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 (≤).

Sort By

Select column to sort.

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Ascending or descending.

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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
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(799): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGTATATGCATATGTGTATATATGCATATATGCATATGCAT ATGTGTATATATGCATATATGCATATGCATATGTGTGTATATATACATAT ATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATAT GTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACAT ATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCAT ATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATAC ATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATACATGTATAT GCATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATAT ACATATACATGTATATGCATATGTGTGTATATATACATATACATGTATAT GCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTAT ATATACACATATACATGTATATGCATATGTGTGTATACATATACATATAT ATGCATATATGTGTATACATATACATATATATGCATATATGTGTATATAT ACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATAT ATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	456	0.0022	806	c.31 others(817): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGTATATGCATATGTGTATATATGCA TATATGCATATGCATATGTGTATATATGCATATATGCATATGCATATGTG TGTATATATACATATATATGCATATGCATATGTGTGTATATATACATATA TATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATATG TGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACATA TATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATA TGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACA TATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATACATGTATATGCATGTGTGTATATATACATATACATGTATATGCA TATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATATA CATATACATGTATATGCATATGTGTGTATATATACACATATACATGTATA TGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTA TACATATACATATATATGCATATATGTGTATACATATACATATATATGCA TATATGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGTG TATATATACACATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(799): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGTATATGCATATGTGTATATATGCATATATGCATATGCAT ATGTGTATATATGCATATATGCATATGCATATGTGTGTATATATGCATAT ATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATAT GTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACAT ATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCAT ATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATAC ATATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGC ATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATAT ACATATATATGCATATGCATATGTGTGTATATATACATATACATGTATAT GCATATGTGTGTATATATACATATACATGTATATGCATGTGTGTATATAT ACATATACATGTATATGCATATGTGTGTATATATACATATACATGTATAT GCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTAT ATATACACATATACATGTATATGCATATGTGTGTATACATATACATGTAT ATGCATATGTGTGTATACATATACATATATATGCATATATGTGTATATAT ACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATAT ATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02165.hp2 NA18992.hp2 others(1): Show HG00544.hp2 HG02165.hp2 NA18992.hp2 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	4	456	0.0088	806	c.31 others(817): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGTATATGCATATGTGTATATATGCA TATATGCATATGCATATGTGTATATATGCATATATGCATATGCATATGTG TGTATATATGCATATATATGCATATGCATATGTGTGTATATATACATATA TATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATATG TGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACATA TATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATA TGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACA TATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCA TATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATA CATATACATGTATATGCATATGTGTGTATATATACATATACATGTATATG CATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATATA CATATACATGTATATGCATATGTGTGTATATATACACATATACATGTATA TGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTA TACATATACATGTATATGCATATGTGTGTATACATATACATATATATGCA TATATGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGTG TATATATACACATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PAK2_chr3_196734857_196837647	196811232	T T	TCCCTCCC others(799): Show TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCTTTC CTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCC CTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCTT CCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCCTCC CTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTCCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCC CTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCT CCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTC CTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0063 a0001c0003t0008g0063	1	178	0.0056	806	c.773 others(821): Show c.773+583_773+584insCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT CCCTTCCCTCCTTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTA CCCTCCCTTCCCTCCCTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCCTCCCTTCCCTCCCTCCCTT CCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCC TCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCC CTCCCCTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCC TCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCT CCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTCCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(799): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATATG TAATACACAATATATTATATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTA TACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAG TATATGTAATATATATTATACATTATTATATAAGCATATAATATATAATA CATAATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02148.hp2 HG02735.hp2 others(2): Show HG02074.hp2 HG02148.hp2 HG02735.hp2 NA18950.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0037 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0037 a0001c0001t0073 a0001c0001t0074	a0001c0001t0001g0017 a0001c0001t0004g0024 a0001c0001t0037g0159 others(2): Show a0001c0001t0001g0017 a0001c0001t0004g0024 a0001c0001t0037g0159 a0001c0001t0073g0055 a0001c0001t0074g0054	5	220	0.0227	806	c.24+ others(823): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATATGTAATACACAATATATTATATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACATTATACATTATTAT ATAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATA TATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTAT ATAAGCATATAATATATAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RIMBP2_chr12_130391133_130721299	130483273	G G	GGGGGCAG others(799): Show GGGGGCAGACCTCATCCCAATACACCCATTGTGTGTGTACATGTGTCAGA TTCTGCAGGGGAGGGGGCAGACCTCATCCCAATACACCCATTGTGTGTGT ACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCAAATACACC CACTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCA TCCAAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGG GGGCAGACCTCATCCAAATACACCCATTGTGTGTGTACATGTGTCAGATT CTGCAGGGGAGGGGGCAGACCTCATCCAAATACACCCACTGTGTGTGTAC ATGTGTCAGATTCTGCAGGGGAGGGGGCACACCTCATCCAAATACACCCA TTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATC CCAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGG GCAGACCTCATCCCAATACACCCATTGTGTGTGTACATGTGTCAGATTCT GCAGGGGAGGGGGCAGACCTCATCCCAATACACCCATTGTGTGTGTACAT GTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCAAATACACCCACT GTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCA AATACACCCACTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGC AGACCTCATCCAGATATACCGATTGTGTGTGTACATGTGTCACATTCTGC AGGGGAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0003 a0002c0034t0003	a0002c0034t0003g0139 a0002c0034t0003g0139	1	180	0.0056	806	c.-3- others(821): Show c.-3-4258_-3-4257insATCCCCTGCAGAATGTGACACATGTACACA CACAATCGGTATATCTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGA CACATGTACACACACAGTGGGTGTATTTGGATGAGGTCTGCCCCCTCCCC TGCAGAATCTGACACATGTACACACACAGTGGGTGTATTTGGATGAGGTC TGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTAT TGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACA CAATGGGTGTATTGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACA CATGTACACACACAATGGGTGTATTGGGATGAGGTCTGCCCCCTCCCCTG CAGAATCTGACACATGTACACACACAATGGGTGTATTTGGATGAGGTGTG CCCCCTCCCCTGCAGAATCTGACACATGTACACACACAGTGGGTGTATTT GGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACA ATGGGTGTATTTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACA TGTACACACACAATGGGTGTATTTGGATGAGGTCTGCCCCCTCCCCTGCA GAATCTGACACATGTACACACACAGTGGGTGTATTTGGATGAGGTCTGCC CCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTATTGGG ATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAAT GGGTGTATTGGGATGAGGTCTGCCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
