79873291	79257520	G G	GTGGTGGT others(857): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTAATGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTAATGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTAATGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAA TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGGT GGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TAATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0020 a0001c0007t0002g0020	1	24	0.0417	864	c.326 others(887): Show c.3263-209669_3263-209668insATGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTAATGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTAATGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTAATGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGG TGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATG GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79257563	T T	TGGTGGTG others(857): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAATGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGCGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGCGGTGGTGGTGGTGGTGATGGTGGCGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGATAGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGG TGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGATGGTGGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0003 a0001c0004t0005g0003	1	24	0.0417	864	c.326 others(887): Show c.3263-209642_3263-209641insGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAATGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTGGCGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGCGGTGGTGGTGGTGGTGATGGTGGCGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGATAGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGATGGT GGTGATGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGATGGTGGCGGTGGTGGTGGTGGTG		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NUP93_chr16_56725129_56855286	56739527	A A	ACTCCCCC others(857): Show ACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCT GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGG GGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGTAGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0293 a0001c0003t0002g0293	1	378	0.0027	864	c.-14 others(881): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGTGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGTAGGGGGGCTGACC		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
PKP3_chr11_389209_409908	398212	C C	CCCCGCAC others(857): Show CCCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACC TCCGTACACCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCT GCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCAT ACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTC ACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACATATA CCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACCCCC GCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCC GTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCA TCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCACA CACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACC CCCGCACACACCTGTGTCACCTCCCTACCCCCACATATACCTCATCACCT CCGTACACCCGCACATACCTGCGTCACCTCCCTACCCCCACATATACCTC ATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACAT ATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACC CCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACC TCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCT CATCACCTCCGTACA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0095 a0001c0003t0001g0095	1	216	0.0046	864	c.106 others(881): Show c.1069-663_1069-662insCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACA TATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCATCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCG TACCCCCGCACACACCTGTGTCACCTCCCTACCCCCACATATACCTCATC ACCTCCGTACACCCGCACATACCTGCGTCACCTCCCTACCCCCACATATA CCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCC ACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACATAT ACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACCCC CACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACACCTGCGTCACCTCCGTACCCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398269	A A	ACCCGCAC others(857): Show ACCCGCACACACCTGTGTCACCTCCCTACCCCCACATATACCTCATCACC TCCGTACACCCGCACACACCTGTGTCACCTCCCTACCCCCACATATACCT CATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACCCCCACA TATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTAC CCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACC TCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTG CGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTAC CCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCC TACCCCCGCACACACCTGCATCACCTCCGTACCCCCGCACACACCTGTGT CACCTCCATACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0002 a0008c0024t0002	a0008c0024t0002g0022 a0008c0024t0002g0022	1	216	0.0046	864	c.106 others(881): Show c.1068+621_1068+622insTGTCACCTCCCTACCCCCACATATACCT CATCACCTCCGTACACCCGCACACACCTGTGTCACCTCCCTACCCCCACA TATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTAC CCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACC TCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTG CGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCAC ACACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACA CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACC TCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCT GCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGT ACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCTGTC ACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCGCACACA CCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCCTACCCC CGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTG		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP1R14C_chr6_150138044_150255392	150167965	T T	TCTTTCTC others(857): Show TCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCTCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCTCCTTCTTCTTC CCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	312	0.0032	864	c.306 others(883): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCC CTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCTCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCT CCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTC TCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCT CCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(857): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTC TCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTC CTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0274 a0002c0002t0004g0274	1	312	0.0032	864	c.306 others(883): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTC TTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTCCTCCCCTTCTCTCCTCCCC		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150197676	C C	CCACGGTG others(857): Show CCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCC ACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCAC GGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGG TGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTG GAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGA GGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGG AGGGCCTGGATGCCCGGCTTTGTGTGCGCCTGGCCGCCACGGTGGAGGAG GGCCTGGATGCCCGGCTTTGTGTGCCCCTGGGCGCCACGGTGGAGGAGGG CCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCC TGGATGCCCGGCTTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTG GATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGA TGCCCGGCTTTGTGTGCCCCTGGGCGCCACGGTGGAGGAGGGCCTGGATG CCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCC CGGCTTTGTGTGCGCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCTG GCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGC TTTGTGTGCGCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCAGCTT TGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTG TGTGCCCCTGCCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02074.hp2 HG02738.hp1 others(3): Show HG00423.hp2 HG02074.hp2 HG02738.hp1 NA18612.hp2 NA18952.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0002c0002t0001	a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0003g0032 others(3): Show a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0003g0032 a0001c0001t0003g0156 a0001c0001t0015g0064 a0002c0002t0001g0185	6	312	0.0192	864	c.307 others(883): Show c.307-16929_307-16928insGCCGCCACGGTGGAGGAGGGCCTGGA TGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATG CCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCC CGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCG GCTTTGTGTGCGCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGC TTTGTGTGCCCCTGGGCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTT TGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTG TGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTG TGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTG CCCCTGGGCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCC CCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCGCC TGGCCGCCACGGTGGAGGAGGGCCTGGATGCCTGGCTTTGTGTGCCCCTG GCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCGCCTGGC CGCCACGGTGGAGGAGGGCCTGGATGCCCAGCTTTGTGTGCCCCTGCCCG TCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGCCCTTC ACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCAC GGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGG TGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTG		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PRB2_chr12_11386540_11400567	11393452	C C	CCTCCTTG others(857): Show CCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACC TTGGGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAG GAGATCGAGAACTTCGGGACTTGTTGTCTCCTTGTGGGGGTGGTCCTTGT GGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGG TGGTCCTTGTGGCTTTCCTGGAGGAGGTGGAGGACCTTGAGGCTGGTTGC CTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTT CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGG GGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTC CTGGAGGAGGTGGGGGACCTTGGGGCTGGTTGCCTCCTTGTGGGGGTGGT CCTTGTGGCTTTCCTGGAGGAGATCGAGAACTTCGGGACTTGTTGTCTCC TTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTT TGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGA GGACCTTGAGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCC TGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTGGGGGTGGTCCTT GTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGG GGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGAGGCTGGTT GCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGCAC TTCGGGACTTGTTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02273.hp1 HG02273.hp1	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0001 a0017c0016t0001	a0017c0016t0001g0042 