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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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
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(719): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTAAATATATAAATTATATAATATATATTATATAT TGTATATTATATAATTTATATAATATATTATATGTTATATAATATATATT ATATATTGTATATATTATATTATATATTATATATTTTATATATCATATAT AGTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATAT TTTTATATATTATATAGTATACTATATAATATATATTTTTATATATTATA TATAATATATATAATTATATATCATATATATTTATATAATATATGATATA TAATATATAATATATATTATGTATTATATAATTATATAAAATATATCATA TATTATATATTATAAATAATATATTATATATTATATTATATATTATAAAT AATATATTATATATTATATTATATATTATAAATAATATATTATATATTAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATATTACATATTATAAATAATATATTATATATTATA TTATATATTATAAATAATATATTATATATTATATTATAAATAATATATTA TATATTATAAATAATATATTATATATTATATTATAAATAATATATATTAT AAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18964.hp1 NA18980.hp1 others(1): Show NA18954.hp1 NA18964.hp1 NA18980.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0046 a0001c0001t0001 a0001c0001t0003 a0001c0001t0046	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0003g0053 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0003g0053 a0001c0001t0046g0027	4	302	0.0133	726	c.-1- others(743): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTAAATATATAAATTATAT AATATATATTATATATTGTATATTATATAATTTATATAATATATTATATG TTATATAATATATATTATATATTGTATATATTATATTATATATTATATAT TTTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTAT ATAGTATACTATATATTTTTATATATTATATAGTATACTATATAATATAT ATTTTTATATATTATATATAATATATATAATTATATATCATATATATTTA TATAATATATGATATATAATATATAATATATATTATGTATTATATAATTA TATAAAATATATCATATATTATATATTATAAATAATATATTATATATTAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATATTATATATTATAAATAATATATTATATATTATA TTATATATTATAAATAATATATTATATATTATATTACATATTATAAATAA TATATTATATATTATATTATATATTATAAATAATATATTATATATTATAT TATAAATAATATATTATATATTATAAATAATATATTATATATTATATTAT AAATAATATATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF365_chr10_62369369_62407450	62370953	G G	GTGATATA others(719): Show GTGATATATATCATATGTGATATATATCATATATATCACATATGTGATAT ATATCATATGTGATATATATCATATATATCACATATGTGATATATATCAT ATGTGATATATATCATATATATATCACATATGTGATATATCATATGTGAT GTATATCATATATATATCACATATGATATATATCATATGTGATATATATC ATATATATCACATATGATATATATCATATGTGATATATATCATATATATC ACATATGATATATATCATATGTGATCATATGTGATATATATCATATATAT CACATATGATATATATCATATGTGATATATATCATATATATCACATATGA TATATATCATATGTGATATATATATATCATATATATCACATATGATATAT ATCATATGTGATATATATAGCATATATATCATATGTGATATATATCATAT ATATCACATATGATATATATCATATATATCATATGTGATATATAGCATAT ATATCATATGTGATATATAGCATATATATCATATGTGATATATAGCATAT ATATCATATATCATATATATCATATATATCATATATCATATATATCATAT ATATCATATATCATATATCATATATATCATATATATCATATATGTCATAT GTGATATATATGATATATATGATATATATGATATATATGATATATATGAT ATATATCATATATATGTGATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	2	350	0.0057	726	c.-35 others(737): Show c.-3519_-3518insTGATATATATCATATGTGATATATATCATATATA TCACATATGTGATATATATCATATGTGATATATATCATATATATCACATA TGTGATATATATCATATGTGATATATATCATATATATATCACATATGTGA TATATCATATGTGATGTATATCATATATATATCACATATGATATATATCA TATGTGATATATATCATATATATCACATATGATATATATCATATGTGATA TATATCATATATATCACATATGATATATATCATATGTGATCATATGTGAT ATATATCATATATATCACATATGATATATATCATATGTGATATATATCAT ATATATCACATATGATATATATCATATGTGATATATATATATCATATATA TCACATATGATATATATCATATGTGATATATATAGCATATATATCATATG TGATATATATCATATATATCACATATGATATATATCATATATATCATATG TGATATATAGCATATATATCATATGTGATATATAGCATATATATCATATG TGATATATAGCATATATATCATATATCATATATATCATATATATCATATA TCATATATATCATATATATCATATATCATATATCATATATATCATATATA TCATATATGTCATATGTGATATATATGATATATATGATATATATGATATA TATGATATATATGATATATATCATATATATGTGATATATATC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3415		chr10	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTATA others(720): Show GTACTATATATATTTTATATATAGTATGTACTATATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACATTGTATATACTATA TATATATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTT ATGTATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTA TGTACTATATATATTTTATACATAGTATATACACTGTATATACTATATAT ATTTTATACATAGTATATACAGTGTATATACTATATATTTTATATATAGT ATATACACTGTATATACTATATATATTTTATACATAGTATATACAGTGTA TATACTATATATTTTATATATAGTATATACACTGTATATACTATATATAT TTTATATATAGTATATACACTGTATATACTATATATATTTTATATATAGT ATATACACTGTATATACTATATATATTTTATATATAGTATATACACTGTA TATACTATATATATTTTATATATAGTATATACACTGTATATACTATATAT ATTTTATATATAGTATATACACTGTATATACTATATATATTTTATATATA GTATATACACTGTATATACTATATATATTTTATATATAGTATATACACTG TATATACTATATATATTTTATATATAGTATATACACTGTATATACTATAT ATATTTTATATATAGTATATACTGTATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	182	0.0055	727	c.505 others(746): Show c.505-41258_505-41257insTATACAGTATATACTATATATAAAAT ATATATAGTATATACAGTGTATATACTATATATAAAATATATATAGTATA TACAGTGTATATACTATATATAAAATATATATAGTATATACAGTGTATAT ACTATATATAAAATATATATAGTATATACAGTGTATATACTATATATAAA ATATATATAGTATATACAGTGTATATACTATATATAAAATATATATAGTA TATACAGTGTATATACTATATATAAAATATATATAGTATATACAGTGTAT ATACTATATATAAAATATATATAGTATATACAGTGTATATACTATATATA AAATATATATAGTATATACAGTGTATATACTATATATAAAATATATAGTA TATACACTGTATATACTATGTATAAAATATATATAGTATATACAGTGTAT ATACTATATATAAAATATATAGTATATACACTGTATATACTATGTATAAA ATATATATAGTATATACAGTGTATATACTATGTATAAAATATATATAGTA CATACTATACATAAAATATATATATAGTATATACAATGTACATACTATAC ATAAAATATATATATAGTATATACAATGTACATACTATACATAAAATATA TATATAGTATATACAATGTACATACTATATATAAAATATATATAGTACAT ACTATATATAAAATATATATAGTACATACTATATATAAAATATATATAGT A	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
AHRR_chr5_316714_443285	318053	C C	CCCCCCTC others(720): Show CCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTCTCC CCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTT TCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACC TCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCGCAC CCTGCACCTCCCCCCGCACCCTGCACCTCCCCCCTCACCCACCACCTCCC GCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCATCTTTTA CCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCC TCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCC ACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCC ACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCC TTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCC CCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCT CCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCT GCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCA CCCTCCATCTGCCCCCAACCCTGCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0180 a0003c0004t0004g0180	1	268	0.0037	727	c.-37 others(738): Show c.