ROBO2_chr3_77035099_77654964	77322918	A A	ATATATTA others(799): Show ATATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATGGATAATCT AATATATTATATTATATTATGGATAATCTAATATATTATATTATATTATG GATAATCTAATATATTATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTAT ATTATGGATAATATATTATATTATGGATAATATATTATATTATGGATAAT ATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAGTATATTATGGATAATATAATATATTATGGATAATAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATAATATATTATATAATATATTATATTATG GATAATATAATATATTATATAATATATTATATTATGGATAATATAATATA TTATATAATATATTATATTATGGATAATATAATATATTATATAATATATT ATATTATGGATAATATAATATATTATATTATATTATGGATAATATAATAT ATTATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0117 a0001c0003t0007g0117	1	160	0.0063	806	c.389 others(827): Show c.389-154406_389-154405insGGATAATCTAATATATTATATTAT ATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATAT TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA TTATATTATGGATAATATATTATATTATGGATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAGT ATATTATGGATAATATAATATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATAATATATTATATAATATATTATATTATGGATAATATAATATAT TATATAATATATTATATTATGGATAATATAATATATTATATAATATATTA TATTATGGATAATATAATATATTATATAATATATTATATTATGGATAATA TAATATATTATATTATATTATGGATAATATAATATATTATATTATATTAT GGATAATATAATATATTATATTATATTATGGATAATATAATATATTATAT TATATTATGGATAATATAATATATTATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTATATTA others(799): Show TTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAAT ATAATATATTATATTATATTATGGATAATATAATATATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATCTAATATATTATATTATA TTATGGATAATCTAATATATTATATTATATTATGGATAATATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATATTATATTATGGATAATATATTATAT TATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATAGTATATTATGGATAATATAATATA TTATGGATAATATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATAAT ATATTATATTATGGATAATATAATATATTATATAATATATTATATTATGG ATAATATAATATATTATATAATATATTATATTATGGATAATATAATATAT TATATAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0002 a0009c0007t0002	a0009c0007t0002g0088 a0009c0007t0002g0088	1	160	0.0063	806	c.389 others(827): Show c.389-154377_389-154376insGGATAATATAATATATTATATTAT ATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATAT TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATATTATATTATGGATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATAGTATATTATGGATAATATAATATATTATGGATAATATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATAATATATTATATAATATATTATATTATGGATAATA TAATATATTATATAATATATTATATTATGGATAATATAATATATTATATA ATATATTATATTATGGATAATATAATATATTATATAATATATTATATTAT GGATAATATAATATATTATATTATATTATGGATAATATAATATATTATAT TATATTATGGATAATATAATATATTATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(799): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGACAGGAGGAGAGGAGGAACAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGTGCTAGG ACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGA GGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAGGAACAG GTGCTAAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAG CAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGA GGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAG GAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGA GGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCAC AGGAGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0194 a0001c0004t0011g0194	1	203	0.0049	806	c.-12 others(825): Show c.-127+9348_-127+9349insTCCTCCTGTGCCTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTC CTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTTCTCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGG CATCTGGGACGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACT GCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCTCCTCC TGTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTC TCCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTT CTCCTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SPOCK3_chr4_166728384_167239494	167108995	T T	TATAAAAA others(799): Show TATAAAAATATATATAAATATATATTTATATAAATATATATAAATATATA TTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAA TATATATTTATATAAAAATATATATAAATATATATTTATATATAAATATA TATAAATATATATTTATATATAAATATATATAAATATATATTTATATATA AATATATATAAATATATATTTATATATAAATATATATAAATATATATTTA TATATAAATATATATAAATATATATTTATATATAAATATATATAAATATA TATTTATATATAAATATATATAAATATATATTTATATATAAATATATATA AATATATATTTATATATAAATATATATAAATATATATTTATATATAAATA TATATAAATATATATTTATATATAAATATATATAAATATATATAAATATA TATTTATATAAAAATATATAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATA TAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATA TTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAA TATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATA TATAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAA AATATATATAAATATATATTTATATAAAAATATATATAAATATATATTTA TATAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	144	0.0069	806	c.190 others(825): Show c.190-46459_190-46458insTTTTATATAAATATATATTTATATAT ATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATTT ATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATAT ATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTATATAAATATATATTTATATATATTTTTATATAAATATATATTTATAT ATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATAT TTATATATATTTATATATTTTTATATAAATATATATTTATATATATTTAT ATATATTTATATATAAATATATATTTATATATATTTATATATAAATATAT ATTTATATATATTTATATATAAATATATATTTATATATATTTATATATAA ATATATATTTATATATATTTATATATAAATATATATTTATATATATTTAT ATATAAATATATATTTATATATATTTATATATAAATATATATTTATATAT ATTTATATATAAATATATATTTATATATATTTATATATAAATATATATTT ATATATATTTATATATAAATATATATTTATATATATTTATATATAAATAT ATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT ATATAAATATATATTTATATATATTTTTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
STAM_chr10_17639151_17721824	17670782	T T	TAAGAAAT others(799): Show TAAGAAATGCCTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCC TTGGGAATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCCCTGA AACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGA TGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTGGTTAAGAGTCAT CACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGAGGAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAGATCCCCCTCT GTGAGAAACACCCAAGAATTATCAATAAAAAAAAAATAAAAAAAAATAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0385 a0001c0001t0030g0385	1	426	0.0024	806	c.125 others(825): Show c.125+10245_125+10246insCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGC TCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGG CGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTG TAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAA AATTCCTCTGCCTTGGGAATCCTGTTGATCTGTGACCTTACCCCCAACCC TGTGCTCCCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAG GGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTG GTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACA CTGAGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTT CACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCC AGATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAAAAATA AAAAAAAATAAAAAAAAAAAAGAAATGCCT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
STAM_chr10_17639151_17721824	17670782	T T	TAAGAAAT others(799): Show TAAGAAATGCCTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCTGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCC TTGGGAATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCCCTGA AACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGA TGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCAT CACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGAGGAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAGATCCCCCTCT GTGAGAAACACCCAAGAATTATCAATAAAAAAAAAATAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG01167.hp2 others(4): Show HG00280.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01934.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0044 others(4): Show a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0052	7	426	0.0164	806	c.125 others(825): Show c.125+10245_125+10246insCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCTGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGC TCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGG CGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTG TAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAA AATTCCTCTGCCTTGGGAATCCTGTTGATCTGTGACCTTACCCCCAACCC TGTGCTCCCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAG GGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTC GTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACA CTGAGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTT CACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCC AGATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAAAAATA AAAAAAAAAAAAAAAAAAAAAGAAATGCCT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
