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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP9B_chr18_79064394_79383283	79200717	T T	TGGAGGTG others(814): Show TGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGGAGGTGGGAACGTTG GGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGG GGTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGA GGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACGTTGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAA CTGTCGGGGTCAGAGCAGAGGC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0112 a0001c0003t0003g0112	1	298	0.0034	821	c.955 others(838): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGCGGAG GTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAA CGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACT GTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGA GGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTG TCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAG GTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGT CGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGG TGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(814): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTC TCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0313 a0001c0001t0039g0313	1	336	0.0030	821	c.248 others(838): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTT TTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AAGGGGGA others(814): Show AAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAG GGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AGGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0001 a0001c0066t0001	a0001c0066t0001g0151 a0001c0066t0001g0151	1	344	0.0029	821	c.85- others(838): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCT GCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(814): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGTGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGA GGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGGGAGGGGAGGGGGG GAGGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGAGGG GGAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAA GGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGG AAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGA CAGAGGGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0207 a0001c0001t0010g0207	1	216	0.0046	821	c.923 others(840): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCT CCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCC CCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCACTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCC CTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DPEP1_chr16_89608642_89643433	89635050	C C	CCCTTTCC others(814): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCC TTCCTTCCCTTTCCCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	250	0.0040	821	c.105 others(836): Show c.105-858_105-857insCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCC CTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
EEF1A2_chr20_63483014_63504083	63486887	C C	CCTGCCCA others(814): Show CCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCC ACCCTCCACCCGACCCTCCTCTTCATCCTCAGGGAACCTGCCCACCCTCC ACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCAC CCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCGACCCTCCT CCGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGCATC CTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGG AACCTGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGC CCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCT CCACCCTGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCC CACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCT CCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGC ATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCA GGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCC TGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCAT CCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCTTCCAC CCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAGACC CTCCTCTGCATCCTCAGGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	374	0.0027	821	c.14 others(832): Show c.1410_*1411insCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTGGA GGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAAGGTGGG CAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGATGGGCAGGTTC CCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGG ATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGA GGAGGGTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGATGCGGAGGAGGGT GGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCAGAGGAGGGTCAGGGTG GAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTG GGCAGCTTCCCTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGG TTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTG AGGATGCGGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGC GGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAG GGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGG GTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCA GGTTCCCTGAGGATGAAGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCC TGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1126		chr20	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(814): Show GTATATACATATAAATATATATGTATATACATATAAATATATATGTATAT AAATATAAATATATATGTATATAAATATATATGTATGTATATTATATACA TATAAATATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATATTTATATACATATAAATA TATATTTATATACATATAAATATATATTTATATACATATAAATATATATT TATATACATATAAATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAT ACATATACATATATACATATAAATATATATTTATATACATATAAATATAT ATATATTTTATATATATTTATATATATATATTTATATATATATAAATATA TATATATATTTATATATATATAAATATATATATATTTTTATATATATACA TATAAATATATATTTATATACATATAAATATATAATTATATACATATAAA TATATATTTATATACATATAAATATATATAATTATATACATATAAATATA TATTTATATATATATAAATATATATTTATATACATATAAATTTATATACA TATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0196 a0003c0003t0001g0196	1	292	0.0034	821	c.49 others(832): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATATATATAAATATATATTTATATG TATATAATTATATATATTTATATGTATATAAATATATATTTATATGTATA TAATTATATATTTATATGTATATAAATATATATTTATATGTATATATATA AAAATATATATATATTTATATATATATAAATATATATATATATTTATATA TATATAAATATATATATATAAATATATATAAAATATATATATATTTATAT GTATATAAATATATATTTATATGTATATATGTATATGTATTATATGTATA TAAATGTATATATTTATATGTATGTAAATATATATTTATATGTATGTAAA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATAAATATATATTTATATGTATATAAATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATATTTATATGTATATA AATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATATTTATATGTATATAAATATATATATTTATATGTATATAATAT ACATACATATATATTTATATACATATATATTTATATTTATATACATATAT ATTTATATGTATATACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FMN2_chr1_240086883_240480187	240185033	C C	CCCCTTCT others(814): Show CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATA CCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATACCTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0082 a0013c0020t0001g0082	1	174	0.0058	821	c.193 others(840): Show c.1931-3171_1931-3170insTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCT CCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCC TTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GLT1D1_chr12_128848478_128989968	128866235	A A	ATTTTTTA others(814): Show ATTTTTTATATTTTTTTTTTTTTTTTTTTTTGAGTTTCAGGAGCAGAAAG TTTAATAGACAAAAGACAGAAGAGAGAGAGGGAGAGAGAGAGCTTCCTCC TGCGGAGAAAGTGGGTCACCATAGCAGGTTTCCAGGTTTGGGGCAGAATG TGATCAATTTTATAGAGAGGCTTGAGGAGGCAGTGATTGATTTATATATG TCCCAGGAAATTGGTTTGACCAGGTGTGGCATTTACATAGCACACGAGGA AACTGGCCCTCCCACACTAATCTTATTATGCAAATGTGGACACCCACATG CATGGTGACAAAGTAAAGGGAGAGGGAATCGCCACTTTGAGTGTACTTGG CTTTTAGTATAGCTGCTGGCATTTACATATGCAAACTTCCAGCTTGCTTA TCTATGCTTGCAGTTTGACTTTTCAGGCTGCTTTCTTTTAGAAAAGAGAT GGTTTTTTGGCTGCTTTTCATTGAAGGAAAATTCCACCGAGAACTCTTTT ACCCTTGCTAACTGCCTAAAATATATATATATATTTTTTTTTATTATACT CTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTAT ACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTA GGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGT CCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCA ATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTTGTTCTTGC GATAGTTTACTGAGAATGATGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	320	0.0031	821	c.69- others(836): Show c.69-9664_69-9663insTTTTTTTTTTTTTTTGAGTTTCAGGAGCAG AAAGTTTAATAGACAAAAGACAGAAGAGAGAGAGGGAGAGAGAGAGCTTC CTCCTGCGGAGAAAGTGGGTCACCATAGCAGGTTTCCAGGTTTGGGGCAG AATGTGATCAATTTTATAGAGAGGCTTGAGGAGGCAGTGATTGATTTATA TATGTCCCAGGAAATTGGTTTGACCAGGTGTGGCATTTACATAGCACACG AGGAAACTGGCCCTCCCACACTAATCTTATTATGCAAATGTGGACACCCA CATGCATGGTGACAAAGTAAAGGGAGAGGGAATCGCCACTTTGAGTGTAC TTGGCTTTTAGTATAGCTGCTGGCATTTACATATGCAAACTTCCAGCTTG CTTATCTATGCTTGCAGTTTGACTTTTCAGGCTGCTTTCTTTTAGAAAAG AGATGGTTTTTTGGCTGCTTTTCATTGAAGGAAAATTCCACCGAGAACTC TTTTACCCTTGCTAACTGCCTAAAATATATATATATATTTTTTTTTATTA TACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATAT GTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGC ATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCA CAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTG TTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTTGTTC TTGCGATAGTTTACTGAGAATGATGGTTTTTTATATTTTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GPR35_chr2_240620480_240638159	240626032	T T	TGGGGGTC others(814): Show TGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGT GAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCA GAGAGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGAT GGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGTTCTCAGAGCGGGGTGAG GCTATGATGGGGTCTCAGAGCGGGGTGAGTCTCTGACGGGGTCTCAGAGC GGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGT CTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTGT GACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGTGGGGT GAGGCTCTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGTCTCAG AGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATG GGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGA AGCTCTGATGGGGTCTCAGAGCGGGGCGAGGCTGTGAGGGGTTCTCAGAG CGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGG TCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTG TGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGG TGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGGTCTC AGAGCGGGGTGAGGCTGTGATG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	400	0.0025	821	c.-5+ others(834): Show c.-5+468_-5+469insGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGT CTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGT GATGGGGGTCTCAGAGAGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGG GTGAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGTTCTC AGAGCGGGGTGAGGCTATGATGGGGTCTCAGAGCGGGGTGAGTCTCTGAC GGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAG GCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGC GGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGT CTCAGAGTGGGGTGAGGCTCTGATGGGGTCTCAGAGTGGGGTGAGGCTGT GACGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGG TGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCT CAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGCGAGGCTGTGA GGGGTTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGA GGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAG CGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGG TCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTG TGATGGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33322237	T T	TATATATA others(814): Show TATATATATGGAATACATATATGGAATATATATATATGGAATATATATAT GCAATATATATATATGGAATATATATATGGAATATATATAGAATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATACATGGAATATATATATGGAATATATACATGGAAT ATATATATGGAATATATACATGGAATATATGTATATGGAATATATACATG GAATATATGTATATGGAATATATACATGGAATATATGTATATGGAATATA TACATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGG AATATATACATGGAATATATGTATATGGAATATATACATGGAATATATAT ATGGAATATATACATGGAATATATATATGGAATATATACATGGAATATAT ATATATGGAATATATACATGGAATATATATATATGGAATATATACATGGA ATATATATATATGGAATATATACATGGAATATATATATATGGAATATATA CATGGAATATATATATATGGAATATATATATGGAATATATACATGGAATA TATACATGGAATATATACATGGAATATATACATGGAACATATATATATGG AACATATACGGAATATATATATGGAATATATATACGGAATATATATATAT ATGGAATATATATACGGAATATATATATGGAATATATATACGGAATATAT ATATATGGAATATATATACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0234	1	323	0.0031	821	c.-28 others(832): Show c.-2819_-2818insATATATATGGAATACATATATGGAATATATATAT ATGGAATATATATATGCAATATATATATATGGAATATATATATGGAATAT ATATAGAATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATACATGGAATATATATATGGA ATATATACATGGAATATATATATGGAATATATACATGGAATATATGTATA TGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATATA TGTATATGGAATATATACATGGAATATATGTATATGGAATATATACATGG AATATATGTATATGGAATATATACATGGAATATATGTATATGGAATATAT ACATGGAATATATATATGGAATATATACATGGAATATATATATGGAATAT ATACATGGAATATATATATATGGAATATATACATGGAATATATATATATG GAATATATACATGGAATATATATATATGGAATATATACATGGAATATATA TATATGGAATATATACATGGAATATATATATATGGAATATATATATGGAA TATATACATGGAATATATACATGGAATATATACATGGAATATATACATGG AACATATATATATGGAACATATACGGAATATATATATGGAATATATATAC GGAATATATATATATATGGAATATATATACGGAATATATATATGGAATAT ATATACGGAATATATATATATGGAATATATATACGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2732		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322429	T T	TATATATG others(814): Show TATATATGGAATATATATATGGAATATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATATGTGGAATATATATATGGAATATATAT ATATGTGGAATATATATATGGAATATATATATGGAATATATACATGGAAT ATATGTATATGGAATATATACATGGAATATATGTATATGGAATATATACA TGGAATATGTGTATATGGAATATATACATGGAATATGTGTATATGGAATA TATACATGGAATATATATATGGAATATATACATGGAATATATATATGGAA TATATACATGGAATATATATATATGGAATATATACATGGAATATATATAT ATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATAT ATATATATAGAATATATACATGGAATATATATATGGAATATATACATGGA ATATATATATATGGAATATATACATGGAATATATACATGGAATATATACA TGGAACATATACATGGAATATATACATGGAACATATACATGGAATATATA TATATGGAACATATACGGAATATATATATGGAATATATATACGGAATATA TATATATGGAATATATATACGGAATATATATATGGAATATATATACGGAA TATATATATATGGAATATATATACGGAATATATATATATGGAATATATAT ACGGAATATATATATGGAATATATATATGGAATATGTATATGGAATATAT ATATATGGAATATGTATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	323	0.0031	821	c.-26 others(832): Show c.-2627_-2626insATATATGGAATATATATATGGAATATATATGGAA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATATGTGGAATATAT ATATGGAATATATATATATGTGGAATATATATATGGAATATATATATGGA ATATATACATGGAATATATGTATATGGAATATATACATGGAATATATGTA TATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATA TGTGTATATGGAATATATACATGGAATATATATATGGAATATATACATGG AATATATATATGGAATATATACATGGAATATATATATATGGAATATATAC ATGGAATATATATATATGGAATATATACATGGAATATATATATATGGAAT ATATACATGGAATATATATATATAGAATATATACATGGAATATATATATG GAATATATACATGGAATATATATATATGGAATATATACATGGAATATATA CATGGAATATATACATGGAACATATACATGGAATATATACATGGAACATA TACATGGAATATATATATATGGAACATATACGGAATATATATATGGAATA TATATACGGAATATATATATATGGAATATATATACGGAATATATATATGG AATATATATACGGAATATATATATATGGAATATATATACGGAATATATAT ATATGGAATATATATACGGAATATATATATGGAATATATATATGGAATAT GTATATGGAATATATATATATGGAATATGTATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2540		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323228	T T	TATGGAAT others(814): Show TATGGAATATATATACATGGAATATATATACATGGAATATATATACATGG AATATATATACATGGAATATATATACATGGAATATATATACATGGAATAT ATATACATGGAATATATACATGGAATATATATATGGAATGTTTATATGGA ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATATGGAATATAT ATACATGGAATATATATATGGAATATATATACATGGAATATATATATGGA ATATATATACATGGAATATATATATGGAATATATATACATGGAATATATA TATGGAATATATATACATGGAATATATATATGGAATATATATACATGGAA TATATATATGGAATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	323	0.0031	821	c.-18 others(832): Show c.-1828_-1827insATGGAATATATATACATGGAATATATATACATGG AATATATATACATGGAATATATATACATGGAATATATATACATGGAATAT ATATACATGGAATATATATACATGGAATATATACATGGAATATATATATG GAATGTTTATATGGAATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATATGGAATATATATACATGGAATATATATATGGAATATATATACATG GAATATATATATGGAATATATATACATGGAATATATATATGGAATATATA TACATGGAATATATATATGGAATATATATACATGGAATATATATATGGAA TATATATACATGGAATATATATATGGAATATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1741		chr21	TogoVar