-3777_-3776insCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCT CCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTC ACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCC CCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTG CACCTCCCCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCCCCT CACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACC TCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTG CACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCC CCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACT TCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACC CTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTC CCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCC TCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCA CCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATC CTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3660		chr5	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(720): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAG GGGAAGGGAAGGGAAGGGAATGGGACAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGAAGGGGAAGGGGAAGGGA AGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGG AAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGA AGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAG GGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGA CGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGGG AAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0075 a0002c0004t0002g0075	1	242	0.0041	727	c.927 others(744): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTT CCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCG TCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCC CTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCT TCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTT CCCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCT TCCCTTCCCCTTCCCCTTCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTT CCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCC CTTCCTTTTCCCTTCCCCTTCCTTGTCCCATTCCCTTCCCTTCCCTTCCC CTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCC TTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCT TCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(720): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAG GGGAAGGGAAGGGAAGGGAATGGGACAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGG AAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGG GAAGGGAAAGGGAGGGGAAGGGAAGGGAAGGGGAAGGAAAAGGAAGGGGA AGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAG GGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGA CGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGGG AAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0089 a0002c0004t0002g0089	1	242	0.0041	727	c.927 others(744): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTT CCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCG TCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCC CTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCT TCCCCTTCCTTTTCCTTCCCCTTCCCTTCCCTTCCCCTCCCTTTCCCTTC CCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTT CCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTT CCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCC CTTCCTTTTCCCTTCCCCTTCCTTGTCCCATTCCCTTCCCTTCCCTTCCC CTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCC TTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCT TCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(720): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAG GGGAAGGGAAGGGAAGGGAATGGGACAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGG AAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGG GAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGG AAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAA GGGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGA CGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGGG AAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0178 a0002c0004t0002g0178	1	242	0.0041	727	c.927 others(744): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTT CCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCG TCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCTTTTCCC TTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTT CCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTC CCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTT CCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTT CCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCC CTTCCTTTTCCCTTCCCCTTCCTTGTCCCATTCCCTTCCCTTCCCTTCCC CTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCC TTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCT TCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(720): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAG GGGAAGGGAAGGGAAGGGAATGGGACAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGA AGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGG AAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGA AGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAG GGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGA CGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGGG AAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0073 a0002c0004t0002g0073	1	242	0.0041	727	c.927 others(744): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTT CCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCG TCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCC CTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCT TCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTT CCCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCT TCCCTTCCCCTTCCCCTTCCCTTTCCCTTCCCTTCCCTTTCCCTTCCCTT CCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCC CTTCCTTTTCCCTTCCCCTTCCTTGTCCCATTCCCTTCCCTTCCCTTCCC CTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCC TTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCT TCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(720): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAA GGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGG GAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGG GGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAG GAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAG GAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGA AAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGA CGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGA GGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	242	0.0041	727	c.927 others(744): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTC CTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCC CCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTC CCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCC TTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCCTTCCC TTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCTT TTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTTCCTT TTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCT TTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTT TCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(720): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAAGGGAA GGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAGGGGAA GGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAGGGGAAGGGAA GGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAAGGGAAGGG AAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGG GGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAG GAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAG GAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGA AAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGA CGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGA GGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	242	0.0041	727	c.927 others(744): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTC CTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCC CCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCC TTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCC TTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCC TTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCC TTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCT TTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTT TCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
