Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01192.hp1 HG01433.hp1 others(2): Show HG00673.hp1 HG01192.hp1 HG01433.hp1 HG02257.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0203 others(2): Show a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0203 a0001c0003t0001g0050 a0001c0005t0001g0027	5	352	0.0142	419	c.51 others(430): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCC CCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCC CTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCC TCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGGAGGGGGA GGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	352	0.0028	419	c.51 others(430): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCC TCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(412): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATACT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATAGTATATATATTCTGTATACAGAATATATAGTATATATATT CTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATATAT ACTATATATATTCTATATACAGAATATATATAGTATATATATTCTATATA TAGAATATATATATAGTATATATATTCTGTATATAGAATATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAA TATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	236	0.0042	419	c.409 others(438): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATACTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTAT ATAGAATATATATACTATATATATTCTGTATATAGAATATATATAGTATA TATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAAT ATATATACTATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(412): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATATAT ACTATATATATTCTATATACAGAATATATATAGTATATATATTCTATATA TAGAATATATATATAGTATATATATTCTGTATATAGAATATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAA TATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	236	0.0042	419	c.409 others(438): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATACTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATATAGAATATATATACTATATATTCTGTATACAGAATATATA TACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTAT ATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTATA TATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAAT ATATATACTATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(412): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATATAT AGTATATATATTCTGTATACAGAATATATATACTATATATATTCTATATA CAGAATATATATAGTATATATATTCTATATATAGAATATATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAA TATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp2 HG02976.hp2 others(1): Show HG02559.hp2 HG02970.hp2 HG02976.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0002g0088	4	236	0.0170	419	c.409 others(438): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATATTCTATATATAGAATATATATACTATATATATTCTGTATATA GAATATATATAGTATATATATTCTGTATACAGAATATATATACTATATAT ATTCTGTATATAGAATATATATACTATATATTCTGTATACAGAATATATA TACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTAT ATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTATA TATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAAT ATATATACTATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(412): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTGTATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATATAT AGTATATATATTCTATATACAGAATATATATAGTATATATATTCTATATA TAGAATATATATATAGTATATATATTCTGTATATAGAATATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAA TATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	236	0.0042	419	c.409 others(438): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATACTATATATATTCTGTATATAGAATATATATACTATATAT ATTCTGTATATAGAATATATATACTATATATTCTGTATACAGAATATATA TACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTAT ATAGAATATATATAGTATATATATTCTGTATACAGAATATATATACTATA TATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAAT ATATATACTATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AKR1C2_chr10_4982775_5008857	4997071	T T	TAGCTTAA others(412): Show TAGCTTAACCAAGTTTTTTTTTTTTTATTATACTTTAAGTTCGAGGGTAC ATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGTTGG TACGCTGCACCTACTAACTCGTCATCTAGCATTAGGTATATCTCCCAGTG CTATCCCTCCCCCCTCCCCCCACCCCACAACAGTCCCCAGAGTGTGATAT TCCCCTTCCTGTATCCATGTGATCTCATTGTTCAATTCCCACCTATGAGT GAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGACAAT GATGATTTCCAGTTTCATCCATGTCCCTACAAAGGATATGAACTCATCAT TTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTA ATCCAGTCTATCATTGTTGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	412	0.0024	419	c.571 others(436): Show c.571-1207_571-1206insCCAACAATGATAGACTGGATTAAGAAAA TGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAG TTCATATCCTTTGTAGGGACATGGATGAAACTGGAAATCATCATTGTCAG TAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAG GTGGGAATTGAACAATGAGATCACATGGATACAGGAAGGGGAATATCACA CTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCACTGGGA GATATACCTAATGCTAGATGACGAGTTAGTAGGTGCAGCGTACCAACATG GCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTC GAACTTAAAGTATAATAAAAAAAAAAAAACTTGGTTAAGCT	AKR1C2	ENSG00000151632.18	transcript	ENST00000380753.9	protein_coding	5/8			chr10	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(412): Show TCCCCGCACCCCAGCTGTCCCCCCGCACCCCACCTGTTTACCCTGCACCC CAGCTGTCCCCCGCGCCGCAGCTGTCCCCCCCACACCCCACCTATTCCCC CGCACCCCGCCTGTCCCCCCGCACCCTACCTGTTTATTCTGCACCCCACC TGTCCCCTCGCACCCCACCTGTCCCCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCTCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0125 a0002c0125	a0002c0125t0064 a0002c0125t0064	a0002c0125t0064g0310 a0002c0125t0064g0310	1	363	0.0028	419	c.