a0017c0016t0001g0042	1	410	0.0024	864	c.625 others(871): Show c.625_626insACAACAAGTCCCGAAGTGCCCGATCTCCTCCAGGAAAG CCACAAGGACCACCCCCACAAGGAGGCAACCAGCCTCAAGGTCCCCCACC TCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACAAACCTC AAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGAC AAGTCCCGAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCC ACAAGGAGGCAACCAGCCTCAAGGTCCTCCACCTCCTCCAGGAAAGCCAC AAGGACCACCCCCACAAGGAGGCAACAAACCTCAAGGTCCCCCACCTCCA GGAAAGCCACAAGGACCACCCCCACAAGGAGACAACAAGTCCCGAAGTTC TCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACC AGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCCA CAAGGAGGCAACAAACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGG ACCACCCCCACAAGGAGACAAGTCCCGAAGTCCCCGATCTCCTCCAGGAA AGCCACAAGGACCACCCCCACAAGGAGGCAACCAGCCTCAAGGTCCTCCA CCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACAAACC TCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAG ACAACAAGTCCCGAAGTTCTCGATCTCCTCCAGGAAAGCCACAAGGACCA CCCCCACAAGGAGGCAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAA GCCACAAGGACCACCCCCACAAGGAG	p.Gly others(877): Show p.Gly208_Gly209insAspAsnLysSerArgSerAlaArgSerProPr oGlyLysProGlnGlyProProProGlnGlyGlyAsnGlnProGlnGlyP roProProProProGlyLysProGlnGlyProProProGlnGlyGlyAsn LysProGlnGlyProProProProGlyLysProGlnGlyProProProGl nGlyAspLysSerArgSerProArgSerProProGlyLysProGlnGlyP roProProGlnGlyGlyAsnGlnProGlnGlyProProProProProGly LysProGlnGlyProProProGlnGlyGlyAsnLysProGlnGlyProPr oProProGlyLysProGlnGlyProProProGlnGlyAspAsnLysSerA rgSerSerArgSerProProGlyLysProGlnGlyProProProGlnGly GlyAsnGlnProGlnGlyProProProProProGlyLysProGlnGlyPr oProProGlnGlyGlyAsnLysProGlnGlyProProProProGlyLysP roGlnGlyProProProGlnGlyAspLysSerArgSerProArgSerPro ProGlyLysProGlnGlyProProProGlnGlyGlyAsnGlnProGlnGl yProProProProProGlyLysProGlnGlyProProProGlnGlyGlyA snLysProGlnGlyProProProProGlyLysProGlnGlyProProPro GlnGlyAspAsnLysSerArgSerSerArgSerProProGlyLysProGl nGlyProProProGlnGlyGlyAsnGlnProGlnGlyProProProProP roGlyLysProGlnGlyProProProGlnGly	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	663/1431	625/1251	209/416			chr12	TogoVar
PRPF31_chr19_54110754_54136713	54133834	T T	TCCCTCTC others(857): Show TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCC TGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTTCCCTGTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCT CTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	227	0.0044	864	c.24 others(875): Show c.2402_*2403insCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCCACCTC		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2122		chr19	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(857): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATAATATGTAATACACAATATATATTA TATAATAATATGTAATACACAATATATTATATAATAATGTAATACACAAT ATATTATATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACATTATACATTATTATATAAGTAT ATGTAATACATTATACATTATTATATAAGTATATGTAATATATATTATAC ATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGCAT ATATAATACATAATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0070 a0001c0001t0015g0070	1	220	0.0046	864	c.24+ others(881): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATAATA TGTAATACACAATATATATTATATAATAATATGTAATACACAATATATTA TATAATAATGTAATACACAATATATTATATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAT TATACATTATTATATAAGTATATGTAATACATTATACATTATTATATAAG TATATGTAATATATATTATACATTATTATATAAGTATATGTAATATATAT TATACATTATTATATAAGCATATATAATACATAATA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4						chr5	TogoVar
RGS17_chr6_152999459_153136282	153108701	T T	TAGAAAAT others(857): Show TAGAAAATTCCCCTACATTCCGAAAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAG TAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGA AAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTA TTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATT ATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAGAATG GACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGT GGCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCC TGACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCT GGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGC ACCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAA AAAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCA ATAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19000.hp1 NA18995.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0102 a0001c0001t0002g0072 a0001c0001t0002g0102	2	338	0.0059	864	c.-26 others(883): Show c.-26+22422_-26+22423insTTTTTTTTTTTTTTTTTTTTTTGTAA AGGACATATCATATTTATTCATACACATGCTGGAATTATTGGTGCAGACA TTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTTTGAT GGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGC TCACAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTT TTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTG AACTCCTGATCTCAGGTGATCTGCCCACCTTGGCCTGCCACAGTGCTGGG ATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCATTCTTTTTT TTTTTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGT GTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGA AGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGA GGACCCCGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAG GGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAA CAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACA GCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAG GATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCT CCCATGTCTACTTCTTTCGGAATGTAGGGGAATTTTCT		RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4						chr6	TogoVar