C2CD4C_chr19_400445_414147	410823	C C	CCTGCTGG others(720): Show CCTGCTGGGAACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCG AGCCGGGAGGAGGGTCCTGGGGATCTGTCCACCGCCCCTGCTGGGCACGG ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGTCTCTGCTGGGCCCGGATCCTGGGAGTCTGTCCACCGTCCCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGATCTGT CCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCACTGC TGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCC TGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCC ACCGTCACTGCTGGGCCCGAGCCGGGAGGAGGGTCCTGGGGGTCTGTCCA CCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGG GCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGG GGGTCTGTCCACCGTCACTGCTGGGCACGGATCCTGGGGATCTGTCCACC GCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGC TCGGATCCTGGGGATCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0094 a0001c0001t0115g0094	1	322	0.0031	727	c.-18 others(738): Show c.-1859_-1858insTGACGGTGGACAGATCCCCAGGATCCGAGCCCAG CAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGATCCCCAGGATCCGTGCCCAGCAGTGACGGTGGACAGACCCCCAGGA TCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACA GACCCCCAGGACCCTCCTCCCGGCTCGGGCCCAGCAGTGACGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTG ACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGAT CCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGAC GGTGGACAGACTCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCC CCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGC CCAGCAGGGGCGGTGGACAGATCCCCAGGACCCTCCTCCCGGCTCGGGCC CAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTTCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1677		chr19	TogoVar
C2CD4C_chr19_400445_414147	411314	C C	CCGGATCC others(720): Show CCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGT CACTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGG ATCCTGGGGATCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCT GTCCACTGCCCCTGCTGGGCCCGAGCCGGGAGGAGGATCCTGGGGGTCTG TCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTG CTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATC CTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTC CACTGCCCCTGCTGGGCCCGAGCCGGGAGGAGGATCCTGGGGGTCTGTCC ACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTG GGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTG GGGGTCTGTCCACCGCCCCTGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0069 a0001c0001t0058g0069	1	322	0.0031	727	c.-23 others(738): Show c.-2350_-2349insTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCTCCTCCCGGCTCGGGCCCAGCAGGGGCAGTGGACAGA CCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCG TGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGG CGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACC CCCAGGATCCTCCTCCCGGCTCGGGCCCAGCAGGGGCAGTGGACAGACCC CCAGGATCCGGGCCCAGCAGTGACGGTGGACAGATCCCCAGGATCCGGGC CCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGG TGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCC AGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCC AGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGTGACGGTG GACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAG GATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2168		chr19	TogoVar
CAMKK2_chr12_121232692_121301709	121255330	T T	TTATATAT others(720): Show TTATATATACAATTTTATATATATATAATTATATATACAATTTTATATAT ATATAATTATATATATATAATTATATATATAATTTTATATATATATAATT ATATATATAATTTTATATATATAATTATATATATAATTTTATATATATAT AATTATATATATAATTTTATATATATATAATTTTATATATAATTATATAT ATAATTTTATATATAATTATATATATAATTTTATATATAATTATATATAT AATTTTATATATAATTATATATATAATTTTATATATAATTATATATATAA TTTTATATATAATTATATATATAATTTTATATATAATTATATATATAATT TTATATATAATTATATATATAATTTTATATATAATTATATATATAATTTT ATATATATATAATTATATATATTATATAATTTTATATATATAATTATATA TATTATATAATTATATATATAATTTTATATATATATAATTATATATACAA TTTTATAATATATATAATTATATATACAATTATATATATATATAATTATA TATATATAATTGTATATATAATTTTATATATATAATTATATATAATTTTA TATATATATAATTATATATATAATTATATATATATAATTATATATATTTA TATATATATATAATTATATATATAATTTTATATATATAATTTTATATAAT TTTATATATAATTATATATATAATTTTA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01978.hp2 HG01496.hp2 HG01978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0022 a0003c0003t0018 a0003c0003t0022	a0003c0003t0018g0303 a0003c0003t0022g0035 a0003c0003t0018g0303 a0003c0003t0022g0035	2	330	0.0061	727	c.907 others(742): Show c.907+219_907+220insTAAAATTATATATATAATTATATATAAAAT TATATAAAATTATATATATAAAATTATATATATAATTATATATATATATA AATATATATAATTATATATATATAATTATATATATAATTATATATATATA AAATTATATATAATTATATATATAAAATTATATATACAATTATATATATA TAATTATATATATATATAATTGTATATATAATTATATATATTATAAAATT GTATATATAATTATATATATATAAAATTATATATATAATTATATAATATA TATAATTATATATATAAAATTATATAATATATATAATTATATATATATAA AATTATATATATAATTATATATAAAATTATATATATAATTATATATAAAA TTATATATATAATTATATATAAAATTATATATATAATTATATATAAAATT ATATATATAATTATATATAAAATTATATATATAATTATATATAAAATTAT ATATATAATTATATATAAAATTATATATATAATTATATATAAAATTATAT ATATAATTATATATAAAATTATATATATATAAAATTATATATATAATTAT ATATATATAAAATTATATATATAATTATATATATAAAATTATATATATAA TTATATATATATAAAATTATATATATAATTATATATATATAATTATATAT ATATAAAATTGTATATATAATTATATATATATAAAATTGTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(720): Show ACACACACACATACAGACACAACCACACCACACACACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACAGACACAA CCACACCACACACACACACACACATACAGACACAACCACACCACACACAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACACACACTCACA TACAGACACAACCACACCACACTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACATACACACTCACATACAGACACAACCACACCACACACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCACACACACACACACT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0353 a0003c0003t0002g0353	1	460	0.0022	727	c.193 others(744): Show c.1938+733_1938+734insCACACATACAGACACAACCACACCACAC ACACACACACACATACACACTCACATACAGACACAACCACACCACACACA CACATACACACTCACATACAGACACAACCACACCACACACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACACATACACA CTCACATACAGACACAACCACACCACACACACACACACACATACAGACAC AACCACACCACACACACACACACATACACACTCACATACAGACACAACCA CACCACACTCACACACACACACTCACATACAGACACAACCACACCACACT CACACACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACACACACACATACACACTCACATACAGACAC AACCACACCACACACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACACACACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(720): Show ACACACACATACAGACACAACCACACCACACACACACACACACATACACA CTCACATACAGACACAACCACACCACACACACACATACACACTCACATAC AGACACAACCACACCACACACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACACATACACACTCACATACAGACACAACC ACACCACACACACACACACACATACAGACACAACCACACCACACACACAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACACACACTCACA TACAGACACAACCACACCACACTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACATACACACTCACATACAGACACAACCACACCACACACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCACACACACACACACT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0368 a0003c0003t0003g0368	1	460	0.0022	727	c.193 others(744): Show c.1938+733_1938+734insCACATACAGACACAACCACACCACACAC ACACACACACATACACACTCACATACAGACACAACCACACCACACACACA CATACACACTCACATACAGACACAACCACACCACACACACACACATACAC ACTCACATACAGACACAACCACACCACACTCACACACACACATACACACT CACATACAGACACAACCACACCACACACACACACACACATACAGACACAA CCACACCACACACACACACACACATACACACTCACATACAGACACAACCA CACCACACTCACACACACACACTCACATACAGACACAACCACACCACACT CACACACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACACACACACATACACACTCACATACAGACAC AACCACACCACACACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACACACACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