STAM_chr10_17639151_17721824	17670782	T T	TAAGAAAT others(799): Show TAAGAAATGCCTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCTGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCC TTGGGAATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCCCTGA AACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGA TGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCAT CACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGAGGAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAGATCCCCCTCT GTGAGAAACACCCAAGAATTATCAATAAAAAAAAAATAAAAAAAATAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01257.hp1 HG01258.hp2 HG00639.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	3	426	0.0070	806	c.125 others(825): Show c.125+10245_125+10246insCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCTGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGC TCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGG CGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTG TAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAA AATTCCTCTGCCTTGGGAATCCTGTTGATCTGTGACCTTACCCCCAACCC TGTGCTCCCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAG GGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTC GTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACA CTGAGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTT CACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCC AGATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAAAAATA AAAAAAATAAAAAAAAAAAAAGAAATGCCT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
STAM_chr10_17639151_17721824	17670782	T T	TAAGAAAT others(799): Show TAAGAAATGCCTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCTGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCC TTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCCCTGAA ACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGAT GTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATC ACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGAGGAAGGCCG CAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCT GCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAGATCCCCCTCTG TGAGAAACACCCAAGAATTATCAATAAAAAAAAAATAAAAAAAAAATAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0379 a0001c0001t0029g0379	1	426	0.0024	806	c.125 others(825): Show c.125+10245_125+10246insCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCTGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGC TCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGG CGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTG TAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAA AATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCT GTGCTCCCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGG GCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCG TTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACAC TGAGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTC ACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCA GATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAAAAATAA AAAAAAAATAAAAAAAAAAAAGAAATGCCT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(799): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGG AGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGG GGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGG AGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGG AGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAG GGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG AGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAA GGAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGG AGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAG GGGGGGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	322	0.0031	806	c.597 others(823): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTC CCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCCTCCCTCCTTTCCTCCCTCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCT TCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCC CTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(799): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCC CTCCTCTCCTCCTCCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTT CCTCCTCTCCCCTCCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCT CCACTTCTCTCCCTCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCC CTCCTCCTCCTCTTCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCC TTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCC TCCCCTTCCTCCTCCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTC CTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCC TCTCCCTCCTCCTCCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCC CTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTTCCTCCTCCTCCT CCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTCTCCTCCTCCCCTTCCTCC TCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTTTCTCC TCCTCCCCTCCTCTCCTCCTCCTCCTCCCCTCTCCTCCTCCTCCCCTCCT CTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCT CTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTC CTCCCTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	384	0.0026	806	c.424 others(823): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTTTTCCTCTTCC TCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCTGCTCCTCCTCTTCCTCC TCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCCTCCTCCCCTTCTCTTCT TCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCTCCTCTCCCTCCTCCTCC CCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCTCCTGCTCTTCCTCCTCT CCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTC TTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTCTCTTTCTCCTCCTCCTC CCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCT CCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTCTCCTCCTCCCCTTCC TCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTTCC TCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTCTCCTCCTC CCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTT CTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCTCCCCTCTCCTCCTC CTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTCCTC CTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCT CTTCCTCCTCCTCCCTTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GTTAGGGA others(799): Show GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTG GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCA GGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGGTTAGGGAGACCAAGGGT CAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGG CCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0158 a0002c0002t0004g0158	1	466	0.0022	806	c.49 others(817): Show c.4905_*4906insACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCC CTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGC CTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTT CCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGTCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCC AGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCT AACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACC CCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCTAGGCCTCCCTAACCCCTGGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCCTGCA others(799): Show GCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAG CCCCTCCTCCCGCAATCCCACCCATGCAGCCTCCGCCCCTCCTCCCGCAA TCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGC CTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCC CGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCAT GCAGCCTCAGCCCCTCCTCCCACAATCCCAGCCATGCAGCCTCAGCCCCT CCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCA GCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCG CCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAA TCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCAGC CTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCC CGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCT GCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCACCCCT CCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGAAATCCCA GCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAG CCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACA ATCCCAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02647.hp1 others(2): Show HG01891.hp2 HG02559.hp2 HG02647.hp1 HG02818.