ROBO2_chr3_77035099_77654964	77322971	T T	TTATATTA others(857): Show TTATATTATATTATGGATAATATAATATAATATATTATATTATGGATAAT ATAATATATTATATTATATTATGGATAATCTAATATATTATATTATATTA TGGATAATCTAATATATTATATTATATTATGGATAATCTAATATATTATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATAGTATATTA TGGATAATATAATATATTATATTATGGATAATATAATATATTATATAATA TATTATATTATGGATAATATAATATATTATATAATATATTATATTATGGA TAATATAATATATTATATAATATATTATATTATGGATAATATAATATATT ATATAATATATTATATTATGGATAATATAATATATTATATATTATATTAT ATTATGGATAATATAATATATTATATATTATATTATATTATGGATAATAT AATATATTATATTATATTATGGATAATATAATATATTATATTATATTATG GATAATATAATATAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0104 a0001c0003t0002g0104	1	160	0.0063	864	c.389 others(885): Show c.389-154415_389-154414insATATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATCTAATATATTATATTATATTATGG ATAATCTAATATATTATATTATATTATGGATAATCTAATATATTATATTA TATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAGTATATTATGG ATAATATAATATATTATATTATGGATAATATAATATATTATATAATATAT TATATTATGGATAATATAATATATTATATAATATATTATATTATGGATAA TATAATATATTATATAATATATTATATTATGGATAATATAATATATTATA TAATATATTATATTATGGATAATATAATATATTATATATTATATTATATT ATGGATAATATAATATATTATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATAATATATTATATTATGGATAATATAATATA		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77355126	C C	CGCATACC others(857): Show CGCATACCCTAGGAGCTCTGTCACATACCTTTATGATCAACCCTTCCTCC CATCCGCATACCCTAGGAGCTCTATCACATACCTTTATGATCAACCCTTC TTCCCATCCGCATACCCCAGGAGCTCTATCACATACCTTTATGATCAACC CTTCCTGCCATCCCCATATCCTAGGAGTTCTATCATATACTTTTATGATC AACCCTTCTTCCCATCCGCATACCCTAGGAGCTCTGTTACATACCTTTAT GATCAACCCTTCCTCCCATCCCCATACCCTAGGAGTTCTATCACATACCT TTATGATCAACCCTTCTTCCCATCCACATACCCTAGGAGCTCTATCACAT ATATTTATGATCAACCCTTCCTCCCATCCGCATACCCCAGGAGCTCTATC ACATACCTTTATGATCAACCCTTCCTCCCATCCCCATACCCTAGGAGTTC TATCACATACCTTTATGATCAACCCTTCTTCCCATCCACATACCCTAGGA GCTCTATCACATATATTTATGATCAACCCTTCCTCCCATCCGCATACCCC AGGAGCTCTATCACATATATTTATGATCAACCCTTCCTCCCATCCGCATA CCCCAGGAGCTCTATCACATACCTTTATGATCAACCCTTCCTCCCATCCC CATACCCTAGGAGTTCTATCACATACCTTTATGATCAACCCTTCCTCCCA TCCCCATACCCTAGGGGTTCTATCACATACCTTTATGATCAACCCTTCCT CCCATCCCCATACCCTAGGAGGTCTATCACATATCTTTATGATCAACCCT TCCTCCCATCCCCATACCCCAGGAGTTCTATCACATACCTTTATGATCAA CTGTTCTTCCCATCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG01081.hp2 others(23): Show HG00140.hp1 HG01071.hp1 HG01081.hp2 HG01123.hp2 HG01243.hp2 HG01516.hp1 HG02056.hp2 HG02109.hp1 HG02145.hp1 HG02895.hp2 HG02896.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03654.hp1 HG03710.hp1 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18945.hp1 NA18960.hp1 NA18986.hp2 NA19030.hp1 NA19043.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0028 a0001c0001t0035 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0015 a0001c0002t0024 a0001c0003t0002 a0001c0003t0019 a0001c0008t0001 a0003c0006t0002	a0001c0001t0001g0017 a0001c0001t0001g0055 a0001c0001t0001g0075 others(23): Show a0001c0001t0001g0017 a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0002g0097 a0001c0001t0003g0029 a0001c0001t0004g0010 a0001c0001t0004g0024 a0001c0001t0005g0129 a0001c0001t0006g0019 a0001c0001t0028g0084 a0001c0001t0035g0041 a0001c0001t0037g0011 a0001c0002t0001g0007 a0001c0002t0001g0035 a0001c0002t0001g0040 a0001c0002t0001g0151 a0001c0002t0002g0002 a0001c0002t0002g0027 a0001c0002t0002g0049 a0001c0002t0015g0012 a0001c0002t0015g0013 a0001c0002t0024g0001 a0001c0003t0002g0104 a0001c0003t0019g0111 a0001c0008t0001g0005 a0003c0006t0002g0092	26	160	0.1625	864	c.389 others(885): Show c.389-122288_389-122287insGCATACCCTAGGAGCTCTGTCACA TACCTTTATGATCAACCCTTCCTCCCATCCGCATACCCTAGGAGCTCTAT CACATACCTTTATGATCAACCCTTCTTCCCATCCGCATACCCCAGGAGCT CTATCACATACCTTTATGATCAACCCTTCCTGCCATCCCCATATCCTAGG AGTTCTATCATATACTTTTATGATCAACCCTTCTTCCCATCCGCATACCC TAGGAGCTCTGTTACATACCTTTATGATCAACCCTTCCTCCCATCCCCAT ACCCTAGGAGTTCTATCACATACCTTTATGATCAACCCTTCTTCCCATCC ACATACCCTAGGAGCTCTATCACATATATTTATGATCAACCCTTCCTCCC ATCCGCATACCCCAGGAGCTCTATCACATACCTTTATGATCAACCCTTCC TCCCATCCCCATACCCTAGGAGTTCTATCACATACCTTTATGATCAACCC TTCTTCCCATCCACATACCCTAGGAGCTCTATCACATATATTTATGATCA ACCCTTCCTCCCATCCGCATACCCCAGGAGCTCTATCACATATATTTATG ATCAACCCTTCCTCCCATCCGCATACCCCAGGAGCTCTATCACATACCTT TATGATCAACCCTTCCTCCCATCCCCATACCCTAGGAGTTCTATCACATA CCTTTATGATCAACCCTTCCTCCCATCCCCATACCCTAGGGGTTCTATCA CATACCTTTATGATCAACCCTTCCTCCCATCCCCATACCCTAGGAGGTCT ATCACATATCTTTATGATCAACCCTTCCTCCCATCCCCATACCCCAGGAG TTCTATCACATACCTTTATGATCAACTGTTCTTCCCATCT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27						chr3	TogoVar