LRRC27_chr10_132327193_132386508	132364365	G G	GCTTACAC others(814): Show GCTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACGCCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACGCTTACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACGCTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCAC GCTTACATCTACCACACCCACACTTACACCCACGCTTACATCTACCTCCA CGCCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTTACA CCCACCCTTACATCTACCTCCACACCCACACTTACATCCACCCACACTTA CACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACT TACACCCACCCTTACATCTACCTCCACGCCCACACTTACACCCACCCTTA CATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCT TACATCTACCTCCACACCCACA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0283 a0001c0009t0002g0283	1	290	0.0035	821	c.129 others(840): Show c.1290-1048_1290-1047insACTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTTACACCC ACGCTTACATCTACCTCCACACCCACGCTTACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACGCTTACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCAC ACTTACACCCACGCTTACATCTACCACACCCACACTTACACCCACGCTTA CATCTACCTCCACGCCCACACTTACACCCACGCTTACATCTACCTCCACG CCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACATC CACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACA CCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTTA CACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACT TACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(814): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCCTCTCT CTCCTCCTCCCTCCCTCCCCTCCTCCTCCCCTCCCCTCTCCCTCTCCTCC TCTCCTCCCCTCTCCTCCCTCTCTCCCCTCCCTCTCCCCTCTCCTCCCTC TCCTCTTTCCTCTTCCCCTCCTTCCTCCCCTCCCTCTCCCCTCCCTTCCC CTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTC TCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTC TCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTC CCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTC TCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTC CCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTC CTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTC CTCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTC CTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCAC CCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTC CTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0050 a0002c0002t0011g0050	1	318	0.0031	821	c.-49 others(832): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGG GAGAGGGAGGGGAGGAAGGAGGGGAAGAGGAAAGAGGAGAGGGAGGAGAG GGGAGAGGGAGGGGAGAGAGGGAGGAGAGGGGAGGAGAGGAGGAGAGGGA GAGGGGAGGGGAGGAGGAGGGGAGGGAGGGAGGAGGAGAGAGAGGGAGGA GGAGGGGAGGAGGAGGAGGAGGGGAGGGGGAGGGGAGGGGAGGAGAGAGG AGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGG AGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(814): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAA AGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAA GGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGG ATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGG GGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGG GGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGG GGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGG GGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAG GGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGG AGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGG AGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	272	0.0037	821	c.250 others(836): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC CTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCCTCCCCT CACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCC TTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTT CCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTT CCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTC CCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(814): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGG GAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCG GGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGG GGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAG GGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGG GGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGG AGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGGAGGGGAGTGGA GGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGAGGGAGG AGGGATGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGG AGGGAAGGGAGGAGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGG AGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	272	0.0037	821	c.250 others(836): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCTCCTCCCTTCCCTCCCCTCCC CCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCATCCCTCCTCCCTC CCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCC CCTCCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCCCCCTCC CTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCCTC CCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCTTCCC CCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCACCCCTTTCCCC TTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCT TTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTT TTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTC CCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCAGGG others(814): Show TCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGAT CCCTCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGAT CCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGAT CCCTCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCA CTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGC ACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGA GCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGGGGGG AGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGG GGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGG GGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGG GGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGG GGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGG GGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGG GGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAG GGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCG GGGGGAGCACTCAGGATCCCTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0321 a0001c0001t0034g0321	1	324	0.0031	821	c.140 others(838): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCCCGACCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC CCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC CCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGAC CCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC CCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCC ACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTC CACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCC TCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCC CTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCC CTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCC CCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTG AGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTG AGTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(814): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGGAGGGGAAGGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGG AGGAGGGGGAGGGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGG GGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGA GGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGG GGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGA GGAGGGGGAGGGGAGGAGGGGGAGGGGAGGGGGAGAGGGGAGGGGAGGGG GGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGA GGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAAAGGAAGGGA GGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAG GAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAG GAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAG GGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAG AGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0185 a0001c0004t0001g0185	1	208	0.0048	821	c.279 others(836): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCC CCTCCTCCCTCCCCTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCTCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCC TCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(814): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTCC CTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0088 a0001c0001t0006g0088	1	326	0.0031	821	c.433 others(838): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGGGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OPRK1_chr8_53220724_53256637	53253023	C C	CTTCATAA others(814): Show CTTCATAAGGAAGATGGCAGACAGTCTTCCCCGCATGTCTGGGAGCTCCT TTCCTGCCACAGTGATCCCATGCTGCCCCCAAACAAACCCAGCAAATAGT TTACTTGAGACTAACAAAAACTGAGTGGTATCAGTGTTAAAAAGAAAGTA AAAATAGTATGTCAAAAGGAAATAAGTGGGAAGTTCAAAATTATCCGTCT ATCTTTTTATCTATTACCTATTTGTCTATTTATCTATGATTCCATGCATC AAAGATACAATTGTGTTTGTGCTATACATTTTTGAAGGTGCCCGTATTTT CTATCTAGGCTTCTTTTGTACTCGTTTACCACATTGGTTGTTTTCTTTGG TTAGTGCACAGGTGGCTCTCACAGCTGGTAATGTTAGATCTGGGTTCAAA CACATATGGCTCTTGCCATATGCTTATTGAATAGAACTATTTCATATAAG GAGACAAATACAGAGCCACTTTTCCCCTCCAAAGACAAAATACATTTAGG AAGGGGATATTCAGCAAAGATGAAAAAAGAAAGGAAAAGTTATTATTTGA AAAGATTTAGGTAAAATTGTAAACAGGTGAAAACCTTTAAAGAAGTTACC AAGTTGATACAATTTCAACAATTCAGACTCTTGAACTCCATTTCTCACAT ATATCATGAGTGCAGAGGGGTTTTCCTTCCATAACAAAAGCAGGGGTACA AGACCAGCCTGGGATTTCTAAACTATAATAGGAGGTTCTCATTCTCATTA TTGATTAAAAAAAAAAGTCCTCTTCTAGTTGAGACAGTCTTTTGAAGGTA AAACAAGACTAATTATGATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02280.hp2 others(11): Show HG02055.