DHRS3_chr1_12562910_12623210	12565675	C C	CTCCTGGC others(720): Show CTCCTGGCCTGCAGGCCAAATGCAATTTCATGGAAACCTCAGGAGTCAAA TCCTCTCCAAAAGGCTGGGCTGGGGCCACACCATGAAGACACAAGTCTGT CTGCAGCTCAAGGATGGTCAGAAAAATCGGGACTAAGACAAGACCCCCAC TTCATCCTCCTCGTTTATCCCTGCCCACTGAGACGTGCTCATCCCCAGTC TGTTTCCTGGGAGAGCCAGTGAGAGGCATCTGCCCTGTGGGCTCACTTGT GTCTAGACACACTAAGGGTCGGGCGATAGATGGGTGTGGACATTCCAGGA GGACGTCTTTAGCAACGCCCCATACTTTGGTAACATGTCCTCAAGGACCA AAAAGGAGACGGGTCCTTGAGGACCCATCTTGGGGCCTCGTCGTTTGCTG TCACCTGGTACTGTAGTCAGCAAGGGGACTTGGGGGTCAGGCAGAGCTGG TTCTAGATCCCTTGAGCCCAGGAGTTCCAGGCTGCAGTGAGCTATGATTG TGCCACTGCACTCCAGCCTGGACAACAGAGAAACACCCTGTCCCTCTAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATACCTGTCTCCAGTGCTCACAA GCCTATTAACCTGGGCAAGGGTTTCCCCTGATGAGTGTCTTGTCACTTAT GAAATGGGCTTCATAATACCACTTTTCAAAAGGTTAGTGTGGGCCGGGTG CAGTGGCTCACACCTGTAATCCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0287 a0001c0001t0014g0287	1	376	0.0027	727	c.26 others(738): Show c.2664_*2665insAAGCTGGGATTACAGGTGTGAGCCACTGCACCCG GCCCACACTAACCTTTTGAAAAGTGGTATTATGAAGCCCATTTCATAAGT GACAAGACACTCATCAGGGGAAACCCTTGCCCAGGTTAATAGGCTTGTGA GCACTGGAGACAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGA GGGACAGGGTGTTTCTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCA TAGCTCACTGCAGCCTGGAACTCCTGGGCTCAAGGGATCTAGAACCAGCT CTGCCTGACCCCCAAGTCCCCTTGCTGACTACAGTACCAGGTGACAGCAA ACGACGAGGCCCCAAGATGGGTCCTCAAGGACCCGTCTCCTTTTTGGTCC TTGAGGACATGTTACCAAAGTATGGGGCGTTGCTAAAGACGTCCTCCTGG AATGTCCACACCCATCTATCGCCCGACCCTTAGTGTGTCTAGACACAAGT GAGCCCACAGGGCAGATGCCTCTCACTGGCTCTCCCAGGAAACAGACTGG GGATGAGCACGTCTCAGTGGGCAGGGATAAACGAGGAGGATGAAGTGGGG GTCTTGTCTTAGTCCCGATTTTTCTGACCATCCTTGAGCTGCAGACAGAC TTGTGTCTTCATGGTGTGGCCCCAGCCCAGCCTTTTGGAGAGGATTTGAC TCCTGAGGTTTCCATGAAATTGCATTTGGCCTGCAGGCCAGGA	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding		2234		chr1	TogoVar
DIP2C_chr10_269201_694668	322731	C C	CTGTTAGA others(720): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAGAG ACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCA GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGG GCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGG GTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGG TGCGGGGCTCCAGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGT GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGG GGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGG GGGTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGG GGTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGG GTGCGGGGGTCCGGTGAGAGACCAGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0035 a0001c0013t0002g0035	1	88	0.0114	727	c.392 others(746): Show c.3924+4274_3924+4275insACACTGGTCTCTCACCGGACCCCCGC ACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCA CCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCAC CCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGC CCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGC CCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCC CCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCC CGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCC GCACCCCCGACTGACTGTTCTAACAACGCCGGTCTCTCGCTGGAGCCCCG CACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGC ACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGA GCCCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCT CGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTC GCTGGAGCCCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCG GTCTCTCGCTGGAGCCCCGCACCCCCGCACCCCCGACTGACTGTTCTAAC A	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(720): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGAGGACGAGGGAGGAGGGAGGAGGAGGAGGGGGAGGAGGAGGGA GGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGA GGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGA GGGAGGAGGAGGAGGAAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAG GGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAAGGAGG AGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGAAGG AGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAG GAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGG GGAGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAG GAGGAGGAGGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0107 a0107	a0107c0082 a0107c0082	a0107c0082t0002 a0107c0082t0002	a0107c0082t0002g0038 a0107c0082t0002g0038	1	252	0.0040	727	c.118 others(746): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCCTCCT CCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTC CTCCTTCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCC CTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTC CCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTTCCTCCTCCTCCTC CCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCT CCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCT CCTCCCTCCTCCTCCCCCTCCTCCTCCTCCCTCCTCCCTCGTCCTCCTCC TCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTC C	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
FMR1NB_chrX_147976337_148031665	147992518	C C	CACCCCCA others(720): Show CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CTGCACGGCTGGCCGGGCGGGGGGGCTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 NA18960.hp1 HG00408.hp1 HG00544.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0088	3	275	0.0109	727	c.278 others(746): Show c.278-10683_278-10682insACCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACG GGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACTGCACGGCTGGCCGGGCGGGGGGGCT G	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5			chrX	TogoVar
FRMD6_chr14_51646910_51735727	51669172	T T	TATCTGGC others(720): Show TATCTGGCCATGTTTCACTTTTTTTTTTTTTTTGGTTGTTTAGTGGTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTGATCATTCTTGGGTGT TTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAG GTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGG ACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGATTAGGG AGTGGTGATGACTCTCAACGAGCATGCTGCCCTCAAGCATCTGTTCAACA AAGCACATCTTGCACCGCCCTTAATCCATCTAACCCTGAGTGGACACAGC ACATGTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGA TCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCC CATGTCTACTTCTATCCACACAGACCCAGCAACCATCCGATTTCTCAATT TTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATC ATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGT GCCCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCGCCCTCCCGGACGGGGCGGCTGG	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18994.hp2 HG02083.hp2 NA18994.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0185 a0001c0004t0005g0187 a0001c0004t0005g0185 a0001c0004t0005g0187	2	390	0.0051	727	c.-14 others(748): Show c.-147+17196_-147+17197insTTTTTTTTTTTTGGTTGTTTAGTG GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTGATCATTCTTG GGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAG GGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGC AGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGAT TAGGGAGTGGTGATGACTCTCAACGAGCATGCTGCCCTCAAGCATCTGTT CAACAAAGCACATCTTGCACCGCCCTTAATCCATCTAACCCTGAGTGGAC ACAGCACATGTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAA CAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAG TCTCCCATGTCTACTTCTATCCACACAGACCCAGCAACCATCCGATTTCT CAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTG TCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGG TCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCA GAAGTGCCCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGATCTGGCCATGTTTCAC TTT	FRMD6	ENSG00000139926.16	transcript	ENST00000344768.