ROBO2_chr3_77035099_77654964	77355126	C C	CGCATACC others(857): Show CGCATACCCTAGGAGCTCTGTCACATACCTTTATGATCAACCCTTCCTCC CATCCGCATACCCTAGGAGCTCTATCACATACCTTTATGATCAACCCTTC TTCCCATCCGCATACCCCAGGAGCTCTATCACATACCTTTATGATCAACC CTTCCTGCCATCCCCATATCCTAGGAGTTCTATCATATACTTTTATGATC AACCCTTCTTCCCATCCGCATACCCTAGGAGCTCTGTTACATACCTTTAT GATCAACCCTTCCTCCCATCCCCATATCCTAGGAGTTCTATCACATACCT TTATGATCAACCCTTCTTCCCATCCACATACCCTAGGAGCTCTATCACAT ATATTTATGATCAACCCTTCCTCCCATCCGCATACCCCAGGAGCTCTATC ACATACCTTTATGATCAACCCTTCCTCCCATCCCCATACCCTAGGAGTTC TATCACATACCTTTATGATCAACCCTTCTTCCCATCCACATACCCTAGGA GCTCTATCACATATATTTATGATCAACCCTTCCTCCCATCCGCATACCCC AGGAGCTCTATCACATATATTTATGATCAACCCTTCCTCCCATCCGCATA CCCCAGGAGCTCTATCACATACCTTTATGATCAACCCTTCCTCCCATCCC CATACCCTAGGAGTTCTATCACATACCTTTATGATCAACCCTTCCTCCCA TCCCCATACCCTAGGGGTTCTATCACATACCTTTATGATCAACCCTTCCT CCCATCCCCATACCCTAGGAGGTCTATCACATATCTTTATGATCAACCCT TCCTCCCATCCCCATACCCCAGGAGTTCTATCACATACCTTTATGATCAA CTGTTCTTCCCATCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01516.hp2 HG01361.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0045 a0001c0001t0003 a0001c0001t0045	a0001c0001t0003g0140 a0001c0001t0045g0072 a0001c0001t0003g0140 a0001c0001t0045g0072	2	160	0.0125	864	c.389 others(885): Show c.389-122288_389-122287insGCATACCCTAGGAGCTCTGTCACA TACCTTTATGATCAACCCTTCCTCCCATCCGCATACCCTAGGAGCTCTAT CACATACCTTTATGATCAACCCTTCTTCCCATCCGCATACCCCAGGAGCT CTATCACATACCTTTATGATCAACCCTTCCTGCCATCCCCATATCCTAGG AGTTCTATCATATACTTTTATGATCAACCCTTCTTCCCATCCGCATACCC TAGGAGCTCTGTTACATACCTTTATGATCAACCCTTCCTCCCATCCCCAT ATCCTAGGAGTTCTATCACATACCTTTATGATCAACCCTTCTTCCCATCC ACATACCCTAGGAGCTCTATCACATATATTTATGATCAACCCTTCCTCCC ATCCGCATACCCCAGGAGCTCTATCACATACCTTTATGATCAACCCTTCC TCCCATCCCCATACCCTAGGAGTTCTATCACATACCTTTATGATCAACCC TTCTTCCCATCCACATACCCTAGGAGCTCTATCACATATATTTATGATCA ACCCTTCCTCCCATCCGCATACCCCAGGAGCTCTATCACATATATTTATG ATCAACCCTTCCTCCCATCCGCATACCCCAGGAGCTCTATCACATACCTT TATGATCAACCCTTCCTCCCATCCCCATACCCTAGGAGTTCTATCACATA CCTTTATGATCAACCCTTCCTCCCATCCCCATACCCTAGGGGTTCTATCA CATACCTTTATGATCAACCCTTCCTCCCATCCCCATACCCTAGGAGGTCT ATCACATATCTTTATGATCAACCCTTCCTCCCATCCCCATACCCCAGGAG TTCTATCACATACCTTTATGATCAACTGTTCTTCCCATCT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27						chr3	TogoVar
RPTOR_chr17_80539838_80971368	80744459	A A	ACTAGCAC others(857): Show ACTAGCACAGCCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTG TCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGG TTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCC CTGGCTACTAGCAGAGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCAC AGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTA GCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTG TCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG CTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACGA GCACAGCCCTGGTTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0070 a0001c0093t0070	a0001c0093t0070g0155 a0001c0093t0070g0155	1	196	0.0051	864	c.655 others(881): Show c.655-9534_655-9533insGCTAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACGAGCACAGCC CTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCAC AGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCAGAGCCCTGGTTACTA GCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCT ACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGC ACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTT ACGAGCACAGCCCTGGTTGCTAGCACAGCCCTGGTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744523	C C	CCCTGGTT others(857): Show CCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATC CTGGTTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCAG AGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTA GCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTAC TAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTGCTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGTACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACAGCCCTGGTT ACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTGCTAGCACAGCCCT GGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0083 a0001c0083	a0001c0083t0028 a0001c0083t0028	a0001c0083t0028g0158 a0001c0083t0028g0158	1	196	0.0051	864	c.655 others(881): Show c.655-9482_655-9481insTTGCTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCT GGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGCTACTAGCAGAG CCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGC ACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAG AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGT ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG TTGCTAGCACAGCCCTGGTTACTAGCACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744847	T T	TCCTGGCT others(857): Show TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGCTACTAGTACAGCCCTGGTTACTAGCACTATCCTGG CTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACTGTCCTGGTTACTAGTACAGCCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAG CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT GCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGTACAGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0070 a0001c0093t0070	a0001c0093t0070g0155 a0001c0093t0070g0155	1	196	0.0051	864	c.655 others(881): Show c.655-9148_655-9147insAGCCCTGGTTACTAGCACTATCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGCTACTAGTACAGCCCTGGTTACTAGCACTA TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGG CTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGTTACTAGTACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTA GTACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCT GGTTACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGTACAGCCCTGGCTACTAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(857): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGAGAAACAGGTGCTAGGACACTG TGGGGACGTCCCAGATGCCGGGCAGTGGAGACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGGAG GAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAGGA GGAGGAGGAACAGGAGGAGGAGGAGAACAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAG GAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGGCAG TGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGATGCC AGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAG GAGGACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAG GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAG GAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGA GGAGGCACAGGAGGA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0185 a0001c0007t0001g0185	1	203	0.0049	864	c.