-48 others(434): Show c.-48+851_-48+852insGCTGTCCCCCCGCACCCCACCTGTTTACCC TGCACCCCAGCTGTCCCCCGCGCCGCAGCTGTCCCCCCCACACCCCACCT ATTCCCCCGCACCCCGCCTGTCCCCCCGCACCCTACCTGTTTATTCTGCA CCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825105	C C	CCCCCCGC others(412): Show CCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCC CACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCT CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCA CACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTG TTCACCCGCACTCCACCTGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04228.hp2 HG03688.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0043 a0001c0018t0028 a0001c0001t0043 a0001c0018t0028	a0001c0001t0043g0145 a0001c0018t0028g0146 a0001c0001t0043g0145 a0001c0018t0028g0146	2	363	0.0055	419	c.-48 others(434): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCC ACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCC CCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP13A3_chr3_194397677_194492002	194421126	A A	ATATATAT others(412): Show ATATATATATATATATATATATATATAGTTTATATATATATAGTTTATAT ATATATAAACTATATATATAGTATATATATAAACTATATATATAGTATAT ATATATACTATATATATAGTATATATATATACTATATATATAGTATATAT ATATACTATATATAGTTTATATATATATACTATATATATAGTTTATATAT ATATAAACTATATATATAGTTTATATATATAAACTATATATATAGTTTAT ATATATATAAACTATATATATAGTTTATATATATATAAACTATATATATA GTTTATATATATATAAACTATATATATAGTTTATATATATATAAACTATA TATATAGTTTATATATATATACTATATATAGTTTATATATATATACTATA TATATAGTATATATATATAC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0278 a0001c0001t0006g0278	1	304	0.0033	419	c.331 others(438): Show c.3314-1160_3314-1159insGTATATATATATACTATATATATAGT ATATATATATAAACTATATATAGTATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATAAACTATATATATAGTTTATATATATAT AAACTATATATATAGTATATATATATAAACTATATATAGTATATATATAT ACTATATATATAGTATATATATATACTATATATATAGTATATATATATAC TATATATATAGTTTATATATATACTATATATATAGTTTATATATATATAA ACTATATATATATAAACTATATATATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	82984480	G G	GGGGAGAG others(412): Show GGGGAGAGGCCATGTGAGCACACAGGGAGAGGCCACAGGAGGATGCAGGG AGAGACCACGTGATTATGCAGGGGAGAGGCCATGTGAGCACACAGGGAGA GGCCACAGGAGGACGCAGGGAGAGGCCACAGGAGGATGCAGGGAGAGACC ACGTGATTATGCAGGGGAGAGGCCATGTGAGCACACAGGGAGAGGCCACA GGAGGATGCAGGGAGAGACCACGTGATTATGCAGGGGAGAGGCCATGTGA GCACACAGGGAGAGGCCACAGGAGGACGCAGGGAGAGGCCACAGGAGGAT GCAGGGAGAGACCACGTGATTATGCAGGGGAGAGGCCATGTGAGCACACA GGGAGAGGCCACAGGAGGATGCAGGGAGAGACCACGTGATTATGCAGGGG AGAGGCCATGTGAGCACACA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp2 NA18522.hp2 HG03130.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0011g0067 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0011g0067	3	266	0.0113	419	c.460 others(438): Show c.460-18735_460-18734insTGTGTGCTCACATGGCCTCTCCCCTG CATAATCACGTGGTCTCTCCCTGCATCCTCCTGTGGCCTCTCCCTGTGTG CTCACATGGCCTCTCCCCTGCATAATCACGTGGTCTCTCCCTGCATCCTC CTGTGGCCTCTCCCTGCGTCCTCCTGTGGCCTCTCCCTGTGTGCTCACAT GGCCTCTCCCCTGCATAATCACGTGGTCTCTCCCTGCATCCTCCTGTGGC CTCTCCCTGTGTGCTCACATGGCCTCTCCCCTGCATAATCACGTGGTCTC TCCCTGCATCCTCCTGTGGCCTCTCCCTGCGTCCTCCTGTGGCCTCTCCC TGTGTGCTCACATGGCCTCTCCCCTGCATAATCACGTGGTCTCTCCCTGC ATCCTCCTGTGGCCTCTCCCTGTGTGCTCACATGGCCTCTCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BCCIP_chr10_125818546_125841551	125824766	G G	GCCTCTGC others(412): Show GCCTCTGCTTAGATTGCTGCATTGGCTTTCTAGTTCATTTACAAGAAAAT CAAGAGTCTTCACAATTGAGGGACGGAAAGGCAGCCTAGATGGCTGGATC AGAATAAGGAAGAGAGAGTGATAGGAAATAAAATCAGAGAGGTAATCATG AGTCATGATGAGCATGGAGGGGAGCATGGAGAGAAGCATGGATGCAGGAT TAGAGGTGACACCATGGTGTGGGTATGTGATCAATCTTCCTTCCCTTACA AATTTTACTTTGGCTCTATGCCTTGAATGCCATCTCACCATTTTTCACTT AGAACTTTGACTGGCTCTTTTATTACTTTTGGGTTATAGAAATCAATGCT GCTTGTGTTAACATGGGAAATCTATCACACCACCACAGTCTTAATTCTAA ATCACCTGGGAATGAGGGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(122): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp1 HG02071.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18995.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0001g0050 a0001c0001t0001g0135 a0001c0001t0001g0136 others(44): Show a0001c0001t0001g0050 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0173 a0001c0001t0004g0002 a0002c0002t0002g0002	125	446	0.2803	419	c.165 others(436): Show c.165+1045_166-1406dupCCTCTGCTTAGATTGCTGCATTGGCTTT CTAGTTCATTTACAAGAAAATCAAGAGTCTTCACAATTGAGGGACGGAAA GGCAGCCTAGATGGCTGGATCAGAATAAGGAAGAGAGAGTGATAGGAAAT AAAATCAGAGAGGTAATCATGAGTCATGATGAGCATGGAGGGGAGCATGG AGAGAAGCATGGATGCAGGATTAGAGGTGACACCATGGTGTGGGTATGTG ATCAATCTTCCTTCCCTTACAAATTTTACTTTGGCTCTATGCCTTGAATG CCATCTCACCATTTTTCACTTAGAACTTTGACTGGCTCTTTTATTACTTT TGGGTTATAGAAATCAATGCTGCTTGTGTTAACATGGGAAATCTATCACA CCACCACAGTCTTAATTCTAAATCACCTGGGAATGAGGGAC	BCCIP	ENSG00000107949.17	transcript	ENST00000278100.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