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0015 a0001c0001t0042 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0042 a0001c0007t0008	a0001c0001t0001g0028 a0001c0001t0001g0213 a0001c0001t0015g0001 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0213 a0001c0001t0015g0001 a0001c0001t0042g0010 a0001c0007t0008g0313	5	358	0.0140	806	c.186 others(825): Show c.186+11679_186+11680insCTGCAGCCTCAGCCCCTCCTCCTGCA ATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCAG CCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCA TGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCACAATCCC AGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCA GCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCAGCCTCAGCCCC TCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCC AGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCA GCCCCTCCTCCCGAAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAG CCTCAGCCCCCTCCTCCCACAATCCCACCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TSHZ2_chr20_52967358_53500330	53204098	G G	GATATACT others(799): Show GATATACTATTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATATGATACTATATCATCATATGATGATATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATATGATACTATATCATCATATGATATGATACTA TATCATC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0061 a0004c0004t0061	a0004c0004t0061g0025 a0004c0004t0061g0025	1	174	0.0058	806	c.41- others(823): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATATGATACTATATCATCATATGAT GATATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATATGATACTATATCAT CATATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(799): Show CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC TCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCC CCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCC TCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCC TTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCT CTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCC CCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCC TTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCC CCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTC CCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCG TCCCCTCCTCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCC CCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC TCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCC CCTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCC CCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTC ACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTC CCCCTCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG00738.hp2 others(5): Show HG00323.hp1 HG00733.hp1 HG00738.hp2 HG01243.hp2 HG01361.hp1 HG01928.hp2 HG03239.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0003 a0001c0004t0003 a0001c0001t0002 a0001c0002t0003 a0001c0004t0003	a0001c0001t0002g0031 a0001c0001t0002g0057 a0001c0001t0002g0070 others(4): Show a0001c0001t0002g0031 a0001c0001t0002g0057 a0001c0001t0002g0070 a0001c0002t0003g0010 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0004t0003g0175	8	322	0.0248	806	c.4-1 others(819): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTC CCCTCCTTCCCCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCT TCTTCCTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCC TCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTC CCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCC CTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCT TCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCC CCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCC TTCCTCCCCTCCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCT CCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCTCCCCCTCCCCCTCCTC CCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCAT CCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCC CTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCT CTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCC CTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ASMTL_chrX_1398139_1457909	1432814	G G	GCGAGACT others(800): Show GCGAGACTCCGTCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGCGGCC GAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAAC ATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGT GGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCG CTTGAACCCGGGAGGTGCAGGTTGCAGTGAGCCGAGATCGCGCCCCTGCA TTCCAGCCTGGGCCACAGAGCGAGACTCCGTCTCTAAAAAAAACAAAAGA AACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTT CGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACA AAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAATCCCAGATACTTGGGA GGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCAGTGAG CCAAGATCGCACCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCAT CTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGAGGCCGAGGCGGATGGA TCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCC CGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCACCTG TCATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGG AGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGG CCACAGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0008 a0002c0009t0001g0008	1	185	0.0054	807	c.401 others(822): Show c.401-438_401-437insATCTGTGGCCCAGGCTGGAGTGCAGTGGTG CGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCCCGCCACCACGCCTG GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGG CTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCTCCCAA ACTGCTGTTTCTTTTGTTTTTTTTAGAGATGGAGTCTCGCTCTGTGGCCC AGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCC GGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCAAGTATCTGGGATTACAG GCACCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGG TTTCGCCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCC ATCCGCCTCGGCCGCCCAAACTGCTGTTTCTTTTGTTTTTTTTAGAGACG GAGTCTCGCTCTGTGGCCCAGGCTGGAATGCAGGGGCGCGATCTCGGCTC ACTGCAACCTGCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGATGACAGGTGCCCGCCACCACGCCTGGCTAATTTTTGT ATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAAC CCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGCTGTTTCT TTTGTTTTTTTTAGAGACGGAGTCTCG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432814	G G	GCGAGACT others(800): Show GCGAGACTCCGTCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGCGGCC GAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAAC ATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGT GGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCG CTTGAACCCGGGAGGTGCAGGTTGCAGTGAGCCGAGATCGCGCCCCTGCA TTCCAGCCTGGGCCACAGAGCGAGACTCCGTCTCTAAAAAAAACAAAAGA AACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTT CGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACA AAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGATACTTGGGA GGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCAGTGAG CCAACATCGCACCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCAT CTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGAGGCCGAGGCGGATGGA TCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCC CGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTG TAATCCCAGATACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGG AGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGG CCACAGAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0125 a0004c0010t0001g0125	1	185	0.0054	807	c.401 others(822): Show c.401-438_401-437insATCTGTGGCCCAGGCTGGAGTGCAGTGGTG CGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCT GCCTCAGCCTCCCGAGTATCTGGGATTACAGGCACCCGCCACCACGCCCG GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGG CTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCTCCCAA ACTGCTGTTTCTTTTGTTTTTTTTAGAGATGGAGTCTCGCTCTGTGGCCC AGGCTGGAGTGCAGTGGTGCGATGTTGGCTCACTGCAACCTCCGCCTCCC GGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCAAGTATCTGGGATTACAG GCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGG TTTCGCCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCC ATCCGCCTCGGCCGCCCAAACTGCTGTTTCTTTTGTTTTTTTTAGAGACG GAGTCTCGCTCTGTGGCCCAGGCTGGAATGCAGGGGCGCGATCTCGGCTC ACTGCAACCTGCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGATGACAGGTGCCCGCCACCACGCCTGGCTAATTTTTGT ATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAAC CCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGCTGTTTCT TTTGTTTTTTTTAGAGACGGAGTCTCG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432824	G G	GTCTCTAA others(800): Show GTCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATG GATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGAAAC CCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCACC TGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCA GGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTG GGCCACAGATCGAGACTCCGTCTCTAAAAAAAACAAAAGAAACAGCAGTT TGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGC CTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC AGGCGTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATCGCTTGAACCCGGGAGGTGCAGGTTGCAGTGAGCCGAGATCGC GCCCCTGCATTCCAGCCTGGGCCACAGAGCGAGACTCCATCTCTAAAAAA AACAAAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGG CCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGA TACTTGGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGT TGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCCACAGAGCG AGACTCCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0000 a0000	a0000c0043 a0000c0043	a0000c0043t0001 a0000c0043t0001	a0000c0043t0001g0069 a0000c0043t0001g0069	1	185	0.0054	807	c.401 others(822): Show c.401-448_401-447insTGGAGTCTCGCTCTGTGGCCCAGGCTGGAG TGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAG CGATTCTCCTGCCTCAGCCTCCCAAGTATCTGGGATTACAGGCACCCGCC ACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCAT GTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTC GGCCGCCCAAACTGCTGTTTCTTTTGTTTTTTTTAGAGATGGAGTCTCGC TCTGTGGCCCAGGCTGGAATGCAGGGGCGCGATCTCGGCTCACTGCAACC TGCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGATGACAGGTGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCT CTGGTGATCCATCCGCCTCGGCCGCCCAAACTGCTGTTTCTTTTGTTTTT TTTAGAGACGGAGTCTCGATCTGTGGCCCAGGCTGGAGTGCAGTGGTGCG ATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCCCGCCACCACGCCTGGC TAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCT GGTCTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAAC TGCTGTTTCTTTTGTTTTTTTTAGAGA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432824	G G	GTCTCTAA others(800): Show GTCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATG GATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGAAAC CCGGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCACC TGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCA GGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTG GGCCACAGATCGAGACTCCGTCTCTAAAAAAAACAAAAGAAACAGCAGTT TGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGC CTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC AGGCGTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATCGCTTGAACCCGGGAGGTGCAGGTTGCAGTGAGCCGAGATCGC GCCCCTGCATTCCAGCCTGGGCCACAGATCGAGACTCCATCTCTAAAAAA AACAAAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGG CCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGA TACTTGGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGT TGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCCACAGAGCG AGACTCCA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0147 a0013c0036t0001g0147	1	185	0.0054	807	c.401 others(822): Show c.401-448_401-447insTGGAGTCTCGCTCTGTGGCCCAGGCTGGAG TGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAG CGATTCTCCTGCCTCAGCCTCCCAAGTATCTGGGATTACAGGCACCCGCC ACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCAT GTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTC GGCCGCCCAAACTGCTGTTTCTTTTGTTTTTTTTAGAGATGGAGTCTCGA TCTGTGGCCCAGGCTGGAATGCAGGGGCGCGATCTCGGCTCACTGCAACC TGCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGATGACAGGTGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCT CTGGTGATCCATCCGCCTCGGCCGCCCAAACTGCTGTTTCTTTTGTTTTT TTTAGAGACGGAGTCTCGATCTGTGGCCCAGGCTGGAGTGCAGTGGTGCG ATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCCCGCCACCACGCCTGGC TAATTTTTGTATTTTTAGTAGAGACCGGGTTTCGCCATGTTGGCCAGGCT GGTCTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAAC TGCTGTTTCTTTTGTTTTTTTTAGAGA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432859	C C	CGGCCGAG others(800): Show CGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGG CCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGC ATGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCA CTGCACTCCAGCCTGGGCCACAGATCGAGACTCCGTCTCTAAAAAAAACA AAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAG GGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGATACT TGGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCA GTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCCACAGAGCGAGAC TCCGTCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGCGGCCGAGGCGG ATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGA AACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGT GCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTCAAC CCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGC CTGGGCCACAGAGCGAGACTCCATCTCTAAAAAAAACAAAAGAAACAGCA GTTTGGGA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0110 a0003c0002t0001g0110	1	185	0.0054	807	c.401 others(822): Show c.401-483_401-482insTCCCAAACTGCTGTTTCTTTTGTTTTTTTT AGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATC TTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTC AGCCTCCCAAGTATCTGGGATTACAGGCACCCGCCACCACGCCCGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGACGGAGTCTCGCTCTGTGGCCCAGGCT GGAATGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTT GAAGCGATTCTCCTGCCTCAGCCTCCCAAGTATCTGGGATTACAGGCACC CGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCCGCCCAAACTGCTGTTTCTTTTGTTTTTTTTAGAGACGGAGTC TCGATCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGATGACAGGTGCCCGCCACCATGCCTGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACCCCTG GCCTCTGGTGATCCATCCGCCTCGGCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432859	C C	CGGCCGAG others(800): Show CGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGG CCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGC GTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCA CTGCACTCCAGCCTGGGCCACAGATCGAGACTCCGTCTCTAAAAAAAACA AAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAG GGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTCATCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGCAGGTTGCA GTGAGCCGAGATCGCGCCCCTGCATTCCAGCCTGGGCCACAGATCGAGAC TCCATCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGCGGCCGAGGCGG ATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGA AACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGT GCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTCAAC CCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGC CTGGGCCACAGAGCGAGACTCCATCTCTAAAAAAAACAAAAGAAACAGCA GTTTGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0001 a0016c0028t0001	a0016c0028t0001g0160 a0016c0028t0001g0160	1	185	0.0054	807	c.401 others(822): Show c.401-483_401-482insTCCCAAACTGCTGTTTCTTTTGTTTTTTTT AGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATC TTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTC AGCCTCCCAAGTATCTGGGATTACAGGCACCCGCCACCACGCCCGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGATGGAGTCTCGATCTGTGGCCCAGGCT GGAATGCAGGGGCGCGATCTCGGCTCACTGCAACCTGCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCC CGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCCGCCCAAACTGCTGTTTCTTTTGTTTTTTTTAGAGACGGAGTC TCGATCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGATGACAGGTGCCCGCCACCACGCCTGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACCCCTG GCCTCTGGTGATCCATCCGCCTCGGCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432859	C C	CGGCCGAG others(800): Show CGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGG CCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGC GTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCA CTGCACTCCAGCCTGGGCCACAGATCGAGACTCCGTCTCTAAAAAAAACA AAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAG GGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGATACT TGGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCA GTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCCACAGAGCGAGAC TCCGTCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGCGGCCGAGGCGG ATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGA AACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGT GCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTCAAC CCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGC CTGGGCCACAGAGCGAGACTCCATCTCTAAAAAAAACAAAAGAAACAGCA GTTTGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01257.hp2 HG01496.hp2 others(5): Show HG00558.hp1 HG01257.hp2 HG01496.hp2 HG01975.hp1 HG01978.hp2 HG02293.hp2 NA18970.hp1 NA19074.hp2	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0011	a0001c0008 a0003c0002 a0009c0020 others(1): Show a0001c0008 a0003c0002 a0009c0020 a0011c0023	a0001c0008t0001 a0003c0002t0001 a0009c0020t0001 others(1): Show a0001c0008t0001 a0003c0002t0001 a0009c0020t0001 a0011c0023t0001	a0001c0008t0001g0145 a0003c0002t0001g0012 a0003c0002t0001g0027 others(5): Show a0001c0008t0001g0145 a0003c0002t0001g0012 a0003c0002t0001g0027 a0003c0002t0001g0028 a0003c0002t0001g0080 a0003c0002t0001g0144 a0009c0020t0001g0063 a0011c0023t0001g0155	8	185	0.0432	807	c.401 others(822): Show c.401-483_401-482insTCCCAAACTGCTGTTTCTTTTGTTTTTTTT AGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATC TTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTC AGCCTCCCAAGTATCTGGGATTACAGGCACCCGCCACCACGCCCGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGACGGAGTCTCGCTCTGTGGCCCAGGCT GGAATGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTT GAAGCGATTCTCCTGCCTCAGCCTCCCAAGTATCTGGGATTACAGGCACC CGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCCGCCCAAACTGCTGTTTCTTTTGTTTTTTTTAGAGACGGAGTC TCGATCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGATGACAGGTGCCCGCCACCACGCCTGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACCCCTG GCCTCTGGTGATCCATCCGCCTCGGCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432859	C C	CGGCCGAG others(800): Show CGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGG CCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGC GTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCGCTTGAACCCGGGAGGTGCAGGTTGCAGTGAGCCGAGATCGCGCCC