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(720): Show TCCCCTTTCCCCCCTCTCCTCCCTCCCCTCTCTCCCCCTCTCCCTCCCCT TTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCT TCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCTCCCCTCA CCCCCCTCCCTCCCCTCTCTTCCTCTCCCCCTCTCTCCCTCCCTCTCCCT CCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTCCCTCTTTCT CCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCTC CTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTT CTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTC CCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCT CTCCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCT CCCCCTGCCCTCTCTCCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCC TCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTC TCCCCCCCCTTTCCCTCCCTCTCCCTCTCTCCCTCTCCCCCCTCCCCCCT CTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCC CACCCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0207 a0001c0002t0004g0207	1	230	0.0044	727	c.126 others(744): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGAGGGAGAGGGAGGGAAAGGGGGGGGA GAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGA GGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAGAGGGCAGGGGG AGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAG AGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGG GAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAG AAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAG GAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGG AGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGG AGGGAGAGGGAGGGAGAGAGGGGGAGAGGAAGAGAGGGGAGGGAGGGGGG TGAGGGGAGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGA AGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAA AGGGGAGGGAGAGGGGGAGAGAGGGGAGGGAGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GTPBP6_chrX_299759_323796	323553	T T	TGTGTGTG others(720): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTC CTGGGTTCCGTCTGCCCTGTTCATAGAGACAGAATGAGGGCGTCCCCAGG TGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAAT CTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGACAGAATGAGGGCG TCCCCAGGTGGTGAGCTCAGGGACGTTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTC TGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAG GGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCC GTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGA ATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCT GCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGG GACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAA TCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAG GGCGTCCCCAGGTGGTGAGCTCAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0024 a0005c0010t0001g0024	1	155	0.0065	727	c.-47 others(738): Show c.-4767_-4766insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACG GCTACACACACACACACACACACACACACACACACACACACGTCCCTGAG CTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGG AACCCAGGAGCCCAGGAGACTGACGGCTACACACACACACACACACACAC ACACACACAACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATC TCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTAC ACACACACACACACACACACACACACACACACACACACACGTCCCTGAGC TCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGA ACCCAGGAGCCCAGGAGATTGACGGCTACACACACACACACACACACACA CACACACACACACACACAACGTCCCTGAGCTCACCACCTGGGGACGCCCT CATTCTGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGATTGAC GGCTACACACACACACACACACACACACGTCCCTGAGCTCACCACCTGGG GACGCCCTCATTCTGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCC AGGAGATTGACGGCTACACACACACACACACACACACACACAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4758		chrX	TogoVar
HNF4A_chr20_44350699_44437845	44404776	T T	TGTGTTTG others(720): Show TGTGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGT TCATGTTCGGACTGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGAC TGTGTGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGG TGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCATGTGTGTGGA CTGTGTGGTGTGGGTGTGTGCGTGTGTGTGTGACCATGTGGAGTGTGTCT GTGTGCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTG TGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACT CTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGT GTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTG GACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGTGCT TGTGTGTGGACTGTGTGTGTGTGGACTGTGGTGTGTGTGCGTGACTGTGG TGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGTGGATTGTGTG GTGTGTGGACTGTGGGTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGTGTG TGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACT GTGGATTGTGTGGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	322	0.0031	727	c.50- others(742): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTTCATGTTCGGACTGTGTGTGTGTATGTAAGTGTGT GTGCGTGTGTGTGACTGTGTGTGCCTGTGTGGACTGCTGTGTGTGCGTGG ACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGT GTGCATGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGTGACC ATGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGTGGTGCGTGTGTGCT TATGTTTGGCGTGTGTGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGT GCGTGTGTGTGGACTCTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGT GTGTGACTGTGTGGTGTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGT GTGTGTGCATGTGTGGACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTG TAGTGTGTGTGTGCTTGTGTGTGGACTGTGTGTGTGTGGACTGTGGTGTG TGTGCGTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATG TGTGTGGATTGTGTGGTGTGTGGACTGTGGGTGTGTGGTGCGTGTGTGTG CTTGTGTGTGGTGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGT GCTTGTGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCACGTGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(720): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT TGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	376	0.0027	727	c.666 others(744): Show c.666-4737_666-4736insTCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCA ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCC ATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(720): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCT CTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCC CTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCC ACAGAACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0083 a0001c0007t0001g0083	1	282	0.0036	727	c.258 others(744): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAG AACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTC CCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGA GCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCC TCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAG AACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTC TCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(720): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCC CTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCC ACAGAACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0011 a0011	a0011c0055 a0011c0055	a0011c0055t0018 a0011c0055t0018	a0011c0055t0018g0271 a0011c0055t0018g0271	1	282	0.0036	727	c.258 others(744): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCC TCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCC TCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAG AACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTC TCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