BCCIP_chr10_125818546_125841551	125824766	G G	GCCTCTGC others(412): Show GCCTCTGCTTAGATTGCTGCATTGGCTTTCTAGTTCATTTACAAGAAAAT CAAGAGTCTTCACAATTGAGGGACGGAAAGGCAGCCTAGATGGCTGGATC AGAATCAGGAAGAGAGAGTGATAGGAAATAAAATCAGAGAGGTAATCATG AGTCATGATGAGCATGGAGGGGAGCATGGAGAGAAGCATGGATGCAGGAT TAGAGGTGACACCATGGTGTGGGTATGTGATCAATCTTCCTTCCCTTACA AATTTTACTTTGGCTCTATGCCTTGAATGCCATCTCACCATTTTTCACTT AGAACTTTGACTGGCTCTTTTATTACTTTTGGGTTATAGAAATCAATGCT GCTTGTGTTAACATGGGAAATCTATCACACCACCACAGTCTTAATTCTAA ATCACCTGGGAATGAGGGAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	446	0.0022	419	c.165 others(436): Show c.165+1148_165+1149insCAGGAAGAGAGAGTGATAGGAAATAAAA TCAGAGAGGTAATCATGAGTCATGATGAGCATGGAGGGGAGCATGGAGAG AAGCATGGATGCAGGATTAGAGGTGACACCATGGTGTGGGTATGTGATCA ATCTTCCTTCCCTTACAAATTTTACTTTGGCTCTATGCCTTGAATGCCAT CTCACCATTTTTCACTTAGAACTTTGACTGGCTCTTTTATTACTTTTGGG TTATAGAAATCAATGCTGCTTGTGTTAACATGGGAAATCTATCACACCAC CACAGTCTTAATTCTAAATCACCTGGGAATGAGGGACCCTCTGCTTAGAT TGCTGCATTGGCTTTCTAGTTCATTTACAAGAAAATCAAGAGTCTTCACA ATTGAGGGACGGAAAGGCAGCCTAGATGGCTGGATCAGAAT	BCCIP	ENSG00000107949.17	transcript	ENST00000278100.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
C2CD4C_chr19_400445_414147	411085	G G	GCTGGGCC others(412): Show GCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCACCCCTGCTGGGCCTGAGGCGGGAGAAGGGTC CTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTC CACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCT GGGCACGGATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCT GGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCA CCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGG GCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGG GGGTCTGTCCACCGCCCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0141	a0001c0001t0141g0114 a0001c0001t0141g0114	1	322	0.0031	419	c.-21 others(430): Show c.-2121_-2120insTAGGGGCGGTGGACAGACCCCCAGGATCCGGGCC CAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGT GGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCA GGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCA GCAGGGGCGGTGGACAGACCCCAAGGATCCGTGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGG ATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGACCCTTCTCCCGC CTCAGGCCCAGCAGGGGTGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1939		chr19	TogoVar
C2CD4C_chr19_400445_414147	411133	A A	ATCCTGGG others(412): Show ATCCTGGGGATCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGTCACTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGC TGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCTCGGATCC TGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCC ACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTG GGCCCGAGCCGGGAGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0020 a0001c0001t0020g0020	1	322	0.0031	419	c.-21 others(430): Show c.-2169_-2168insCCCTCCTCCCGGCTCGGGCCCAGCAGGGGCGGTG GACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAG GATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGAGCCCAG CAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGA CAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACA GACCCCCAGGATCCGTGCCCAGCAGTGACGGTGGACAGACCCCCAGGATC CGGGCCCAGCAGTGACGGTGGACAGATCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1987		chr19	TogoVar
C2CD4C_chr19_400445_414147	411301	G G	GCCCCTGC others(412): Show GCCCCTGCTGGGAACAGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGC CCGAGCCGGGAGGAGGGTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCC CGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGG TCTGTCCACCGCCCCTGCTGGGAACAGATCCTGGGGGTCTGTCCACCGTC TCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCGTCTCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGA TCCTTGGGGTCTGTCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0174 a0001c0001t0119g0174	1	322	0.0031	419	c.-23 others(430): Show c.