-12 others(883): Show c.-127+9348_-127+9349insTCCTCCTGTGCCTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTCCTCCTGTGCCT CCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTCCTCCTCCTCCTTCT CCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGGA CGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTCC TGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGC ATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCCT GTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTC CTCCTCCTCCTGTTCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCT GTTCTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTGTCTCCACTGCCCGGCATCTGGGACGTCCCCACAGTGTCCTAG CACCTGTTTCTCTCCTCCTCCTCCTCCTGCTCCTCCTC		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31						chr19	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(857): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTC GGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTAAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCTGG CCAGCCGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0079 a0002c0002t0003g0079	1	370	0.0027	864	c.284 others(883): Show c.284+18969_284+18970insGGACGGGGCGGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC		SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23						chr3	TogoVar
SERINC2_chr1_31408213_31439678	31431966	A A	ATAGGGTG others(857): Show ATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTG GATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGC ATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGCATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGCAGAGGGTGCAGAGGGT GCAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGTTA GGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAG GGTGGAGAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0328 a0002c0002t0001g0328	1	376	0.0027	864	c.101 others(881): Show c.1014-975_1014-974insTTAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGCATAGG GTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGCATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGCAGAGGGTGCAGAGGGTGCAGA GGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGG AGAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432003	T T	TAGGGTGG others(857): Show TAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGACAGGG TGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAG GGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAGAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGT TAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTT AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAG GGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGG GTGGTTAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0221 a0002c0006t0008g0221	1	376	0.0027	864	c.101 others(881): Show c.1014-957_1014-956insTTAGGGTGGATAGGGTGGTTAGGGTGGT TAGGGTGGACAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGTTA GGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGACAG GGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGTTAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGT TAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTG GATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432129	T T	TAGGGTGG others(857): Show TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGAGAGGGTGGACAGGGTGGTTAGGGTGGAGAGGGTGGTTAGGGT GGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGTTAGAGTGGAGAGAGTGGACAGGGTGGAGAGGGTG GAGAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGAGAG AGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGG GTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0001	1	376	0.0027	864	c.101 others(881): Show c.1014-830_1014-829insTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGAGAGGGTGGACAGGGTGGTTAGGGTGGAGA GGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGAGAGAGTGGACAG GGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAG AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGG ACAGGGTGGAGAGAGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGA GAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGA		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRXN1_chr20_641615_658200	642271	G G	GGCCCAGC others(857): Show GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCG GGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGG GGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGTGGT GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	422	0.0024	864	c.64 others(875): Show c.6442_*6443insGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCC CCGCTGGGCACCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGC		SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding					4343		chr20	TogoVar