LMF1_chr16_848634_975984	857729	C C	CAGTGGTG others(720): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCA CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGG GACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGACGGGTG TGCAGTGGTGTCTCGGGACGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0006 a0003c0032t0001g0006	1	294	0.0034	727	c.153 others(746): Show c.1530-3024_1530-3023insTGCACACCCGTCCCGAGACACCACTG CACACCCGTCCCGTGACACCACGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCG TCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCC CGTGACACCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGT GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCAC T	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(720): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATACATAA ATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAATAT ATAAATATATATTTTGTAAATATATATATATTTTGTAAATATATATATAT TTTGTAAATATATATTGTAAATATATATAAATATATATTTTGTGAATTAT ATATATATTGTAAATTATATATATATTTTGTAAATATATATAGTAAATAT ATATATTTTGTAAATATGTATATATATTTTGTAAATATATATATTTTGTA AATATGTATATATATTTTGTAAATATATACATTTTGTAAATATATAAATA TATACATTTTGTAAATATATAAAAATATATACATTTTGTAAATATATAAA AATATATGTTGTAAATATATAAAAATATATATATTTTGTAAATATATAAA TATATATATTTTGTAAATATATATATATTTTGTAAATATATATAAATATA TACATATTTTGTAAATATATAAATATATACATATTTTGTAAATCTATATA AATATATACATATTTTGTAAATCTATATAAATATATACATATTTTGTAAA TCTATATAAATATATACATATTTTGTAAATCTATATAAATATATACATAT TTTGTAAATCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01123.hp2 others(4): Show HG00735.hp1 HG00735.hp2 HG01123.hp2 HG01192.hp2 HG01978.hp1 NA18952.hp2 NA19078.hp2	a0002 a0007 a0014 others(1): Show a0002 a0007 a0014 a0042	a0002c0002 a0007c0007 a0014c0044 others(1): Show a0002c0002 a0007c0007 a0014c0044 a0042c0050	a0002c0002t0002 a0002c0002t0009 a0007c0007t0002 others(2): Show a0002c0002t0002 a0002c0002t0009 a0007c0007t0002 a0014c0044t0003 a0042c0050t0002	a0002c0002t0002g0061 a0002c0002t0009g0042 a0007c0007t0002g0063 others(4): Show a0002c0002t0002g0061 a0002c0002t0009g0042 a0007c0007t0002g0063 a0007c0007t0002g0093 a0007c0007t0002g0114 a0014c0044t0003g0062 a0042c0050t0002g0124	7	330	0.0212	727	c.197 others(746): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA GATTTACAAAATATGTATATATTTATATAGATTTACAAAATATGTATATA TTTATATAGATTTACAAAATATGTATATATTTATATATTTACAAAATATG TATATATTTATATATATTTACAAAATATATATATATTTACAAAATATATA TATTTATATATTTACAAAATATATATATTTTTATATATTTACAACATATA TTTTTATATATTTACAAAATGTATATATTTTTATATATTTACAAAATGTA TATATTTATATATTTACAAAATGTATATATTTACAAAATATATATACATA TTTACAAAATATATATATTTACAAAATATATATACATATTTACAAAATAT ATATATTTACTATATATATTTACAAAATATATATATAATTTACAATATAT ATATAATTCACAAAATATATATTTATATATATTTACAATATATATTTACA AAATATATATATATTTACAAAATATATATATATTTACAAAATATATATTT ATATATTTACAAAACATATATATATTTATATATATTTACAAAACATATAT ATTTATGTATATTTACAAAACATATATATTTATATATATTTACAAAACAT ATATTTATATATATTTACAAAACATATATATATTTATATATATTTACAAA A	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(720): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCCTCCTC CCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCC CCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCACCCTCCCCT TCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCCTTCCCCTCCCCCTTC CCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCC CCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGC CCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTC CCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGC TTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCT CCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTC TCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0133 a0001c0010t0003g0133	1	278	0.0036	727	c.115 others(744): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCCTC CTCCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCACCCTCC CCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCCTTCCCCTCCCCC TTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCT CCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCC CGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCC CTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTC CGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTC CCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTC CTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(720): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCCTCCTC CCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCC CCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCACCCTCCCCT TCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCC CCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCC CCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGC CCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTC CCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGC TTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCT CCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTC TCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0111 a0002c0015t0003g0111	1	278	0.0036	727	c.115 others(744): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCCTC CTCCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCACCCTCC CCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCT TCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTC CCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCC CGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCC CTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTC CGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTC CCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTC CTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MROH7_chr1_54636786_54715266	54658614	T T	TGAAAATT others(720): Show TGAAAATTTATACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGC TCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGG CGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTG TAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAA AATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCT GTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAAG GCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCG TTAAGAGTCATCACCAATCCCTAATCTCAAGCAATCAGGGACACAAACAC TGCAGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTC ACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCA AATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATT AAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0033 a0033	a0033c0067 a0033c0067	a0033c0067t0003 a0033c0067t0003	a0033c0067t0003g0368 a0033c0067t0003g0368	1	380	0.0026	727	c.123 others(746): Show c.1231+4468_1231+4469insCTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGT GTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGT GGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTT GCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTC TGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTT ACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTA AATGGATTAAAGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAG GCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGCAATCAG GGACACAAACACTGCAGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAG AGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCC ATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATA AAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTTAT A	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(720): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTC CTACCCCGGCCCCGGCTCTCACCTCCTACCCGGCCCCGGCTCTCACCCCC TACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0186 a0002c0003t0001g0186	1	394	0.0025	727	c.-8+ others(740): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGG GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(720): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTAC CCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCC GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0082 a0002c0003t0001g0082	1	394	0.0025	727	c.-8+ others(740): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(720): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATA AATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAATATAT AATTTATATAATTTATAAATTATATAATTTATATATTATATATAATATGT TTATATTAAATATTATATATTATATATTATATATTATATATTTATATTAA ATATTATATATTTATATATTATATATAATATATTTATATTAAATATTATA TATTTATATATTATATATATTTATATTAAATATTATATATTTATATATTA TTTATATTTATATTAAATATTATATATTTATATATTATATATATTTATAT TAAATATTATATATTTATATATTATATATATTTATATTAAATATTATATA TTTATATATTATATATATTTATATTAAATATTATATATTTATATATTATA TATATTTATATTAAATATTATATATTTATATATTATATATAATATATTTA TATTGAATATTATATATTTATATATTATATATAATATATTTATATTGAAT ATTATATATTTATATATTATATATAATATATTTATATTGAATATTATATA TTTATATATTATATAAATATTATATATG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03540.hp2 HG06807.hp1 others(1): Show HG01074.hp2 HG03540.hp2 HG06807.