-2337_-2336insTGGTGGACAGACCCCAAGGATCCGGGCCCAGCAG AGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAG ACGGTGGACAGACCCCAAGGATCCGGGCCCAGCAGAGACGGTGGACAGAC CCCCAGGATCTGTTCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGC GGTGGACAGACCCCCAGGACCCTCCTCCCGGCTCGGGCCCAGCAGGGGCG GTGGACAGACCCCCAGGATCTGTTCCCAGCAGGGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2155		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(412): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGAG CTGGGAGGAGGGTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGAACGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGAACGGATCCTGGGGGTCTGT CCACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCGCCCCTGC TGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCC TTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02965.hp1 HG02280.hp1 HG02615.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0089 a0001c0004t0004 a0001c0001t0089 a0001c0004t0004	a0001c0001t0089g0048 a0001c0004t0004g0004 a0001c0001t0089g0048 a0001c0004t0004g0004	3	322	0.0093	419	c.-23 others(430): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCAAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGA TCCGTTCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTTCCCAGCA GGGGCGGTGGACAGACCCCCAGGACCCTCCTCCCAGCTCGGGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
CALY_chr10_133319072_133341896	133334411	A A	ATCTGAGG others(412): Show ATCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCT CTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAGGATCTG AGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGAAGGACATGAGG GAGAAGGATCTGAAAGGCGAAGGATCTGACGGGGGAAGGATCTGAGCGGG GAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGAGGCTCTGAGGGGGAAGG ACATGAGGGGAAGGATCTGAGGGGCGAAGGATCTGAGCGGGGAAGGCTCT GAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGA AGGGGAGGCTCTGAGGGGGAAGGACATGAGGGGAAGGATCTGAGGGGCGA AGGATCTGAGCGGGGAAGGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	250	0.0040	419	c.-21 others(436): Show c.-21+2422_-21+2423insGCCTTCCCCGCTCAGATCCTTCGCCCCT CAGATCCTTCCCCTCATGTCCTTCCCCCTCAGAGCCTCCCCTTCAGAGCC TTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCCTCAGAGCCTT CCCCGCTCAGATCCTTCGCCCCTCAGATCCTTCCCCTCATGTCCTTCCCC CTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCA GATCCTTCCCCCGTCAGATCCTTCGCCTTTCAGATCCTTCTCCCTCATGT CCTTCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCT TCGCCCCTCAGATCCTTCCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCC CCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCCTCAGA	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(412): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCC CACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	410	0.0024	419	c.-22 others(436): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCC TCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(412): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCC CTCCCCCTCCCCCCCTCCCCCTCCCCCCTTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTC CCCCCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCC CCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCC TCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0251	1	256	0.0039	419	c.-45 others(440): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCCCCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCCCCCCTCCCCCCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCC CCCTCCCCTCCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTC CCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP61_chr20_20047532_20365698	20356917	C C	CTGAGGGG others(412): Show CTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATAC TGCGAGTGGAGGTAGTCACACTGTGAAGGGTGATAGTCACACTGAGAGGA GGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACT GTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACT GAGGGGAGGTGGTCACAGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0003 a0001c0039t0003	a0001c0039t0003g0125 a0001c0039t0003g0125	1	236	0.0042	419	c.351 others(438): Show c.3514-3285_3514-3284insAGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAG GGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGATA GTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGG GGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTC ATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGG GGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(412): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGC AGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGA GGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGA GGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAG GAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGG GAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGG GGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	308	0.0033	419	c.637 others(434): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAG TCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCT TCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCT CCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(412): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGGCAGGG GGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGG AGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGA GGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAG GAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGG GAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGG GGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	308	0.0033	419	c.637 others(434): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGT CCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCCT CCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNST_chr1_246561456_246673595	246576190	G G	GCGCCACC others(412): Show GCGCCACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGT TTATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAA CATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0208 a0001c0001t0011g0208	1	320	0.0031	419	c.-52 others(436): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTC AAGGTTGTATTTCTGTTTATAACTGGTGGGGGGGGGGGAGTTAAATTAAT TTTGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCG GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCGTGGCTAACACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCG GGCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(412): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCA CATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	320	0.0031	419	c.-52 others(436): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCA AGGTTGTATTTCTGTTTATAACTGGTGGGGGGGGGGGGAGTTAAATTAAT TTTGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCG GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCG GGCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(412): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGG AGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0015 a0007c0011t0015	a0007c0011t0015g0213 a0007c0011t0015g0213	1	320	0.0031	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(412): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACT GGTGGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTGCT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATTGCGCCAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	320	0.0031	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAG CTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGG TGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01934.hp1 HG02015.hp1 others(8): Show HG00673.hp2 HG01934.hp1 HG02015.hp1 HG02109.hp1 HG02280.hp1 HG02630.hp2 HG03098.hp2 HG03516.hp2 HG03540.hp2 NA18950.hp1 NA18962.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0004c0004t0021	a0001c0001t0001g0210 a0001c0001t0001g0314 a0001c0001t0002g0315 others(8): Show a0001c0001t0001g0210 a0001c0001t0001g0314 a0001c0001t0002g0315 a0001c0001t0003g0211 a0001c0001t0004g0014 a0001c0001t0004g0150 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0005g0155 a0001c0001t0011g0212 a0004c0004t0021g0152	11	320	0.0344	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGG TGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG02559.hp2 others(1): Show HG01109.hp2 HG02280.hp2 HG02559.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0160 a0001c0001t0004g0157 a0001c0001t0004g0158 others(1): Show a0001c0001t0001g0160 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159	4	320	0.0125	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGG TGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCACCCCTGCG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	320	0.0031	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCACCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19005.hp2 NA18969.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0253 a0001c0001t0001g0254	2	320	0.0063	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(16): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 NA18944.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18969.hp2 NA19005.hp1 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0002c0002t0001	a0001c0001t0001g0198 a0001c0001t0001g0255 a0001c0001t0001g0274 others(16): Show a0001c0001t0001g0198 a0001c0001t0001g0255 a0001c0001t0001g0274 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0002g0107 a0001c0001t0002g0302 a0001c0001t0002g0310 a0001c0001t0003g0199 a0001c0001t0003g0297 a0001c0001t0018g0256 a0002c0002t0001g0027	19	320	0.0594	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGTGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0282 a0001c0001t0003g0282	1	320	0.0031	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGTGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTG GGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp2 HG02615.