CTGCATTCCAGCCTGGGCCACAGAGCAAGACTCCGTCTCTAAAAAAAACA AAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAG GGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGATACT TGGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCA GTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCCACAGAGCGAGAC TCCGTCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGCGGCCGAGGCGG ATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGA AACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGT GCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTCAAC CCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGC CTGGGCCACAGAGCGAGACTCCATCTCTAAAAAAAACAAAAGAAACAGCA GTTTGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02165.hp1 NA18955.hp1 others(2): Show HG00544.hp1 HG02165.hp1 NA18955.hp1 NA18963.hp1 NA19064.hp2	a0004 a0004	a0004c0006 a0004c0010 a0004c0006 a0004c0010	a0004c0006t0001 a0004c0010t0001 a0004c0006t0001 a0004c0010t0001	a0004c0006t0001g0025 a0004c0006t0001g0058 a0004c0006t0001g0059 others(2): Show a0004c0006t0001g0025 a0004c0006t0001g0058 a0004c0006t0001g0059 a0004c0010t0001g0029 a0004c0010t0001g0082	5	185	0.0270	807	c.401 others(822): Show c.401-483_401-482insTCCCAAACTGCTGTTTCTTTTGTTTTTTTT AGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATC TTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTC AGCCTCCCAAGTATCTGGGATTACAGGCACCCGCCACCACGCCCGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGACGGAGTCTCGCTCTGTGGCCCAGGCT GGAATGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTT GAAGCGATTCTCCTGCCTCAGCCTCCCAAGTATCTGGGATTACAGGCACC CGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCCGCCCAAACTGCTGTTTCTTTTGTTTTTTTTAGAGACGGAGTC TTGCTCTGTGGCCCAGGCTGGAATGCAGGGGCGCGATCTCGGCTCACTGC AACCTGCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGATGACAGGTGCCCGCCACCACGCCTGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACCCCTG GCCTCTGGTGATCCATCCGCCTCGGCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432859	C C	CGGCCGAG others(800): Show CGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGG CCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGC GTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCGCTTGAACCCGGGAGGTGCAGGTTGCAGTGAGCCGAGATCGCGCCC CTGCATTCCAGCCTGGGCCACAGAGCGAGACTCCGTCTCTAAAAAAAACA AAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAG GGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGATACT TGGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCA GTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCCACAGAGCGAGAC TCCATCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGAGGCCGAGGCGG ATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGA AACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGT GCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTCAAC CCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGC CTGGGCCACAGAGCGAGACTCCATCTCTAAAAAAAACAAAAGAAACAGCA GTTTGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01169.hp1 HG01346.hp2 others(3): Show HG00735.hp2 HG01169.hp1 HG01346.hp2 HG01516.hp2 HG02683.hp1 NA18961.hp1	a0000 a0002 a0004 others(1): Show a0000 a0002 a0004 a0020	a0000c0039 a0002c0003 a0004c0006 others(1): Show a0000c0039 a0002c0003 a0004c0006 a0020c0045	a0000c0039t0001 a0002c0003t0001 a0004c0006t0001 others(1): Show a0000c0039t0001 a0002c0003t0001 a0004c0006t0001 a0020c0045t0001	a0000c0039t0001g0148 a0002c0003t0001g0091 a0004c0006t0001g0102 others(3): Show a0000c0039t0001g0148 a0002c0003t0001g0091 a0004c0006t0001g0102 a0004c0006t0001g0133 a0004c0006t0001g0135 a0020c0045t0001g0046	6	185	0.0324	807	c.401 others(822): Show c.401-483_401-482insTCCCAAACTGCTGTTTCTTTTGTTTTTTTT AGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATC TTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTC AGCCTCCCAAGTATCTGGGATTACAGGCACCCGCCACCACGCCCGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCTCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGATGGAGTCTCGCTCTGTGGCCCAGGCT GGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTT GAAGCGATTCTCCTGCCTCAGCCTCCCAAGTATCTGGGATTACAGGCACC CGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCCGCCCAAACTGCTGTTTCTTTTGTTTTTTTTAGAGACGGAGTC TCGCTCTGTGGCCCAGGCTGGAATGCAGGGGCGCGATCTCGGCTCACTGC AACCTGCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGATGACAGGTGCCCGCCACCACGCCTGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACCCCTG GCCTCTGGTGATCCATCCGCCTCGGCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(800): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCA CCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGC CCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCGGGGCCCCGACGCGTGCGGCCTC CACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAG CCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGG GCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	807	c.36 others(818): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGC CCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGGCCCC GACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCG GCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCGGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(800): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGG AGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGA GCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGC GGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGG AAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAA GGGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0016 a0005c0006t0001g0016	1	300	0.0033	807	c.-70 others(816): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAA GGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGG GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGG AAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAG GAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGA GGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGG GGGAAGTGGGGAAGGGGAAGG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
CCDC77_chr12_396644_447642	420595	T T	TTCCATTA others(800): Show TTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTC CATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACAC ACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGCTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAG CAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGG AGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTG CTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGC ACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTG AGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCAC TTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACC CTCCATGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0365 a0003c0003t0004g0365	1	432	0.0023	807	c.413 others(824): Show c.413+2009_413+2010insCACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATA GCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGT GCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCA GCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAG TGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCA CTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCAC CCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACT CCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(800): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGCGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGG GGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCC AGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCC GGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGCGCTGA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18950.hp2 NA18951.hp2 others(6): Show NA18943.hp1 NA18950.hp2 NA18951.hp2 NA18967.hp2 NA18982.hp2 NA18986.hp2 NA19009.hp2 NA19055.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 others(6): Show a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270	9	322	0.0280	807	c.165 others(824): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGCGCAGAGGCGCCCCT CACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCT CCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(800): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGG GGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCC AGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCC GGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGCGCTGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	322	0.0031	807	c.165 others(824): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCT CCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(800): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGG GGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCC AGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCC GGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGCGCTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01074.hp2 others(36): Show HG00099.hp2 HG00280.hp1 HG01074.hp2 HG01123.