Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GAL3ST2_chr2_241771822_241809287	241806805	C C	CCTCAACC others(416): Show CCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAG GGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAACC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	314	0.0032	423	c.26 others(434): Show c.2639_*2640insCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCT CCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTC CCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCC CCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2519		chr2	TogoVar
GPATCH2_chr1_217421992_217636090	217524869	G G	GGGAGAGG others(416): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0055 a0002c0002t0013g0055	1	188	0.0053	423	c.109 others(442): Show c.1099-9981_1099-9980insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(416): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCCCTCCTTCCCCTTTCCCCCT CCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCC TTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03130.hp2 HG01081.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0017 a0001c0001t0002g0018	2	290	0.0069	423	c.972 others(438): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCCCTC CTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCT CCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCCC others(416): Show CCCTCCCCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC TCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0070 a0002c0008t0070	a0002c0008t0070g0060 a0002c0008t0070g0060	1	290	0.0035	423	c.427 others(440): Show c.427-1072_427-1071insCCCTCCTCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCTCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HIVEP3_chr1_41501365_41923922	41544985	C C	CATCATCA others(416): Show CATCATCACCACCACCACTACCACCTCTACCACCACCATCACCACCACCA CTATCACCACCTCTACCACCACCATCACCACCACCACCACCATCACCTCT ACCACCACCATCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCATCACCACCTCTACCACCACCATCACCACCACCACCATCACCACCT CTACCACCACCATCACCACCACCACTATCACCACCTCTACCACCACCATC ATCACCACCACCACTACCACCTCTACCACCACCATCACCACCACCACCAT CACCTCTACCACCACCATCACCACCACCACCACCATCACCACCTCTACCA CCACCATCACCACCACCACCACCACCACCTCTACCACCACCATCACTACT ACCACCACCACCATCACCACCTCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0033 a0001c0011t0004g0033	1	134	0.0075	423	c.520 others(444): Show c.5208-20076_5208-20075insAGAGGTGGTGATGGTGGTGGTGGT AGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTG ATGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGAT GATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAG AGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT AGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAG TGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(416): Show CCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCACCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATC ACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCAC CACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCATCA CCACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACC ATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTC CACCACCACCACCATCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0187 a0001c0002t0011g0187	1	274	0.0037	423	c.804 others(440): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGAT GAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATG GTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGT GGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGG TGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTG GTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(416): Show CCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATC ACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCAC CACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAACA CCACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACC ATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTC CACCACCACCACCATCTCCTTCAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0274 a0001c0008t0003g0274	1	274	0.0037	423	c.804 others(440): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTT GAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATG GTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGT GGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGA TGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTG GTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(416): Show CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTT CAACACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCA CCATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTTCACCACC ACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCAC CTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCA CTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCC TCCACCACCACCACCACCACCACA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	274	0.0037	423	c.804 others(440): Show c.804+4446_804+4447insTGTGGTGGTGGTGGTGGTGGTGGAGGAG ATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGT GATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGA TGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTG GTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGT AGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGG AGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTA GTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGA GGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(416): Show TCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCAC CATCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCA CTACCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCATCACC ACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCAT CTCCTTCAACACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCA CTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCC TTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCAC CACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTA TCACCATCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0158 a0001c0001t0007g0158	1	274	0.0037	423	c.804 others(440): Show c.804+4319_804+4320insTGATGGTGGAGGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGA TGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAG ATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGT GGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGG TGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTG ATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGT GGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGG TAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(416): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0150 a0002c0003t0001g0150	1	308	0.0033	423	c.127 others(442): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(416): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGAGG GAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAGAGGAA GAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGGAGAA AATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGGGGAG GAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAG GAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0034 a0001c0001t0008g0034	1	316	0.0032	423	c.583 others(438): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCC TCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTC TTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTC CCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTC TTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGAC CCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCC TTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(416): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAG GAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGGA GAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGGGAG GAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAG GAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp2 HG01891.