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02809.hp2 HG02895.hp1 HG02965.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0005 a0001c0001t0016	a0001c0001t0005g0006 a0001c0001t0005g0218 a0001c0001t0005g0219 others(7): Show a0001c0001t0005g0006 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0016g0216 a0001c0001t0016g0217	14	372	0.0376	821	c.-16 others(832): Show c.-1625_-1624insTTTATCATAATTAGTCTTGTTTTACCTTCAAAAG ACTGTCTCAACTAGAAGAGGACTTTTTTTTTTAATCAATAATGAGAATGA GAACCTCCTATTATAGTTTAGAAATCCCAGGCTGGTCTTGTACCCCTGCT TTTGTTATGGAAGGAAAACCCCTCTGCACTCATGATATATGTGAGAAATG GAGTTCAAGAGTCTGAATTGTTGAAATTGTATCAACTTGGTAACTTCTTT AAAGGTTTTCACCTGTTTACAATTTTACCTAAATCTTTTCAAATAATAAC TTTTCCTTTCTTTTTTCATCTTTGCTGAATATCCCCTTCCTAAATGTATT TTGTCTTTGGAGGGGAAAAGTGGCTCTGTATTTGTCTCCTTATATGAAAT AGTTCTATTCAATAAGCATATGGCAAGAGCCATATGTGTTTGAACCCAGA TCTAACATTACCAGCTGTGAGAGCCACCTGTGCACTAACCAAAGAAAACA ACCAATGTGGTAAACGAGTACAAAAGAAGCCTAGATAGAAAATACGGGCA CCTTCAAAAATGTATAGCACAAACACAATTGTATCTTTGATGCATGGAAT CATAGATAAATAGACAAATAGGTAATAGATAAAAAGATAGACGGATAATT TTGAACTTCCCACTTATTTCCTTTTGACATACTATTTTTACTTTCTTTTT AACACTGATACCACTCAGTTTTTGTTAGTCTCAAGTAAACTATTTGCTGG GTTTGTTTGGGGGCAGCATGGGATCACTGTGGCAGGAAAGGAGCTCCCAG ACATGCGGGGAAGACTGTCTGCCATCTTCCTTATGAA	OPRK1	ENSG00000082556.14	transcript	ENST00000265572.8	protein_coding		1387		chr8	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(814): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGATGACAGTGGTGGTGATGGTGGTGATGACAGT GGTGGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGA TGGTGGTGATGATGGTAGTTGTGGTGGTAGTGATGATGATGATGACAATG ATAATGGTGGTGATGGCGGTGGTGGTGGTAATGGTGATCATGTCAGTGAT GGTGGTGGTGGTGGTAGTGATGGTGATGATAGTCATGATGGTGGTGATGG TGGTGATAGTGGTGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTG ATTATGATAGTAGTGATGGTGATGGCAATGGTAATGGTGATAATGGCGAT GATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAA TGGTGGTGATGACAGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGGTA GTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGAT GGTGGTGATGATGGTAGTTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0076 a0001c0002t0003g0076	1	154	0.0065	821	c.-32 others(842): Show c.-320+55543_-320+55544insCACAACTACCATCATCACCACCAT CACCACCACCACAACTACCATCATCACCACCATCACCACCACCACAACTA CCATCATCACCACCATCACCACCACCACCACCACTGTCATCACCACCATT ATCACTATTATCACCACCGTTACCACCACCACTGCCATCACCACCATCAT CGCCATTATCACCATTACCATTGCCATCACCATCACTACTATCATAATCA CCCTCACCGCCATCACTGCCATCATCACCATTGCCACCACTATCACCACC ATCACCACCATCATGACTATCATCACCATCACTACCACCACCACCACCAT CACTGACATGATCACCATTACCACCACCACCGCCATCACCACCATTATCA TTGTCATCATCATCATCACTACCACCACAACTACCATCATCACCACCATC ACCACCACCACAACTACCATCATCACCACCATCACCACCACCACCACCAC TGTCATCACCACCATCACCACCACTGTCATCACCACCATTATCACTATTA TCACCACCGTTACCACCACCACTGCCATCACCACCATCATTACTATCATC ATCACCATCACCACCATCATCGCCATTATCACCATTACCATCGCCATCAC CACCATCACTACTCTCATAATCACCATCACTGCCATCATCACCATTGCCA TCACTATCACCACCATCATGACTATCATCACCATCACCACCACCACCACC ATCACTGACATATAATCACCATTACCACCACCACCATTATCACTGTCATC ATCATCTCCATCAATACCACCACCATCATCACCACCATCACCACCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(814): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGGTGTGG TGGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATC ACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAG TCCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCG GGAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCG TCTCAAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCA CACCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAG GTCAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGG AGTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTC ACGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCC CGAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATA TTTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	208	0.0048	821	c.137 others(838): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTTGAGACGGCGT CTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTT CACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAG GCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCG CCCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACAC CCCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTA CTATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCA GACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGC GCAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTG GATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(814): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCA CACCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAG GTCAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGG AGTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGTACGATCTCGGCTC ACGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGGCTCAGCCTCC CGAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATA TTTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp1 HG02622.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0129 a0001c0002t0002g0124 a0001c0002t0002g0129	2	208	0.0096	821	c.137 others(838): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGCCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTTTGAGACGGCG TCTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGT TCACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATA GGCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCC GCCCACCTCGGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACA CCCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTA CTATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCA GACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGC GCAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTG GATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(814): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCACA CCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGGT CAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGGATGG AGTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGTACGATCTCGGCTC ACGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCC CGAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATA TTTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03491.hp1 HG01261.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0139 a0001c0001t0006g0140	2	208	0.0096	821	c.137 others(838): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCA GGGGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAG CCACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTGAGACGGCG TCTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGT TCACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATA GGCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCC GCCCACCTCGGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACA CCCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTA CTATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCA GACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGC GCAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTG GATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(814): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCA CACCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAG GTCAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGG AGTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTC ACGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCC CGAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATA TTTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00738.hp2 others(4): Show HG00438.hp1 HG00438.hp2 HG00738.hp2 HG01081.hp1 HG01361.hp1 HG02300.