SYNPR_chr3_63273308_63621924	63595831	A A	ATAATTTT others(857): Show ATAATTTTATATATATATAGTTTTATATATATATATAATTTTATATATAT ATAGTTTTATATATATATATAATTTTATATATATATAGTTTTATATATAT ATATAATTTTATATATATATAGTTTTATATATATATATAATTTTATATAT ATATAGTTTTATATATATATATATAATTTTATATATATATAGTTTTATAT ATATATATATAATTTTATATATATATAGTTTTATATATATATATATAATT TTATATATATATAGTTTTATATATATATATAATTTTATATATATATAGTT TTATATATATATATATAATTTTATATATATATAGTTTTATATATATATAT AATTTTATATATATATAGTTTTATATATATATATATATAATTTTATATAT ATATAGTTTTATATATATATATATATAATTTTATATATATATAGTTTTAT ATATATATATAATTTTATATATATATAGTTTTATATATATATATAATTTT ATATATATATAGTTTTATATATATATATATAATTTTATATATATATAGTT TTTTATATATATAATTTTATATATATATAGTTTTATATATATATATAATT TTATATATATATAGTTTTATATATATATATAATTTTATATATATATAGTT TTATATATATATATAATTTTATATATATATAGTTTTATATATATATATAT ATAATTTTATATATATATAGTTTTATATATATATATATAATTTTATATAT ATATAGTTTTATATATATATATAATTTTATATATATATAGTTTTATATAT ATATATAATTTTATATATATATATAATTTTATATATATATATAATTTTAT ATATATATATAATTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	246	0.0041	864	c.409 others(883): Show c.409-13294_409-13293insTAATTTTATATATATATAGTTTTATA TATATATATAATTTTATATATATATAGTTTTATATATATATATAATTTTA TATATATATAGTTTTATATATATATATAATTTTATATATATATAGTTTTA TATATATATATAATTTTATATATATATAGTTTTATATATATATATATAAT TTTATATATATATAGTTTTATATATATATATATAATTTTATATATATATA GTTTTATATATATATATATAATTTTATATATATATAGTTTTATATATATA TATAATTTTATATATATATAGTTTTATATATATATATATAATTTTATATA TATATAGTTTTATATATATATATAATTTTATATATATATAGTTTTATATA TATATATATATAATTTTATATATATATAGTTTTATATATATATATATATA ATTTTATATATATATAGTTTTATATATATATATAATTTTATATATATATA GTTTTATATATATATATAATTTTATATATATATAGTTTTATATATATATA TATAATTTTATATATATATAGTTTTTTATATATATAATTTTATATATATA TAGTTTTATATATATATATAATTTTATATATATATAGTTTTATATATATA TATAATTTTATATATATATAGTTTTATATATATATATAATTTTATATATA TATAGTTTTATATATATATATATATAATTTTATATATATATAGTTTTATA TATATATATATAATTTTATATATATATAGTTTTATATATATATATAATTT TATATATATATAGTTTTATATATATATATAATTTTATATATATATATAAT TTTATATATATATATAATTTTATATATATATATAATTT		SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5						chr3	TogoVar
TERT_chr5_1248167_1300068	1273262	A A	ACACATCA others(857): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACATCAGACCCCACAACCGCCATCCACAGTCACATCAGACCCCCACAACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAG ACCCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATC CACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	392	0.0026	864	c.228 others(881): Show c.2287-983_2287-982insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTC TGATGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
THBS2_chr6_169210785_169258846	169242634	A A	ACTCCCAC others(857): Show ACTCCCACCTTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCAT CTTCCCATCTTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACC ACTCCCACCTTCCCACCTTCCCACCTTCCCATCTTCCCACCTTCCCACCA CTCCCACCTTCCCACCACTCCCACCTTCCCACATTCCCACCTTCCCACAT TCCCACCTTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCA CTCCCACCTTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTT CCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTT CCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTC CCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTCC CACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCC CACATTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCC ACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCA CCTTCCCACCGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCAC CTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACC ACTCCCACCTTCCCACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACC TTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACCT TCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCCCACCTT CCCATCTTCCCACCG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0034 a0008c0034	a0008c0034t0001 a0008c0034t0001	a0008c0034t0001g0249 a0008c0034t0001g0249	1	396	0.0025	864	c.695 others(879): Show c.695-677_695-676insCGGTGGGAAGATGGGAAGGTGGGAAGGTGG GAGTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGG GAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGG AAGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGA ATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAA TGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAG GTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGG TGGGAAGGTGGGAGTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGT GGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGAT GGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTG GGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGGTGGGAAGGTGG GAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGG GAAGATGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGG AGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAATGTGGGAAGGTGGG AATGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGG AAGATGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGATGGGAAGGTGGGAG TGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAG		THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21						chr6	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(857): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATATACTATATCATCATATGATATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0073 a0001c0001t0087g0073	1	174	0.0058	864	c.41- others(881): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATACTATATCATCATATGATATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGAT		TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