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0171 a0001c0001t0001g0089 a0001c0001t0001g0171	2	316	0.0063	423	c.583 others(438): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCC TCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCATC TTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTC CCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTC TTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGAC CCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCC TTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(416): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAG GGAGATGGAGGGAGGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAG GGAAGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGA GGGGGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGA TGAAGAGGAAGAGGAAGAAGAGGAGGAGGAAAAGAAGATGAATAAGAGGA GGAGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAG GAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAG GAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	316	0.0032	423	c.583 others(438): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC TCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTCT TATTCATCTTCTTTTCCTCCTCCTCTTCTTCCTCTTCCTCTTCATCTTCC ACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCCC TCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCCTCTTC CACTCCCTCTTTTCCTCCTCCTCTTCCTCCCTCCCTCCATCTCCCTGACC CCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCCTCTTCCCTCTCCTCCCC TTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LHPP_chr10_124456823_124619141	124610410	C C	CGGGTGAG others(416): Show CGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GAGCGGGTGAGGGTGCTGGTGGAGCAGGTGAGGGTGCGGGTGAGGGTGCT GGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGCGAGGG TGAGGGTGTTGACGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	260	0.0039	423	c.717 others(440): Show c.717-2837_717-2836insCTGGTGGAGCGGGTGAGGGTGCGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGG GTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAG GGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGG TGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGG GTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGT GAGGGAGCGGGTGAGGGTGCTGGTGGAGCAGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGCG AGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610410	C C	CGGGTGAG others(416): Show CGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCT GGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGCGAGGG TGAGGGTGTTGACGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00639.hp2 others(52): Show HG00099.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01975.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02132.hp1 HG02165.hp2 HG02300.hp2 HG02451.hp1 HG02615.hp1 HG03017.hp1 HG03490.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18964.hp2 NA18965.hp2 NA18975.hp1 NA18975.hp2 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19064.hp1 NA19074.hp1 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0005 a0001c0001 a0002c0002 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0002c0002t0001 a0006c0005t0001	a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0026 others(52): Show a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0252 a0001c0001t0003g0064 a0001c0001t0004g0020 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0010g0042 a0002c0002t0001g0023 a0002c0002t0001g0123 a0002c0002t0001g0151 a0002c0002t0001g0176 a0006c0005t0001g0162	55	260	0.2115	423	c.717 others(440): Show c.717-2837_717-2836insCTGGTGGAGCGGGTGAGGGTGCGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGG GTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAG GGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGG TGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGG GTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGT GAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGCG AGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610410	C C	CGGGTGAG others(416): Show CGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCT GGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGCGAGGG TGAGGGTGTTGACGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	260	0.0039	423	c.717 others(440): Show c.717-2837_717-2836insCTGGTGGAGCGGGTGAGGGTGCGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGG GTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAG GGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGG TGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGG GTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGT GAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGCG AGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	857623	A A	ACGGGACG others(416): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGG TGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTG AGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTC ACGGGACGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	294	0.0034	423	c.153 others(442): Show c.1530-2918_1530-2917insAGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCATCCCGTGACACCACTGCACACCCATCCCGAGACACCACTCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858389	T T	TCGGGACG others(416): Show TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGACTGGTGTCACG GGACGGGTGTGACTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGACTGGTGTCACGGGACGGGT GTGACTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTG AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCA CGGGACGCGTGTGCAGTGGTGTCA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	294	0.0034	423	c.153 others(442): Show c.1530-3684_1530-3683insTGACACCACTGCACACGCGTCCCGTG ACACCACTGCACACGCGTCCCGTGACACCACTGCACACGCGTCCCGTGAC ACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCAGTCACAC CCGTCCCGTGACACCAGTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGTGACACCACTCACACCCGTCCCGTGACACCAGTCACACCCGTCCCG TGACACCAGTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858543	C C	CAGTGGTG others(416): Show CAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGAG TAGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCACTGATGT CACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGTTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCACGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0015 a0005c0034t0015	a0005c0034t0015g0274 a0005c0034t0015g0274	1	294	0.0034	423	c.153 others(442): Show c.1530-3838_1530-3837insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCCTCCCGAGACACCACTGCACAC CCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGTGACAACACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCC CGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGAC ATCAGTGCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACTACT CACACGCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LUC7L_chr16_183990_234449	186391	G G	GGAGGAAC others(416): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0338	1	350	0.0029	423	c.28 others(434): Show c.2806_*2807insTCCCTCCCGTGTCGCTGTTCCCCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTC CGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2598		chr16	TogoVar