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG02055.hp1 HG02165.hp2 HG02300.hp2 HG02683.hp1 HG02970.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG04115.hp2 NA18612.hp1 NA18941.hp1 NA18953.hp2 NA18975.hp1 NA18980.hp1 NA18983.hp1 NA18988.hp1 NA19004.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19062.hp2 NA19068.hp1 NA19086.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0001t0049 a0001c0001t0050 a0001c0008t0001 a0002c0002t0001	a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0226 others(36): Show a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0241 a0001c0001t0005g0255 a0001c0001t0005g0260 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0011g0231 a0001c0001t0011g0253 a0001c0001t0015g0222 a0001c0001t0015g0261 a0001c0001t0015g0262 a0001c0001t0015g0264 a0001c0001t0021g0229 a0001c0001t0021g0230 a0001c0001t0049g0282 a0001c0001t0050g0218 a0001c0008t0001g0244 a0002c0002t0001g0277	39	322	0.1211	807	c.165 others(824): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCT CCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(800): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGGCCGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTG GGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCC CAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCC CGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGCGCTGA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0005	a0005c0007t0005g0224 a0005c0007t0005g0224	1	322	0.0031	807	c.165 others(824): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACC TCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGC CGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505662	C C	CGGGCGGG others(800): Show CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CGTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCC GCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCG GCTGGCCGGGCGTGGGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCC CCCCACCTCCCTCCCGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGCGGGGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18985.hp1 NA19060.hp2 NA18939.hp1 NA18985.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0001g0233 a0001c0001t0001g0247 a0001c0001t0001g0257	3	322	0.0093	807	c.165 others(824): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCT CCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CENPM_chr22_41933737_41952152	41939844	G G	GAAGAAAA others(800): Show GAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAAAGAA AGAAAGAAAGAAAAAGAAAGAAAGAAAGAGAAAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAA GAAAGAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	258	0.0039	807	c.403 others(822): Show c.403-649_403-648insTTTCTTTCTTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTCTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(800): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18942.hp1 NA18946.hp1 others(2): Show HG02735.hp2 NA18942.hp1 NA18946.hp1 NA18992.hp2 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 others(2): Show a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0026 a0001c0002t0002g0046	5	204	0.0245	807	c.223 others(828): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTCCAGATTTATGGTTTTTATTACATAAGG TAAAAATATTACAGATACGGAAAAATTAATTCATTCAACAATAATTCAAT TTACAGAATTACAGATTATGTTTCCAGTTTACTGCCTATTATAGTCTGGA ATACAGTATTTGATGCTACCAGTCTTTGGCATCTTGTAACATTCTGTCAA TTAATTGGCCAAATAATGCTAGGTCTCCATTTTAACCTGATTATCTGGAA TTAATATTTCTCCATATTTTCACTAATGACTTTCAAACTAGTTGACTGAT TTTTGCCTAAAGAAAATCACGATACTTCTTTAGTTTTACTTTTTGTTTGT AACTTAAAAAGGGAAGGACAATTGTCACATTTTAAAGAATGTAATAAAAT GTCATACCTGACGTAGCAAATTGTATTTTTCAAAAATAACTACAACAATA TATCCCATCCCACATGCTCTTCCAAAACTTTGCCACTCACCCTCAAGAGG TGGGGGTTATGTCCCTTCCCCTTAATTTGTGTGTCATTAGACTGACACAC GTGATAGACAACACTGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAATA CGGTCCTTGAGTCACTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAA GCCTGGGCTACATGAAGAGACCCACATGGAGAGGAATGAAGTTCCTATCT CTCAATCCAGGCTGAGCTCCCAGCCAATAACCAGTGCCTGTGAGTGATCC CTCTTGGAGAGGGGTCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(800): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	204	0.0049	807	c.223 others(828): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTCCCAGATTTATGGTTTTTATTACATAAGG TAAAAATATTACAGATACGGAAAAATTAATTCATTCAACAATAATTCAAT TTACAGAATTACAGATTATGTTTCCAGTTTACTGCCTATTATAGTCTGGA ATACAGTATTTGATGCTACCAGTCTTTGGCATCTTGTAACATTCTGTCAA TTAATTGGCCAAATAATGCTAGGTCTCCATTTTAACCTGATTATCTGGAA TTAATATTTCTCCATATTTTCACTAATGACTTTCAAACTAGTTGACTGAT TTTTGCCTAAAGAAAATCACGATACTTCTTTAGTTTTACTTTTTGTTTGT AACTTAAAAAGGGAAGGACAATTGTCACATTTTAAAGAATGTAATAAAAT GTCATACCTGACGTAGCAAATTGTATTTTTCAAAAATAACTACAACAATA TATCCCATCCCACATGCTCTTCCAAAACTTTGCCACTCACCCTCAAGAGG TGGGGGTTATGTCCCTTCCCCTTAATTTGTGTGTCATTAGACTGACACAC GTGATAGACAACACTGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAATA CGGTCCTTGAGTCACTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAA GCCTGGGCTACATGAAGAGACCCACATGGAGAGGAATGAAGTTCCTATCT CTCAATCCAGGCTGAGCTCCCAGCCAATAACCAGTGCCTGTGAGTGATCC CTCTTGGAGAGGGGTCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTTCCTCC others(800): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT TCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCCCTCCTTCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTG TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0130 a0001c0002t0005g0130	1	223	0.0045	807	c.-42 others(818): Show c.-4215_-4214insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTTCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTTCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCT CTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTC TCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCC TGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
DLGAP2_chr8_732628_1713476	1450088	G G	GCTGTGAG others(800): Show GCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGTGACTGTAGC GGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGTGACTGT AGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGTGAC TGTAGCGGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCCTCGGTGGCTGT GACTGTAGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGC TGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGA GGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGC GGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGTGACTGT AGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGTGAC TGTAGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGT GACTGTAGCGGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCCTCGGTGGC TGTGACTGTAGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGT GGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGC TGAGGCTGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCCTCGGTGGCTGT GGCTGAGGCTGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCCCCGGTGGC TCGGGCAGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGA GGCGGAGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0031 a0003c0005t0002g0031	1	40	0.0250	807	c.107 others(826): Show c.107-51278_107-51277insCTGTGAGGGTGAAGACGAGGTGGGCG GCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTGAAGACGAGGTGG GCGGCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTGAAGACGAGG TGGGCGGCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTGAAGATG AGGTGGGCGGCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTGAAG ACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACG AGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGG TGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGG GCGGCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTGAAGACGAGG TGGGCGGCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTGAAGACG AGGTGGGCGGCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTGAAG ATGAGGTGGGCGGCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTG AAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAG ACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGATG AGGTGGGCGGCCTCGGTGGCTGTGGCTGAGGCTGAGCTGTGAGGGTGAAG ATGAGGTGGGCGGCCCCGGTGGCTCGGGCAGAGCTGTGAGGGTGAAGACG AGGTGGGCGGCCTCGGTGGCTGAGGCGGAGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