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0012 a0001c0001t0001g0098 a0001c0001t0001g0100 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0151 a0001c0001t0004g0176	7	208	0.0337	821	c.137 others(838): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTTTGAGACGGCG TCTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGT TCACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATA GGCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCC GCCCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACA CCCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTA CTATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCA GACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGC GCAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTG GATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918975	A A	AGGAGGAG others(814): Show AGGAGGAGGAGGGGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAG GAGGAGGAGGAGGAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGG AAGGAGGAGGAGAAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAA GGAGGAGGAAGAGAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGA GAAGGAGGAACAGGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGG AGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAG GAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGA GGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGG AGGAGGAGGAGAGAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAG AAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGC AGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGAAG AGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGG AAGAAAGAGGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAA AAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAG GAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAAT AGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGAAGA GAAGGGAGGAGGAGGAGAGAAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp1 HG06807.hp1 HG03453.hp2 HG03486.hp1 HG06807.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0025 a0005c0019t0001 a0005c0019t0025	a0005c0019t0001g0190 a0005c0019t0025g0191 a0005c0019t0025g0192 a0005c0019t0001g0190 a0005c0019t0025g0191 a0005c0019t0025g0192	3	314	0.0096	821	c.916 others(838): Show c.916+2595_916+2596insCTTCTCTCCTCCTCCTCCCTTCTCTTCT CCTCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTC TCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTT TTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTT CCCCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTC CTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTT TCCCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTT TCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTC CTCCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTC TCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCC CTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTC CTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCT TCTCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTT TCCTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTC CTCCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTCCTTTTC CTCCTCTTTCTCCTCTTCCTCCTCTTCCTTCCCCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(814): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTC CAGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCT GGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCCGCCCAGCCA GCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGG TGGGGGGGGGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	370	0.0027	821	c.284 others(840): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGC TGGGCGGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGACG GGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SLAIN1_chr13_77692687_77769229	77703963	T T	TATGTTTT others(814): Show TATGTTTTATAAGTGTATATATACACATATAAAATATATATACATATGTT TTATAAGTGTATATATACACATAAAATATATATACATATGTTTTATATGT GTATATATACACATAAAATATATATACATATGTTTTATATGTGTATATAT ACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACAT ATAAAATATATATACATATGTTTTATATGTATATACACATATAAAATATA TATACATATGTTTTATATGTGTATATATACACATATAAAATATATATACA TATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTAT ATGTATATATACATATAAAATATATATACATATGTTTTATATGTATATAT ATACATATAAAATATATATACATATAAAATATATACATATAAAATATATA TACATATGTTTTATATGTATATATACATATAAATATATATACATATGTTT TATATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTA TATATATACATAGAAAATATATATACATGTTTTATATGTATATATATACA TAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATAT ATATACATATGTTTTATATGTATATATATACATAGAAAATATATATACAT ACGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTA TATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATA TATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19240.hp1 NA21309.hp2 HG02818.hp1 NA19240.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170	3	300	0.0100	821	c.626 others(838): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTATATACACA TATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAA ATATATATACATATGTTTTATATGTATATATACATATAAAATATATATAC ATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTA TATGTATATATATACATATAAAATATATATACATATAAAATATATACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAATATATA TACATATGTTTTATATGTATATATATACATAGAAAATATATATACATATG TTTTATATGTATATATATACATAGAAAATATATATACATGTTTTATATGT ATATATATACATAGAAAATATATATACATGTTTTATATGTATATATATAC ATAGAAAATATATATACATATGTTTTATATGTATATATATACATAGAAAA TATATATACATACGTTTTATATGTATATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATACATAGAAAATATATATACATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC22A1_chr6_160116815_160163718	160125720	A A	AGGATGTG others(814): Show AGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCC TCTTCTGCTAAGATCATGAGGTCCACTCGGGGGGGATGTGGGCATTTTCC TGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATG AGGTCCACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCA ACAAGAGGATCTCCTCTTCTGCTAAGATCACGAGGTCCACTCGGGGGGGA TGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTG GTGCTAAGATCACGAGGTCCACTCGGGGGAGATGTGGGCATTTTCCTGGC TTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATGAGGT CCACTTGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAA GAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGGGGGATTTG GGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCTTCTGGTGC TAAGATCATGAGGTCCACTCGGGGGGTATGTGGGCATTTTCCTGGCTTTT GACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCAC TCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGG ATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGAGGGATGTGGGCA TTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAG ATCATGAGGTCCACTCAGGGAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	416	0.0024	821	c.411 others(838): Show c.411+3590_411+3591insTCTGCTAAGATCACGAGGTCCACTCGGG GGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTC CTCTGGTGCTAAGATCACGAGGTCCACTCGGGGGAGATGTGGGCATTTTC CTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCAT GAGGTCCACTTGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCC AACAAGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGGGGG ATTTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCTTCT GGTGCTAAGATCATGAGGTCCACTCGGGGGGTATGTGGGCATTTTCCTGG CTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATGAGG TCCACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACA AGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGAGGGATGT GGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTG CTAAGATCATGAGGTCCACTCAGGGAGGGATGTGGGCATTTTCCTGGCTT TTGACTCTCCCAACAAGAGGATCTCCTCTTCTGCTAAGATCATGAGGTCC ACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGA GGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGGGGGATGTGGG CATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCT	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTAT others(814): Show CATATTATATATTATAATATATATTATATATTATAATATATAATATATTA TATATTATAATATATAATATATTATATTTTATAATATATAATATATTATA TTTTATAATATATAATATATTATATTTTATAATATGTAATATATATTATA