MAN2B2_chr4_6570189_6628362	6579289	T T	TCACCACC others(416): Show TCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCACCATCACCATCAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0239 a0001c0001t0001g0240	2	362	0.0055	423	c.391 others(438): Show c.391+802_391+803insCCATCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCACCACCACCATCACCATCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(416): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGGCACCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTC CTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTG CCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCAC ATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTG GCGAGTGTGCCCCCCCCCGCGCCT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18983.hp1 NA18747.hp2 NA18983.hp1	a0001 a0041 a0001 a0041	a0001c0001 a0041c0023 a0001c0001 a0041c0023	a0001c0001t0001 a0041c0023t0001 a0001c0001t0001 a0041c0023t0001	a0001c0001t0001g0158 a0041c0023t0001g0056 a0001c0001t0001g0158 a0041c0023t0001g0056	2	292	0.0069	423	c.218 others(438): Show c.2189-97_2189-96insAGGCGCGGGGGGGGGCACACTCGCCAGGAG CCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGG AGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGG GGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACT CGCCAGGAGCCTATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG GGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGTGCCGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(416): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02145.hp2 HG02148.hp2 others(1): Show HG01993.hp2 HG02145.hp2 HG02148.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0036 a0001c0001t0001g0037	4	390	0.0103	423	c.112 others(440): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(416): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	390	0.0026	423	c.112 others(440): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MICAL3_chr22_17782649_18029561	17876847	G G	GGGAAGTT others(416): Show GGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAG TTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGA GCTTATGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0163 a0001c0002t0024g0163	1	274	0.0037	423	c.224 others(442): Show c.2242-4825_2242-4824insATAACCTCCCTAACCTCCATAAGCTC CCTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCC CTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCC TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACT TCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACCTCCCT AACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCT CCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877049	G G	GGTTAGGG others(416): Show GGTTAGGGAGATTATGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTA GGGAGGTTAGGGAGGTTAGGGAGGTTATGGCAGTTATGGAGGTTAGGGAG ATTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGG TGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTTAGGGAAGT TAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGG AGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAGGTTATGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0002 a0002c0048t0002	a0002c0048t0002g0077 a0002c0048t0002g0077	1	274	0.0037	423	c.224 others(442): Show c.2242-5027_2242-5026insTTCCCTAACCTCCATAACCTCCCTAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCC CTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAAC TTCCCTAACCTCCATAACCTCCCTAACTTCCCTAACCTCCATAACCTCCC TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACC TCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCT AACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAATCT CCCTAACCTCCATAACTGCCATAACCTCCCTAACCTCCCTAACCTCCCTA ACCTCCATAACTTCCCTAACCTCCTTAACCTCCATAATCTCCCTAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877522	G G	GGGAAGTT others(416): Show GGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTGAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGA GGTTATGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	274	0.0037	423	c.224 others(442): Show c.2242-5500_2242-5499insATAACCTCCCTAACCTCCATAACCTC CCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCC CTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTCACCTCCATAACCTCCCTAACTTCCCTAACCTCCATAACCTCCC TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACT TCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MLPH_chr2_237482251_237560322	237542873	G G	GGGGATGG others(416): Show GGGGATGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTTA GTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGAC AGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGG GGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGACAGTGCTG AGTGGGGGGGCAGTGGTGAGTGGC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	286	0.0035	423	c.153 others(440): Show c.1539+216_1539+217insGATGGTGAGTGGGCACGGTGGTGAGTGG AGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTG AGTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGA CAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTTAG TGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTG GTGAGTGGAGACAGTGCTGAGTGGGGGGGCAGTGGTGAGTGGCGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(416): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG02145.hp2 HG02148.hp1 others(1): Show HG01993.hp2 HG02145.hp2 HG02148.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0035 a0001c0001t0002g0002 a0001c0001t0002g0035	4	364	0.0110	423	c.18 others(434): Show c.1863_*1864insTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGG CTGGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGT TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTA CTCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCC AGCCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCAC CCAGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACAC CTCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAG CTACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(416): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	364	0.0028	423	c.18 others(434): Show c.1863_*1864insTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAG GCTGGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGG TTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGT ACTCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGC CAGCCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCA CCCAGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACA CCTCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGA GCTACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(416): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTTATATATA TTATATATATTATATATAATATATACATATTATATATTATATATAATATA TATACATATTATATATTATATATATAATATATATACATATTATATATTAT ATATAATATATATACATATTATATATTATATATATAATATATATACATAT TATATATTATATATAATATATATACATATTATATATTATATATATAATAT ATATACATATTATATATTATATATAATATATATACATATTATATATAATA TATATACATATTATATTATATATAATATATATACATATTATATATAATAT ATAATATATTACATATTATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01993.hp1 HG01081.