DNAAF4_chr15_55425308_55513234	55446361	A A	ACTCCTCA others(800): Show ACTCCTCACATCCCAGATGATGGGCGGCCGGGCAGAGGCGCTCCTCACTT CCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACTTCCCAGATGGGGTG GCGGTCGGGCAGAGGTGCTCCTCACATCCTAGACGGGGTGGCCAGGCAGA GGTGCTCCTCACTTCCCAGACCGGGTGGCCGGGCAGAGGCGCTCCTCACA TCCCAGATGAAGGGCAGCCAGGCAGAGGCGCTCCTCACCTTCCAGACAGG GCGGCCGAGCAGAGGCGCACCCTGCTTCCCAGATGGGGTGGCGGCCGGGC AGAGGCGCTCCTCACATCCCAGACGGGGTGGCCGGGCAGAGGCGCTCCTC ACTTCCTAGACGGGGCAGCCGGGCAGAGACACTCCTCACATCCCAGACAG GGTGGTGGCCAGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCCGGG CAGAGGCGCTCCTCACATCCCTGATGGGGTGGCCGGGCAGAGGTGCTCCT CACATCCCAGACGGGCCGGCTGGGCAGAGGTGCTCCCCACTTCCCAGACG GGGTGGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGATGATGGGCGGCC GGGCAGAGGCGCTCCCCACTTCCCAGACGGGGCAGCTGGGCAGAGGCGCT CCCCACTTCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCTCACTTCCCAG ATGGGGCAGCTGACGGGCAGAGGCGCTCCTCACATCCCAGACGGGGGGGG GGGGGCGGCTGGGCAGAGGCACTCCTCACTTCCCAGACGGGGTGGCCAGG CAGAGGCG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	338	0.0030	807	c.783 others(824): Show c.783+3860_783+3861insCGCCTCTGCCTGGCCACCCCGTCTGGGA AGTGAGGAGTGCCTCTGCCCAGCCGCCCCCCCCCCCCCGTCTGGGATGTG AGGAGCGCCTCTGCCCGTCAGCTGCCCCATCTGGGAAGTGAGGAGCGCCT CTGCCCGGCTGCCCCGTCTGGGAAGTGGGGAGCGCCTCTGCCCAGCTGCC CCGTCTGGGAAGTGGGGAGCGCCTCTGCCCGGCCGCCCATCATCTGGGAT GTGAGGAGCGCCTCTGCCTGGCCGCCACCCCGTCTGGGAAGTGGGGAGCA CCTCTGCCCAGCCGGCCCGTCTGGGATGTGAGGAGCACCTCTGCCCGGCC ACCCCATCAGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCATCTGGGA TGTGAGGAGCGCCTCTGCCTGGCCACCACCCTGTCTGGGATGTGAGGAGT GTCTCTGCCCGGCTGCCCCGTCTAGGAAGTGAGGAGCGCCTCTGCCCGGC CACCCCGTCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCACCCCATCT GGGAAGCAGGGTGCGCCTCTGCTCGGCCGCCCTGTCTGGAAGGTGAGGAG CGCCTCTGCCTGGCTGCCCTTCATCTGGGATGTGAGGAGCGCCTCTGCCC GGCCACCCGGTCTGGGAAGTGAGGAGCACCTCTGCCTGGCCACCCCGTCT AGGATGTGAGGAGCACCTCTGCCCGACCGCCACCCCATCTGGGAAGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAAGTGAGGAGCGCCTCTGCC CGGCCGCCCATCATCTGGGATGTGAGGAG	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	6/9			chr15	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(800): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCTGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAAATTGATGCAAA ACATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGT ATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTA TACCACAACCTCGTGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAAC AGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATA ATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGG TTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCA TGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTC AGAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATGTCTATTT CCTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGTGAAATAGA ATTTTCCATTACTTTTCTTGCCTCTGAACTGGGTTTTGGATAAATCAGTT TTATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	374	0.0027	807	c.-51 others(818): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CTGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA AGAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAAT AAGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCT TGCTATGGCACTGTATACCACAACCTCGTGTGATGGGTATTGTCATTTCT TTTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAG AACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTG TCAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTA ATGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAA GTGGTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATGTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAA TCAATGTGAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAACTGGGTT TTGGATAAATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(800): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATATATATAAGTAC ATATAAATATATATACATAAATATATAAATATATAAATATATAAATACAT AATATATATAAATATAAAATATATATAATATATAAAATATATTAAAAATA TAAAAATATATATAAAAAATATATAAATATATAAAAATATATAAAAAATA TATACACATATAAATATATATAAAAATATATAAATATATATAAAAATATA TAAATATATATTATATATAAATATATAATATATAAATATATATAAATATA TAAATATATATAAATATATACAATATATAAATATATATAAATATATACAA TATATAAATATATATATACAATATATAAATATATATAAATATATACAATA TATAAATATATATAAATATATACAATATATAAATATATATAAATATATAC AATATATAAATATATATAAATATATATAATATATAAATATATATAAATAT ATAAATATATATAAATATATATAATATATAAATATATAAAAATATATAAA TATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	344	0.0029	807	c.617 others(824): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATGTATATATATTTATATGTACTTATATATATATATTT ATATATTTATATATTTATATATTTATGTATTTATATATTTTTATATATTT ATATATTTATATATTTATATATATTTATATATTTATATATTTATATATAT TTATATATATTTATATATTTATATATTTTTATATATTTATATATTTTTAT ATATTTATATTTATATATTTATATATTTATATATTTATATATTATATATT TATATTTATATATGTATATATTTTTATATATTTTTATTTATATATTTATA TATTTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(800): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATTTAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATATATATAAGTAC ATATAAATATATATACATAAATATATAAATATATAAATATATAAATACAT AATATATATAAATATAAAATATATATAATATATAAAATATATTAAAAATA TAAAAATATATATAAAAAATATATAAATATATAAAAATATATAAAAAATA TATACACATATAAATATATATAAAAATATATAAATATATATAAAAATATA TAAATATATATTATATATAAATATATAATATATAAATATATATAAATATA TAAATATATATAAATATATACAATATATAAATATATATAAATATATACAA TATATAAATATATATATACAATATATAAATATATATAAATATATACAATA TATAAATATATATAAATATATACAATATATAAATATATATAAATATATAC AATATATAAATATATATAAATATATATAATATATAAATATATATAAATAT ATAAATATATATAAATATATATAATATATAAATATATAAAAATATATAAA TATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	344	0.0029	807	c.617 others(824): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATGTATATATATTTATATGTACTTATATATATATATTT ATATATTTATATATTTATATATTTATGTATTTATATATTTTTATATATTT ATATATTTATATATTTATATATATTTATATATTTATATATTTATATATAT TTATATATATTTATATATTTATATATTTTTATATATTTATATATTTTTAT ATATTTAAATTTATATATTTATATATTTATATATTTATATATTATATATT TATATTTATATATGTATATATTTTTATATATTTTTATTTATATATTTATA TATTTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GALR1_chr18_77244848_77282900	77252881	T T	TCACCACC others(800): Show TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCATC ACCACCAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	366	0.0027	807	c.666 others(824): Show c.666+1681_666+1682insCCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCAC CACCATCACCACCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(800): Show CCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCACCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATC ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATC ACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCAC CACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAACA CCACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACC ATCTCCTTCAACACCACTACCCCCAGCACTACCACCATCACCTCTTCCAC CACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCT CCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATC ACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCAC TATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCATCACCA CTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATC TCCTTCAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0216 a0001c0002t0006g0216	1	274	0.0037	807	c.804 others(824): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGAT GAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGG TGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTG GTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGT AGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGA TGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTG GTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAA GGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGG TAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAG GAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGT TGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGG TAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAG GAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATAATGGT GGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGG TGATGGTGGTAGTGCTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(800): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATAT ATATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATATGCAACATATATATGT GGAACCAATACATATATGCAACATATATATGTGGAACCAATACATATATG CAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0224 a0002c0002t0016g0224	1	323	0.0031	807	c.-36 others(818): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAT GCAACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGA ACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(800): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATATGCAACATATATATGTGGAACCAATACATATATG CAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp1 NA18944.hp2 HG00438.hp2 HG00558.hp1 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0001 a0002c0002t0002g0222 a0002c0002t0002g0223	3	323	0.0093	807	c.-36 others(818): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACATGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGA ACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(800): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATATGCAACATATATATGTGGAACCAATACATATATG CAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19010.hp2 NA19006.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	2	323	0.0062	807	c.-36 others(818): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACATGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATATGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGA ACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar

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