TTTTATAATATATAATATATTATATTTTATAATATGTAATATATATTATA TTTTATAATATATAATATATATTATATATTATAATATATAATATATATTA TATATTATAATATATAATATATATTACATATTATAATATATAATATATAT TATATATTATAATATATAATATATATTACATATTATAATATATAATATAT TATATTTTATAATATATATAAAATATAATATATTATATTTTATAAAATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATATTATAAAATATAATA TATTATATATTATAAAATATAATATATTATATATTATAAAATATAATATA TTATATATTATAAAATATAATATATTTTATAATATATAATATATTATATT TTATATTATATAAGATATTATATTTTATAATATATAATATATTATATTTT ATAATATATAATATATTATATTTTATAATATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATTTTATATATATTATAAAATATAATATATTATAT TTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	340	0.0029	821	c.17 others(840): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATATTATAATATATAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(814): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGGGGGGAGGAAAGGAAGGACGGAGGAAAGGAAGGAGGGAGGAAAGGA AGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	322	0.0031	821	c.597 others(838): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCGTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCT CCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCC TTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCC TCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(814): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGA AGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	322	0.0031	821	c.597 others(838): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCT CCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCC TTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCC TCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(814): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	322	0.0031	821	c.597 others(838): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCT CCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCC TTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCC TCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TMPRSS2_chr21_41459305_41513158	41474830	A A	AGTAAGGA others(814): Show AGTAAGGAGGTGAGGGGGTGAGTGAGGGGGTGGGTGAGGGGGTGGGTGAG GGGATGAGGGGAGTGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGAAG GCATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTGAA GGGGGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGGGT GAATGGGTGAGAGACGGGGTGAGTGAGGGGGTGAAGGGATGAATGAGGGG GGTAAGTAAGGGGTTGAGGGGGTGAGGGGGGTGAGTGAGGAGGTGAAGGG TGAGTGAGGGCGTGAGGGGGGTGAGGGAGTGAGGGGATTAGTGAGGGGGT GAGGGGTTGAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGA GTGAGGGGGTGAGGGGTGAATGAGGGGTTGAGTAGGGGGGTGAGTGAGGA GGTGAGGTGGTGAGTGAGGGGGGTGAAGGGTGAGTGAGGGGGTGAGGAGG TGAGTGAGGGGGTGACGGGGTGGGGGTGAGGGAGGGATGAGGGGGAGAGT GAGGAGGTGAGGAGGTGAGTGAGGGTTGAGGGAGGTGAGGGGGTGAGTGA GGGGGCGAAGGGGGTGAGTGAGGGGGTGAGGGGGTGAAGGCGTGAGTGAG GGGGTAAGGGGATGAGTGAGGGGGTGAGGGGGGTGAGGGGTGAGTGAGGG GGCGAGGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGAGGTGAGGGGG GTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGG AGGTGAGGGGGGTGATGAGGAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0372 a0001c0002t0001g0372	1	382	0.0026	821	c.728 others(838): Show c.728-1335_728-1334insCTCCTCATCACCCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCCT CACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCCCCTCGCCCCCTCA CTCACCCCTCACCCCCCTCACCCCCTCACTCATCCCCTTACCCCCTCACT CACGCCTTCACCCCCTCACCCCCTCACTCACCCCCTTCGCCCCCTCACTC ACCCCCTCACCTCCCTCAACCCTCACTCACCTCCTCACCTCCTCACTCTC CCCCTCATCCCTCCCTCACCCCCACCCCGTCACCCCCTCACTCACCTCCT CACCCCCTCACTCACCCTTCACCCCCCTCACTCACCACCTCACCTCCTCA CTCACCCCCCTACTCAACCCCTCATTCACCCCTCACCCCCTCACTCACCC CTTCATCCACTCACCCACCTGCTCACCTCCTCACTCAACCCCTCACCCCC TCACTAATCCCCTCACTCCCTCACCCCCCTCACGCCCTCACTCACCCTTC ACCTCCTCACTCACCCCCCTCACCCCCTCAACCCCTTACTTACCCCCCTC ATTCATCCCTTCACCCCCTCACTCACCCCGTCTCTCACCCATTCACCCCC TCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACTCCCCCCCTTCACC CCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAATCATGCCTTCAC TCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCCTCATCCCCTCACC CACCCCCTCACCCACCCCCTCACTCACCCCCTCACCTCCTTAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TPPP_chr5_654862_698352	689512	G G	GACACAGA others(814): Show GACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGCC GCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAGA AAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGTC AGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGGG GAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTATG ATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTTT CATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAAA TTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGGA ACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAGC TGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGCA GGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGAA CCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTCA AGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTGA GCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATGC CCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTGG GGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCGG GGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	409	0.0024	821	c.-5+ others(836): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATATGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGT	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(814): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCGG GGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0178 a0001c0001t0005g0178	1	409	0.0024	821	c.-5+ others(836): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCTCCCCAGGGCAA TCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCAC TCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGCA CCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGGA ATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGGT CTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAAA GTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCCT AAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTTT CTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGTC TAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATATGAAAAATCTT TCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAAC TGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGTC GTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGTCATT TAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAGC CCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGGG AAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(814): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATAACATGATGATATGATACTATATC ATCATATAACATGATGATATGATACTATATCATCATATAACATGATGATA TGATACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	174	0.0058	821	c.41- others(838): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATAACATGATGATATGATACTATATCATCATAT AACATGATGATATGATACTATATCATCATATAACATGATGATATGATACT ATATCATCATATAACATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL8_chr22_50013575_50063298	50029009	A A	ATCCTGAA others(814): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCC CACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACA CACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCC TAAAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACA CACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTC GTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGA CCCCATCACACCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAA GACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCC TCGTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	224	0.0045	821	c.225 others(840): Show c.2251+1420_2251+1421insCGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCA GGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGT GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTT CAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGAC GGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGA TGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTG TGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGT CTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAG GACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(814): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATTATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATATATTA TATTATTATATATAATAATATATAATAATATAATATAATATATATTATTA TATATAATTATATATAATAATATAATATATATTATTATATATAATTATAT ATAATAATATAATATATATTATTATATATAATTATATATAATAATATAAT ATATATTATTATATATAATAATAATATATATATATTATTATATATAATTA TATATAATAATATAATATATATTATTATATATAATTATATATAATAATAT AAATATATTATTATATATTATTATATATAATAATATAATATATATTATAT ATTATTATATATAATAATATAATATATATTATATATTATTATATATAATA ATATAATATATATTATTATATATTATTATATATAATAATATAATATATAT TATTATATATAATAATATAATATATATTATTATATATTATTATATATAAT AATATAATATATATTATTATATATAATAATATAATATATATTATTATATA TTATTATATATAATAATATAATATATATTATTATATATAATAATATAATA TATATTATTATATATTATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	238	0.0042	821	c.392 others(838): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATAATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATTTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATATATTATTATTATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATAATATATATTATATTATTATATATAATTATATATAATAA TATATATTATATTATATTATTATATATTATTATATATAATAATATAATAT ATATTATTATATATAATTATATATAATAATATAATATATATTATTATATA TAATAATATATAATAATATATATTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATTATATATAATAATATATATTAT ATTATTATATATAATAATATATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(814): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCCTCTCT CTCCTCCTCCCTCCCTCCCCTCCTCCTCCCCTCCCCTCTCCCTCTCCTCC TCTCCTCCCCTCTCCTCCCTCTCTCCCCTCCCTCTCCCCTCTCCTCCCTC TCCTCTTTCCTCTTCCCCTCCTTCCTCCCCTCCCTCTCCCCTCCCTTCCC CTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTC TCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTC TCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTC CCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTC TCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTC CCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTC CTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTC CTCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTC CTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCAC CCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTC CTTTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	202	0.0050	821	c.53 others(832): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGG GAGAGGGAGGGGAGGAAGGAGGGGAAGAGGAAAGAGGAGAGGGAGGAGAG GGGAGAGGGAGGGGAGAGAGGGAGGAGAGGGGAGGAGAGGAGGAGAGGGA GAGGGGAGGGGAGGAGGAGGGGAGGGAGGGAGGAGGAGAGAGAGGGAGGA GGAGGGGAGGAGGAGGAGGAGGGGAGGGGGAGGGGAGGGGAGGAGAGAGG AGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGG AGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
ZDHHC11B_chr5_705355_789729	781571	G G	GGACACAG others(814): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCATGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAAA TTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGGA ACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAGC TGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGCA GGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGAA CCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTCA AGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTGA GCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATGC CCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTGG GGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCGG GGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0014 a0007c0019t0014	a0007c0019t0014g0174 a0007c0019t0014g0174	1	271	0.0037	821	c.-23 others(840): Show c.-230+3096_-230+3097insTCCACCCAGGGCATCCTCTTCCCCGG GGAATCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAG GGCAATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCAT TTCACTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAG CAGCACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGAC TGGGAATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCT GTGGTCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCA GGAAAGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTG TCCCTAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCA TGTTTCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTA ATGTCTAAATGTCCAAATGCATGACTTCTTTTGGGAAGAAATATGAAAAA TCTTTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATAC CAACTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTC CGTCGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCATGCTGACGT CATTTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTT AAGCCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTC AGGGAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	1/13			chr5	TogoVar
ZDHHC11B_chr5_705355_789729	781571	G G	GGACACAG others(814): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAAA TTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGGA ACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAGC TGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGCA GGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGAA CCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTCA AGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTGA GCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATGC CCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTGG GGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCGG GGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0031 a0005c0018t0031	a0005c0018t0031g0010 a0005c0018t0031g0010	1	271	0.0037	821	c.-23 others(840): Show c.-230+3096_-230+3097insTCCACCCAGGGCATCCTCTTCCCCGG GGAATCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAG GGCAATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCAT TTCACTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAG CAGCACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGAC TGGGAATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCT GTGGTCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCA GGAAAGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTG TCCCTAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCA TGTTTCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTA ATGTCTAAATGTCCAAATGCATGACTTCTTTTGGGAAGAAATATGAAAAA TCTTTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATAC CAACTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTC CGTCGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGT CATTTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTT AAGCCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTC AGGGAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	1/13			chr5	TogoVar
ZNF365_chr10_62369369_62407450	62370953	G G	GTGATATA others(814): Show GTGATATATATCATATGTGATATATATCATATATATCACATATGTGATAT ATATCATATGTGATATATATCATATATATCACATATGTGATATATATCAT ATGTGATATATATCATATATATCACATATGTGATATATATCATATGTGAT ATATATCATATATATCACATATGTGATATATATCATATATATCACATATG TGATATATATCATATGTGATATATATCATATATATCACATATGTGATATA TATCATATGTGATATATATCATATATATATCACATATGATATATATCATA TGTGATATATATCATATATATATCACATATGATATATATCATATGTGATA TATATCATATATATCACATATGATATATATCATATGTGATCATATGTGAT ATATATCATATATATCACATAGGATATATATCATATGTGATATATATCAT ATATATCACATATGATATATATCATATGTGATATATATATCATATATATC ACATATGATATATATCATATGTGATATATATATAGCATATATATCATATG TGATATATATCATATATCACATATGATATATATCATATATATCATATGTG ATATATAGCATATATATCATATGTGATATATAGCATATATATCATATGTG ATATATAGCATATATATCATATATCATATATATCATATATATCATATATC ATATATATCATATATATCATATATCATATATCATATATATCATATATATC ATATATGTCATATGTGATATATATGATATATATGATATATATGATATATA TCATATATATGTGATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0118 a0001c0001t0029g0118	1	350	0.0029	821	c.-35 others(832): Show c.