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0264 a0001c0001t0001g0218 a0001c0001t0001g0264	2	332	0.0060	423	c.262 others(442): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTTATATATATTATATATATTATATATAATATATACA TATTATATATTATATATAATATATATACATATTATATATTATATATATAA TATATATACATATTATATATTATATATAATATATATACATATTATATATT ATATATATAATATATATACATATTATATATTATATATAATATATATACAT ATTATATATTATATATATAATATATATACATATTATATATTATATATAAT ATATATACATATTATATATAATATATATACATATTATATTATATATAATA TATATACATATTATATATAATATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(416): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATAAAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	423	c.-28 others(434): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATC ATATAAAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAT others(416): Show TTATATATAAATATATAATATATATAATATATATTATATATAAATATATA ATATATATTATATATTATATATATTATAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATAATATATAATATATATTATATATAAATATATATAATATATAATATATA TTATATATAAATATATATATAATATATAATATATATTATATATAAATATA TAATATATAATATATATTATATTATATATTATATAATATGTAAATATATA TTATATATATTATATAATATATAATATATTATATATATTATATAATATAT TATATATAATATAATATATATAATATATTATATATTATATAATATATTAT ATATAATATATAATATATTATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0171 a0002c0003t0012g0171	1	348	0.0029	423	c.48+ others(438): Show c.48+1021_48+1022insATATATAAATATATAATATATATAATATAT ATTATATATAAATATATAATATATATTATATATTATATATATTATAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATATAATATATATTATATATAAATATATATATAATATATAATAT ATATTATATATAAATATATAATATATAATATATATTATATTATATATTAT ATAATATGTAAATATATATTATATATATTATATAATATATAATATATTAT ATATATTATATAATATATTATATATAATATAATATATATAATATATTATA TATTATATAATATATTATATATAATATATAATATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEU4_chr2_241804193_241822413	241806805	C C	CCTCAACC others(416): Show CCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAG GGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAACC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	319	0.0031	423	c.-24 others(434): Show c.-2473_-2472insCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCT CCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTC CCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCC CCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2387		chr2	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(416): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	356	0.0028	423	c.91+ others(436): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGG GGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(416): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGA GGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGG GATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAG GGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGA AAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAG GGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGG GGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0199 a0003c0005t0007g0199	1	344	0.0029	423	c.154 others(440): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCT CCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCCCCCTCCC CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(416): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCT CCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTT CCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0191 a0001c0001t0004g0163 a0001c0001t0001g0191 a0001c0001t0004g0163	2	326	0.0061	423	c.433 others(440): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(416): Show ATAACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18949.hp2 NA18942.hp2 NA18949.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0256 a0001c0003t0002g0275 a0001c0003t0002g0256 a0001c0003t0002g0275	2	378	0.0053	423	c.489 others(440): Show c.489+2584_489+2585insATAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGTAAC TATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC TATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC TATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(416): Show ATAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0299 a0002c0008t0002g0299	1	378	0.0027	423	c.489 others(440): Show c.489+2870_489+2871insATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATAAAATATATAGTTATGTAACTATATAAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	841574	A A	AGCATCTC others(416): Show AGCATCTCACACGGGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACAC GGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGG TCCCCCCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACC ACAGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACACCCGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGA GCAGGTCCTCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCTCCC GACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCA CAGGCAGGTCCCCCCGACCACGGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0173 a0001c0001t0026g0173	1	242	0.0041	423	c.361 others(442): Show c.361-15497_361-15496insGCCGTGGTCGGGGGGACCTGCCTGTG GGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGG GAGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGAGGACCTGCTC GCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAG ATGCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGCTGTGG TCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACC TGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGT GTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPCML_chr11_132409981_133537501	133082525	C C	CCCTCCTC others(416): Show CCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCC TCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCC TCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCA TCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCC TCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCT CCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCT CCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCC CCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCT CGCCCATCCCCCTTCCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	68	0.0147	423	c.62- others(442): Show c.62-139516_62-139515insAGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGG GAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAG GAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAG AGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGG ATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATG AGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGG AGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGG GGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133082525	C C	CCCTCCTC others(416): Show CCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCC TCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCC TCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCA TCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCC TCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCT CCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCT CCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCC CCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCT CGCCCATCCCCCTTCCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01255.hp1 HG01516.hp2 others(4): Show HG01071.hp1 HG01255.hp1 HG01516.hp2 HG04115.