U2AF2_chr19_55650035_55679716	55670466	C C	CCGTGCAC others(857): Show CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCGGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCTG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTG TCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCC CGTGCACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	394	0.0025	864	c.129 others(881): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCATGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCT GCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTC		U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
U2AF2_chr19_55650035_55679716	55670466	C C	CCGTGCAC others(857): Show CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCGGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCTG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTG TCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCC CGTGCACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp1 HG03209.hp1 HG01891.hp1 HG02723.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199	3	394	0.0076	864	c.129 others(881): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCATGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCT GCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTC		U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(857): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCTTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCGCT CCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCT CCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCTGCTCCTCTCCC CTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCG CTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCG CTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCC CTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCC CTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCC CTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCC CTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCGCCCCTCCC CTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTC CTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	202	0.0050	864	c.53 others(875): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGCGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCAGAGGAGA GGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGG GAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAAGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGACAGAGGAGGAGAGAGGAG		USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding					3704		chr11	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(857): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTA CTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAT ACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTT GAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTC TTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGT ACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAA GAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTC AAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACT CTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAA TACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	242	0.0041	864	c.917 others(883): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAT ACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTT GAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTC TTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGT ACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAA		WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
AMER2_chr13_25156679_25177288	25159113	T T	TACATGTA others(858): Show TACATGTATATATTATATATTATATGTTTATATATTATATGTATATATTA TATATTATATATTATATATTATATATTATATATTATATATTATATATATT ATATACATATAATATATATTCTCATATATATTATATATACTCATATATAT AATATATATTCTCATATATATTATATATATTCATATATATAATATATATT CTCATATATATATATTATATATTCTCATATATATAATATATATATTCTCA TATATAATATATATTCTCATATATATAATATATACTCATATATTATATAT ATACTCATATATAATGTATATATTCTAATATATAATATATATTTTCTCAT TTATATAATATATATTCTCATATATAATATATATTCTCATATATGACATA TATATATTCTCATATATATTATATATTCTCATATATAATATATATTCTCA TATAATATATTATATATTCTCATATATAATATATTATATGTGCTCATATA TAATATATTATATGTGCTCATATATAATATATTATATATGCTCATATATA ATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAAT ATATTATATATGCTCATATATAATATATTATATATGCTCATATATAATAT ATTATATATGCTCATATATAATATATTATATATGCTCATATATATTATAT ATGCTCATATATTATATATGCTCATATATAATATATTATATATGCTCATA TATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCATATA TAATATATTATGTATGCTCATATATAATATATTATGTATGAGCATATATA ATATATTATGTATGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0026 a0004c0004t0026	a0004c0004t0026g0000 a0004c0004t0026g0000	1	416	0.0024	865	c.10 others(878): Show c.10490_*10491insCTCATACATAATATATTATATATGCTCATACA TAATATATTATATATGAGCATACATAATATATTATATATGAGCATACATA ATATATTATATATGAGCATACATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATGAGCATATATAATATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCACATATAATATATTATATATGAGCACATATA ATATATTATATATGAGAATATATAATATATTATATGAGAATATATATTAT ATATGAGAATATATAATATATATGAGAATATATATATGTCATATATGAGA ATATATATTATATATGAGAATATATATTATATAAATGAGAAAATATATAT TATATATTAGAATATATACATTATATATGAGTATATATATAATATATGAG TATATATTATATATATGAGAATATATATTATATATGAGAATATATATATT ATATATATGAGAATATATAATATATATATATGAGAATATATATTATATAT ATGAATATATATAATATATATGAGAATATATATTATATATATGAGTATAT ATAATATATATGAGAATATATATTATATGTATATAATATATATAATATAT AATATATAATATATAATATATAATATATAATATATAATATATACATATAA TATATAAACATATAATATATAATATATACATGT		AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding					2565		chr13	TogoVar

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Search Results (Total: 7053 hits)