-3519_-3518insTGATATATATCATATGTGATATATATCATATATA TCACATATGTGATATATATCATATGTGATATATATCATATATATCACATA TGTGATATATATCATATGTGATATATATCATATATATCACATATGTGATA TATATCATATGTGATATATATCATATATATCACATATGTGATATATATCA TATATATCACATATGTGATATATATCATATGTGATATATATCATATATAT CACATATGTGATATATATCATATGTGATATATATCATATATATATCACAT ATGATATATATCATATGTGATATATATCATATATATATCACATATGATAT ATATCATATGTGATATATATCATATATATCACATATGATATATATCATAT GTGATCATATGTGATATATATCATATATATCACATAGGATATATATCATA TGTGATATATATCATATATATCACATATGATATATATCATATGTGATATA TATATCATATATATCACATATGATATATATCATATGTGATATATATATAG CATATATATCATATGTGATATATATCATATATCACATATGATATATATCA TATATATCATATGTGATATATAGCATATATATCATATGTGATATATAGCA TATATATCATATGTGATATATAGCATATATATCATATATCATATATATCA TATATATCATATATCATATATATCATATATATCATATATCATATATCATA TATATCATATATATCATATATGTCATATGTGATATATATGATATATATGA TATATATGATATATATCATATATATGTGATATATATC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3415		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370953	G G	GTGATATA others(814): Show GTGATATATCATATGTGATATATATCATATATATCACATATGTGATATAT ATCATATGTGATATATATCATATATATCACATATGTGATATATATCATAT GTGATATATATCATATATATATCACATATGTGATATATCATATGTGATGT ATATCATATATATATCACATATGATATATATCATATGTGATATATATCAT ATATATCACATATGATATATATCATATGTGATATATATCATATATATCAC ATATGATATATATCATATGTGATATATATCACATATGATCACATATGATA TATATCATATGTGATATATATGATATATATCACATATGATATATATCATA TGTGATATATATCATATATATCACATATGATATATATCATATGTGATCAT ATGTGATATATATCATATATATCACATATGATATATATCATATGTGATAT ATATCATATATATCACATATGATATATATCATATGTGATATATATATCAT ATATATCACATATGATATATATCATATGTGATATATATAGCATATATATC ACATATGATATATATCATATATATCATATGTGATATATAGCATATATATC ATATGTGATATATAGCATATATATCATATGTGATATATAGCATATATATC ATATATCATATATATCATATATATCATATATCATATATATCATATATATC ATATATCATATATCATATATATCATATATATCATATATGTCATATGTGAT ATATATGATATATATGATATATATGATATATATGATATATATGATATATA TCATATATATGTGATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	350	0.0029	821	c.-35 others(832): Show c.-3519_-3518insTGATATATCATATGTGATATATATCATATATATC ACATATGTGATATATATCATATGTGATATATATCATATATATCACATATG TGATATATATCATATGTGATATATATCATATATATATCACATATGTGATA TATCATATGTGATGTATATCATATATATATCACATATGATATATATCATA TGTGATATATATCATATATATCACATATGATATATATCATATGTGATATA TATCATATATATCACATATGATATATATCATATGTGATATATATCACATA TGATCACATATGATATATATCATATGTGATATATATGATATATATCACAT ATGATATATATCATATGTGATATATATCATATATATCACATATGATATAT ATCATATGTGATCATATGTGATATATATCATATATATCACATATGATATA TATCATATGTGATATATATCATATATATCACATATGATATATATCATATG TGATATATATATCATATATATCACATATGATATATATCATATGTGATATA TATAGCATATATATCACATATGATATATATCATATATATCATATGTGATA TATAGCATATATATCATATGTGATATATAGCATATATATCATATGTGATA TATAGCATATATATCATATATCATATATATCATATATATCATATATCATA TATATCATATATATCATATATCATATATCATATATATCATATATATCATA TATGTCATATGTGATATATATGATATATATGATATATATGATATATATGA TATATATGATATATATCATATATATGTGATATATATC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3415		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(815): Show TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATATATAAATATAAATATTTATA TATTTATAGATAAATATATATATATAAATATTTATATATTTATAGATAAA TATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATA TAAATATTTATAGATAAATATATAAATATATAAATATTTATATATTTATA GATAAATATATAAATATTTATATATTTATCTATAAATATATAAATATTTA TATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	306	0.0033	822	c.130 others(841): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATATAT AAATATTTATATTTATATATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(815): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCAC CTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCT CAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCA GCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCAC CCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCA ACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACAT CACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTC AGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCA CCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAAC ACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp2 HG02976.hp1 others(8): Show HG02622.hp2 HG02818.hp2 HG02976.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0021 a0001c0001t0035 a0001c0001t0041 a0001c0002t0038 a0001c0002t0042 a0001c0009t0018	a0001c0001t0001g0133 a0001c0001t0005g0282 a0001c0001t0005g0283 others(8): Show a0001c0001t0001g0133 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0007g0280 a0001c0001t0007g0281 a0001c0001t0021g0284 a0001c0001t0035g0014 a0001c0001t0041g0015 a0001c0002t0038g0013 a0001c0002t0042g0016 a0001c0009t0018g0102	11	337	0.0326	822	c.61+ others(837): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGA TGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGG GCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACT GAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGAT GTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGT GTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGAC TGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGT GATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGA TGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATG TGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS3_chr4_72275969_72574221	72456223	A A	AGTATGTA others(815): Show AGTATGTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTAT ATATAGTATGTACTATATATTTTATATATAGTATGTACTATATATTTTAT ATATAGTATGTACTATATATTTTATATATAGTATGTACTATATATATTTT ATATATAGTATGTACTATATATATTTTATATATAGTATGTACATTGTATA TACTATATATATATTTTATGTATAGTATGTACTATATATATTTTATGTAT AGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TATACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATAT ATTTTATGTATAGTATATATACT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0057 a0002c0002t0002g0057	1	182	0.0055	822	c.505 others(841): Show c.505-41253_505-41252insAGTATATATACTATACATAAAATATA TATAGTACATACAGTATATATACTATACATAAAATATATATAGTATATAC AGTATATATACTATACATAAAATATATATAGTACATACAGTATATATACT ATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAATA TATATAGTACATACAGTATATATACTATACATAAAATATATATAGTACAT ACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATATA CTATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAA TATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTAC ATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATA TACTATACATAAAATATATATAGTACATACAGTATATATACTATACATAA AATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGT ACATACTATACATAAAATATATATATAGTATATACAATGTACATACTATA CATAAAATATATATAGTACATACTATACATAAAATATATATATAGTATAT ACAATGTACATACTATATATAAAATATATATAGTACATACTATATATAAA ATATATATAGTACATACTATATATAAAATATATAGTACATACTATATATA AAATATATAGTACATACTATATATAAAATATATAGTACATACTATATATA AAATATATAGAGTACATACTATATATAAAATATATAGAGTACATAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(815): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCATGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACACTGTCTCAAA AAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTGGCTGGTG CCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCTATAAAAT AACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAATGATTGGT TTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTCACACCTG TAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTGAGCTCAA GAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACTAAAA TACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAGTCCCAC CTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCAGGAGGC GGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGTAACA GAGTGAGACTCCGTTTAAAAAAAAAGAATATATATAAAAATACATATATA TATATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGCTCACAC CTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACTTGAGGTC AGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp2 others(3): Show HG00733.hp1 HG01069.hp1 HG01071.hp2 HG02622.hp1 HG02970.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0009 a0001c0001t0002g0073 a0001c0002t0002g0020 a0001c0001t0002g0009 a0001c0001t0002g0073 a0001c0002t0002g0020	6	336	0.0179	822	c.94+ others(837): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT GTATTTTTATATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACC AGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCT GGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGAC TACAGGCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGT AGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCT CAGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGT GAGCCACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATC ATTATGGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTAT AGCTAAGTATTGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGC CACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTGAGA CAGTGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCATGATCTCGGT TCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(815): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTG AGAAGGCTCAGGCATTGATCAGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	214	0.0047	822	c.565 others(839): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar

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Search Results (Total: 7053 hits)