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0175 a0001c0001t0009g0013 a0001c0001t0002g0175 a0001c0001t0009g0013	2	320	0.0063	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAGAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGG TGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	320	0.0031	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAGAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CROCC2_chr2_240901336_240998311	240924811	C C	CCCCCACA others(412): Show CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CGGCCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACTGA CCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACT AACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCCACACTAACCCGGCCCCCCACACTAATCCGGCCCCCACACTAACCCGG CCCCCACACTAACCCAGCCCCCCACACTAACCCAGTCCCCACACTAACCC AGTCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0106 a0012c0013t0001g0106	1	350	0.0029	419	c.489 others(434): Show c.489-892_489-891insCACACTAACCCGGCCCCCCACACTAACCCG GCCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACTGACC CAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAA CCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCAGTCCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCCACACTAATCCGGCCCCCACACTAACCCGGCC CCCACACTAACCCAGCCCCCCACACTAACCCAGTCCCCACACTAACCCAG TCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647272	T T	TCCACAAT others(412): Show TCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCT CCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCTCA CCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCT CCTCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCC TCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCAC AATCCTCCTCCTCACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCC TCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCAC ACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCC TCCTCACCCCTCCTCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	276	0.0036	419	c.51 others(430): Show c.5132_*5133insCCACAATCCTCCTCCACACCCCTCCTCCTCAATC CTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCA CAATCCTCCTCCTCACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTC CTCCTCCACAATCCTCCTCCTCACCCCTCCTCCTCTGCCACACCCCTACT CCTCCTCACCCATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACA CCCCTCCTCCTCCACAATCCTCCTCCTCACCCCTCCTCCTCCACAATCCT CCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCC ACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCT CCTCCACAATCCTCCTCCTCACCCCTCCTCCTCCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1928		chr15	TogoVar
CTU2_chr16_88701503_88720396	88713210	T T	TGAGAGCC others(412): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGGCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCTCTTCCCCGGGC CCTGACCCCCACTCATACCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0158 a0002c0003t0005g0158	1	418	0.0024	419	c.738 others(432): Show c.738-56_738-55insGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACT CATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCTCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(412): Show GCTATAACCACCACCACCACCACCACTATAACCATCACCACCACCACTAT AACCACCATCATCATCACCACCACTACCACTACTATAACCATCACCACCA CCACCACCACCACTATAATCATTACCACTATAACCACCACTACCACCACT ACCACTATGATAACCATCACCAACACCACTATAACCACCAATGCCAAGAA GTGTTCATAGCAGGAGTCATAAACACAGGACCAACCAGGGATAGGACCAA CCAGGACCAACCAGGACCAACACCACCACCACTACTACCACTACTATAAC CATCACCACCATCACTGCTATAATCACCACCACCACCACCATCACTATAA CCATCACCATCATCACCACTATAACCACCACTACCACCACCACCACCAGT TATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0222 a0001c0004t0007g0222	1	230	0.0044	419	c.724 others(438): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGATGGTGATGGTTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTG GTGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIP2C_chr10_269201_694668	556162	A A	ACCCCTCC others(412): Show ACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACA GCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCGAG GACAGCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCAC CCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCCTCCCACAG CCGGATCCGAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAG GACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCAC CCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCC ACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATC CCAGGACGGCACCCACCCAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0078 a0001c0004t0003g0078	1	88	0.0114	419	c.86- others(436): Show c.86-69633_86-69632insGTGGGTGGGTGCCGTCCTGGGATCCGGC TGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGG GTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGC CGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATC CGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTCGGATCCGGCTGTGGGA GGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGG GTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCTCGGATC CGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAG GGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1385414	A A	ACCCCGGC