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0008 a0001c0004 a0002c0008	a0001c0004t0007 a0002c0008t0001 a0001c0004t0007 a0002c0008t0001	a0001c0004t0007g0086 a0001c0004t0007g0093 a0002c0008t0001g0032 others(1): Show a0001c0004t0007g0086 a0001c0004t0007g0093 a0002c0008t0001g0032 a0002c0008t0001g0061	4	170	0.0235	727	c.166 others(746): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATATATTTATATATAAATATTTATATTTTATATATTTATATATTT TATGATTTTATAAAATATATAATTTATATAATTTATAAATTATATAATTT ATATATTATATATAATATGTTTATATTAAATATTATATATTATATATTAT ATATTATATATTTATATTAAATATTATATATTTATATATTATATATAATA TATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAAA TATTATATATTTATATATTATTTATATTTATATTAAATATTATATATTTA TATATTATATATATTTATATTAAATATTATATATTTATATATTATATATA TTTATATTAAATATTATATATTTATATATTATATATATTTATATTAAATA TTATATATTTATATATTATATATATTTATATTAAATATTATATATTTATA TATTATATATAATATATTTATATTGAATATTATATATTTATATATTATAT ATAATATATTTATATTGAATATTATATATTTATATATTATATATAATATA TTTATATTGAATATTATATATTTATATATTATATAAATATTATATATGTA T	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(720): Show TGTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCCCCTCCCC TTCCCCTCCCCTCCCCCTTCCCCCTCCCCTCCCCTCCCCCTTCCCCTCCC CTCCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCCTTCCCTCTCCCCTT CCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCC CTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0288 a0001c0001t0005g0288	1	326	0.0031	727	c.433 others(744): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGGAGGGGGAGGGGAGGGGAAGGGGGAGGGGGAG GGGAGGGGAAGGGGGAGGGGAGGGGAGGGGGAAGGGGGAGGGGAGGGGAA GGGGAGGGGGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(720): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	400	0.0025	727	c.70 others(738): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(720): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATG TATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	727	c.70 others(738): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDCD6_chr5_266646_319974	318053	C C	CCCCCCTC others(720): Show CCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTCTCC CCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTT TCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACC TCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCGCAC CCTGCACCTCCCCCCGCACCCTGCACCTCCCCCCTCACCCACCACCTCCC GCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCATCTTTTA CCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCC TCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCC ACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCC ACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCC TTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCC CCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCT CCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCT GCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCA CCCTCCATCTGCCCCCAACCCTGCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	360	0.0028	727	c.35 others(738): Show c.3538_*3539insCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCT CCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTC ACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCC CCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTG CACCTCCCCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCCCCT CACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACC TCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTG CACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCC CCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACT TCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACC CTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTC CCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCC TCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCA CCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATC CTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3080		chr5	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(720): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTAC CCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCC GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	376	0.0027	727	c.15 others(738): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
ROBO2_chr3_77035099_77654964	77322933	T T	TATAATAT others(720): Show TATAATATATTATATTATATTATGGATAATATAATATATTATATTATATT ATGGATAATATAATATATTATATTATATTATGGATAATATAATATAATAT ATTATATTATGGATAATATAATATATTATATTATATTATGGATAATCTAA TATATTATATTATATTATGGATAATCTAATATATTATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAGTATATTATGGATAATATAATATATTATATTATGGAT AATATAATATATTATATAATATATTATATTATGGATAATATAATATATTA TATAATATATTATATTATGGATAATATAATATATTATATAATATATTATA TTATGGATAATATAATATATTATATAATATATTATATTATGGATAATATA ATATATTATATATTATATTATATTATGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0085 a0001c0002t0017g0085	1	160	0.0063	727	c.389 others(748): Show c.389-154386_389-154385insATATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATCTAATATATTATATTATATTATGG ATAATCTAATATATTATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATAGTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATAAT ATATTATATTATGGATAATATAATATATTATATAATATATTATATTATGG ATAATATAATATATTATATAATATATTATATTATGGATAATATAATATAT TATATAATATATTATATTATGGATAATATAATATATTATATATTATATTA TATTATGGATAATATATTATATTATATTATGGATAATATAATATATTATA TTATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
SARDH_chr9_133658560_133743352	133669252	C C	CCCCTCAC others(720): Show CCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCC CCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCT CTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCT CACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTA CCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACC CTCCATCTCCCTCACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCT CCCTCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCC CTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCT CTCCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTC TCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCC CTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCT CACCCTCCCTCTCCCTTACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0175 a0001c0007t0001g0175	1	262	0.0038	727	c.249 others(746): Show c.2495+1331_2495+1332insAGAGGGAGGGTAAGGGAGAGGGAGGG TGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTG AGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAG GGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGG GAGAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGG AGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAG AGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAG GGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGAG GGAGGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAGGGTGAGGGAGATGG AGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAG GGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGG TGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAG AGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGA GGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAG AGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGG G	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(720): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	324	0.0031	727	c.115 others(744): Show c.115-2573_115-2572insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(720): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATAATATATATATTATATATAA TATATATAATATATATATTATATATATTATATATATTATATATAATATAA ATATATTATATATAATATATATAATATATATATATTATATATAATATATA TAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATATAATATAAATATA TTATATATATTATATATAATATAAATATATTATATATATTATATATAATA TAAATATATTATATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATATAATATAAATATATTATATATATTATATATA ATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	346	0.0029	727	c.