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0015 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0004g0018 a0001c0001t0014g0017	7	68	0.1029	423	c.62- others(442): Show c.62-139516_62-139515insAGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGG GAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAG GAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAG AGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGG ATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATG AGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGG AGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGG AGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OTOF_chr2_26452203_26483124	26476493	T T	TCCCCCAC others(416): Show TCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCTGCTCCCCCCCC ACCCCTTTCGCTCCCCCTTCCCACCAACCTCTTCCGCCCACCCCTTCCCC CACCCCTTCCCTCCCCCACCTCCTTCCCCACCAACCTTCCCACCGCCCAC CTCCTCCCCTACCACCTTCCCCCACCTCCTTCCCCAGCCCCTTCCCCCCC ACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCAC CCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACGTCCTTCCCCACCC CTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCAGCCCT TCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTC CCCCACCCCTTCCCCCACCCCTTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	330	0.0030	423	c.436 others(438): Show c.436-177_436-176insGAAGGGGTGGGGGAAGGGGTGGGGGAAGGG GTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGCT GGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGAAGGACGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG GAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGG GAAGGGGCTGGGGAAGGAGGTGGGGGAAGGTGGTAGGGGAGGAGGTGGGC GGTGGGAAGGTTGGTGGGGAAGGAGGTGGGGGAGGGAAGGGGTGGGGGAA GGGGTGGGCGGAAGAGGTTGGTGGGAAGGGGGAGCGAAAGGGGTGGGGGG GGAGCAGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
PLCB1_chr20_8127266_8889900	8661960	T T	TAATTATT others(416): Show TAATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATA ATTATATATAATTATATAATTATTTATTATATAATTATATATAATTATAT AATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATAA TTATATATAATTATATAATTATTTATTATATAATTATATATAATTATATA ATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATAAT TATATATAATATACAATTATTTATTATATAATTATATATAATATACAATT ATTTATTATATAATTATATATAATATACAATTATTTATTATATAATTATA TATAATATACAATTATTTATTATATAATTATATATAATATACAATTATTT ATTATATAATTATATATAATATAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0036 a0001c0016t0001g0036	1	106	0.0094	423	c.862 others(440): Show c.862+3317_862+3318insTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATT TATTATATAATTATATATAATTATATAATTATTTATTATATAATTATATA TAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATTT ATTATATAATTATATATAATATACAATTATTTATTATATAATTATATATA ATATACAATTATTTATTATATAATTATATATAATATACAATTATTTATTA TATAATTATATATAATATACAATTATTTATTATATAATTATATATAATAT ACAATTATTTATTATATAATTATATATAATATACAATTATTTATTATATA ATTATATATAATTATATAATTATTTATTATATAATTATATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(416): Show AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGC CTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03579.hp2 HG02280.hp2 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0301 a0001c0008t0004g0302 a0001c0008t0004g0301 a0001c0008t0004g0302	2	340	0.0059	423	c.227 others(440): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGT TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397973	A A	AGGGGGCC others(416): Show AGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCT GTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0198 a0001c0003t0036g0198	1	340	0.0029	423	c.227 others(440): Show c.227+3843_227+3844insCCTGTCCTCACCAGCCTTGTCATCTCTG AGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCT TGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCCC TCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRPF31_chr19_54110754_54136713	54133778	T T	TCTCTCCA others(416): Show TCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCT TCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTC ACTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCCCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	227	0.0044	423	c.23 others(434): Show c.2346_*2347insCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTC TCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTC TCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCT CCCCTCACTCCACCTTCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2066		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(416): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTC TCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	227	0.0044	423	c.23 others(434): Show c.2397_*2398insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
RAB7B_chr1_205971740_206008395	205985758	C C	CACCAGGC others(416): Show CACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCA GGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCATCAGGCCC ACCATCCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCAT CCCCACCAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCA CCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCAC CATCCCCACCATCCCCACCAGGCCCACCATCCCCATCAGGCTCACCAGGC CCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACC AGGCCCACCATCCCCACCAGGCCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	330	0.0030	423	c.397 others(436): Show c.397-94_397-93insAGGCCTGGTGGGGATGGTGGGCCTGGTGGGGA TGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTG AGCCTGATGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCT GGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGG GGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTG GTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGG CCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGA TGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGG ATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGT	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(416): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGGAGGAGGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAG GAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAAGGGGGAG GGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGA GGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGAC GGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	423	c.36 others(434): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGGGAGGAGGGGAGG GGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGGAGGAGGGGGAGGGGGGAG GAGGGAGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGAGGA GGGGAGGGGGAGGAGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAG GAGGGAAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGG CGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar

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