others(412): Show ACCCCGGCCTGTGCCTGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGC CTATGCCTGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCC GTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTG AGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTG GTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCACAG TTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCG GCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGC CCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCC TGAGAATTTGGTGCAGTTAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	419	c.107 others(440): Show c.107-115949_107-115948insCGGCCTGTGCCTGTCCCCTGAGAA CTTGGTGCACAGTTACCCCGGCCTATGCCTGGCCCCTGAGAACTTGGTGC ACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTAC CCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCT ATGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGG CCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAG AACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGT GCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTT ACCCCGGCCTATGCCCGTCCCCTGAGAATTTGGTGCAGTTACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH17_chr17_78418697_78582396	78438423	A A	AGGAGGAG others(412): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAG GAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGA GGAGGGGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAAGGAGGAGGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0087 a0087	a0087c0229 a0087c0229	a0087c0229t0002 a0087c0229t0002	a0087c0229t0002g0008 a0087c0229t0002g0008	1	252	0.0040	419	c.118 others(438): Show c.11806-556_11806-555insCTCCTCCTCCTCCTCCTCCCTCCTCC TCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCT CCTCCCTCCTCCTTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCTCCTCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCTC CTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTC CCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
EIPR1_chr2_3183970_3382818	3315169	C C	CCATCCCC others(412): Show CCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCA CACCCCCTACCACCACGATCACCACCATCCCCATCCACACCCCCTACCAC CACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACC ATCCCTATCCACACCCCCTACCACCATCCTCACCACCATCCCCATCCACA GCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCA CCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCAT CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACC CCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACC ATCACCACCATCCCCATCCA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	250	0.0040	419	c.259 others(438): Show c.259+22847_259+22848insTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGGATAGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGATCGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(412): Show TATATATAATTATATATGATATATTATTATATATAATTATATATGATATA TAATTATATATATTACATATCATATATAATCTTAATATATTATATATTAT ATTATATATTATTATATATAATATATTATATATTACATAACATATATATT ATTATAATATATAATATATTATATATTATATTATATATAATAATATATAA TATGTTATATTATATATTATATTATATATAATAATATGTAATATATAATT ATATTATATACTATTATAATAATTATAATAATATTAATATTATATTATAA TTATAATAGACACATATAATAATAATTATAATAATTAGCAGATTATTTTA TAATAATATTATATAATATGTATTAATAACATATAATATAATATACAATC TATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03225.hp1 HG03453.hp2 others(1): Show HG01884.hp2 HG03225.hp1 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	4	314	0.0127	419	c.40 others(430): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTATAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATAATATATAATATAACATATTATATATTATTAT ATATAATATAATATATAATATATTATATATTATAATAATATATATGTTAT GTAATATATAATATATTATATATAATAATATATAATATAATATATAATAT ATTAAGATTATATATGATATGTAATATATATAATTATATATCATATATAA TTATATATAATAATATATCATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
EXPH5_chr11_108500435_108598768	108586505	T T	TCCCCCAC others(412): Show TCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCAT CCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCATCCTCTTTCC TCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCC CCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCC TTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCC CTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCAT CCTCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTC CTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCC CCCATCCCCTTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0033 a0033	a0033c0024 a0033c0024	a0033c0024t0027 a0033c0024t0027	a0033c0024t0027g0017 a0033c0024t0027g0017	1	314	0.0032	419	c.119 others(436): Show c.119+6912_119+6913insGAGGGAGGAAAGGGGATGGGGGAGGGAG GAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGG ATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGAGGATGGGGAG GGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAA GGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGATGG GGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGA GGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGAG GATGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGA GGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226429	C C	CAGGCCAG others(412): Show CAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	346	0.0029	419	c.