-70 others(744): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATAAT ATATATAATATATTTATATTATATATAATATATATAATATATTTATATTA TATATATTATATATAATATATATATATTATATATATTATATATAATATAT TTATATTATATATAATATATATAATATATATAATATATATATTATATATA TTATATATAATATATATATTATATATATTATATATAATATATTTATATTA TATATTATATATAATATATTTATATTATATATTATATATAATATATTTAT ATTTATATAATATATAATATATTTATATTTATATATAATATATATAATAT ATTTATATTTATGTATAATATATATAATATATTTATATTTATGTATAATA TATATAATATATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(720): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATAATATATATATTATATATAT TATATATAATATATATATTATATATATTATATATAATATATATAATATAA ATATATTATATATAATATATATAATATAAATATATTATATATATTATATA TAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATATAATATAAATATA TTATATATATTATATATAATATAAATATATTATATATATTATATATAATA TAAATATATTATATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATATAATATAAATATATTATATATATTATATATA ATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	346	0.0029	727	c.-70 others(744): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATAAT ATATATAATATATTTATATTATATATAATATATATAATATATTTATATTA TATATAATATATATAATATATTTATATTATATATATTATATATAATATAT TTATATTATATATATTATATATAATATATATAATATATATATTATATATA ATATATATAATATATATATTATATATATTATATATAATATATTTATATTA TATATTATATATAATATATTTATATTATATATTATATATAATATATTTAT ATTTATATAATATATAATATATTTATATTTATATATAATATATATAATAT ATTTATATTTATGTATAATATATATAATATATTTATATTTATGTATAATA TATATAATATATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(720): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCA GGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGA GAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGGGGGAGGCAGG GAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGA GGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGA GAGGGAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTA GGGAGGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03098.hp2 NA18522.hp2 HG01934.hp2 HG03098.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0055 a0001c0004 a0003c0055	a0001c0004t0006 a0001c0004t0010 a0003c0055t0010 a0001c0004t0006 a0001c0004t0010 a0003c0055t0010	a0001c0004t0006g0060 a0001c0004t0010g0131 a0003c0055t0010g0115 a0001c0004t0006g0060 a0001c0004t0010g0131 a0003c0055t0010g0115	3	132	0.0227	727	c.227 others(746): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTGCCTCCCCCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCC TCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTC CCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCACCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCTCCCTC CCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTC CCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCGCTCCCTCCCTGCCTC CCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCTCTCCCTGCCTCCC T	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(720): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGA GGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAG GGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAG GGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGG GGGAGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGG AAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGG AGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	727	c.12 others(738): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCT TCCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCC TCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGC CTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCC TCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCC TCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCC TCCCCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCC CCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCC CCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTT CCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCC TCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGC CCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCT CCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCC TTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(720): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAATATAT ATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATA AAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	302	0.0033	727	c.12+ others(742): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAATATATATTATAGTTTATATAATATATAAAATATATT ATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATAAAA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(720): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAATATATATTATAGTTTATATAATATATAAAATATA TTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATAA AATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	302	0.0033	727	c.12+ others(742): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAATATATATTATAGTTT ATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTA TAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(720): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATGTTATAGTTTATATAATATATAAACATATGTTATAGT TTATATAATATATAAACATATGTTATGGTTTATATAATATATAAACATAT GTTATGGTTTATATAATATATAAACATATGTTATGGTTTATATAATATAT AAAATATATTATGGTTTATATAATATATAAAATATATTATGGTTTATATA ATATATAAAATATATTATGGTTTATATAATATATACACATATATTATGGT TTATATAATATATACACATATATTATGGTTTATATAATATATACACATAT ATTATGGTTTATATAATATATACACATATATTATGGTTTATATAATATAT ACACATATATTATGGTTTATATAATATATACACATATATTATGGTTTATA TAATATATACACATATATTATGGTTTATATAATATATACACATATATTAT GGTTTATATAATATATACACATATATTATGGTTTATATAATATATACACA TATATTATGGTTTATATAATATATACACATATATTATGGTTTATATAATA TATACACATATATTATGGTTTATATAATATATACACATATATTATGGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	302	0.0033	727	c.12+ others(742): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATGTTATAGTTTATATAATA TATAAACATATGTTATAGTTTATATAATATATAAACATATGTTATGGTTT ATATAATATATAAACATATGTTATGGTTTATATAATATATAAACATATGT TATGGTTTATATAATATATAAAATATATTATGGTTTATATAATATATAAA ATATATTATGGTTTATATAATATATAAAATATATTATGGTTTATATAATA TATACACATATATTATGGTTTATATAATATATACACATATATTATGGTTT ATATAATATATACACATATATTATGGTTTATATAATATATACACATATAT TATGGTTTATATAATATATACACATATATTATGGTTTATATAATATATAC ACATATATTATGGTTTATATAATATATACACATATATTATGGTTTATATA ATATATACACATATATTATGGTTTATATAATATATACACATATATTATGG TTTATATAATATATACACATATATTATGGTTTATATAATATATACACATA TATTATGGTTTATATAATATATACACATATATTATGGTTTATATAATATA TACACATATATTATGGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
TECTA_chr11_121096243_121196490	121185956	G G	GAATGAGT others(720): Show GAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAAT GAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGTAGGGAA AGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTA GGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02738.hp2 HG03490.hp1 others(4): Show HG01361.hp1 HG02738.hp2 HG03490.hp1 HG03492.hp1 NA18612.hp1 NA18941.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0001 a0001c0005 a0002c0001	a0001c0005t0001 a0002c0001t0001 a0001c0005t0001 a0002c0001t0001	a0001c0005t0001g0108 a0001c0005t0001g0326 a0002c0001t0001g0004 others(3): Show a0001c0005t0001g0108 a0001c0005t0001g0326 a0002c0001t0001g0004 a0002c0001t0001g0228 a0002c0001t0001g0231 a0002c0001t0001g0249	7	348	0.0201	727	c.600 others(746): Show c.6000-1853_6000-1852insCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAAT GAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGTAGGGAA AGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTA GGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGT T	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 8931 hits)