-76 others(436): Show c.-76-2704_-76-2703insGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGC CAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FHIT_chr3_59742277_61256452	60860565	A A	ATGATATA others(412): Show ATGATATATATGTATCATATATACATATGATGTATGTCATGTATACATAT GATGTATGTCATGTATACATATGATGTATGTCATGTATACATATGATGTA TGTCATGTATACATATGATGTATGTCATGTATACATATGATGTATGTCAT GTATACATATGATGTATGTCATGTATACATATGATGTATCTCATGTATAC ATATGATGTATCTCATGTATACATATGATGTATCTCATGTATACATATGA TGTATCTCATGTATACATATGATGTATATGATACATATCATATATGATGT ATATGATACATATCATATATGATGTATATGATACATATCATATATGATGT ATATGATACATATCATATATGATATATATGATACATATCATATATGATAT ATATGATACATATCATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	46	0.0217	419	c.-11 others(440): Show c.-110-38555_-110-38554insATATATGATATGTATCATATATAT CATATATGATATGTATCATATATATCATATATGATATGTATCATATACAT CATATATGATATGTATCATATACATCATATATGATATGTATCATATACAT CATATATGATATGTATCATATACATCATATGTATACATGAGATACATCAT ATGTATACATGAGATACATCATATGTATACATGAGATACATCATATGTAT ACATGAGATACATCATATGTATACATGACATACATCATATGTATACATGA CATACATCATATGTATACATGACATACATCATATGTATACATGACATACA TCATATGTATACATGACATACATCATATGTATACATGACATACATCATAT GTATACATGACATACATCATATGTATATATGATACATATATATCA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(412): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCC CCCGCCCACCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACC CATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCCC CTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTC CCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCCC CCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCC AGCCTACCCCCTCCCCCCGCCCCACCCACTCCTCCCGCCCCCTCCAGCCT ACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCC GCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0000 a0014c0019t0001g0000	1	406	0.0025	419	c.33 others(430): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTC CAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCCTCCAGCCT ACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCT CCCCCCACCCATCCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCC CACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCA CCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCC TCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCCACCCACTCCTCC CGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAG CCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(412): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCA TCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCT CCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCG CCTCCCCCCCAGCCTACCCCCTCCCCCCCGCCCACCCCCCCTCCCGCCCC CCTCCAGCCTACCCCTCCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCC CAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCT ATCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCC GCCCACCCCCCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	1	406	0.0025	419	c.33 others(430): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCC CCCCGCCCACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCAC CCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCCGCCCAC CCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCCGCCCACCCCCTC CTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCC CGCCCCCTCCAGCCTATCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAG CCTACCCCTCCCCCCGCCCACCCCCCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
GAS6_chr13_113815549_113869076	113841791	G G	GTTTCCTC others(412): Show GTTTCCTCCATATGCCCAGTTTCCTCCATACACCCCAGTTTCCTCCATAT GCCTCAATTTCCTCCATACGCCCCCCAGTTTCTTCCATACACCCCACAGT TTCCTCCATACACCCCACAGTTTCCTCCATATGCCCAGTTTCCTCCATAC ACCCCACAGTTTCCTCCATATGCCTCAATTTCCTCCATATGCCCCCCAGT TTCTTCCATACACCCCACAGTTTCCTCCATACGCCCCACAGTTTCCTCCA TATGCCCAGTTTCTTCCATACGCCCCACAGTTTCCTCCATATGCCTCAAT TTCCTCCATACGCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCA TACGCCCCACAGTTTCCTCCATATGCCCAGTTTCTTCCATACGCCCCACA GTTTCCTCCATATGCCTCAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18522.hp2 HG02145.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0015 a0002c0005t0001g0016 a0002c0005t0001g0015 a0002c0005t0001g0016	2	143	0.0140	419	c.344 others(436): Show c.344-1942_344-1941insTTGAGGCATATGGAGGAAACTGTGGGGC GTATGGAAGAAACTGGGCATATGGAGGAAACTGTGGGGCGTATGGAGGAA ACTGTGGGGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGC ATATGGAGGAAACTGTGGGGCGTATGGAAGAAACTGGGCATATGGAGGAA ACTGTGGGGCGTATGGAGGAAACTGTGGGGTGTATGGAAGAAACTGGGGG GCATATGGAGGAAATTGAGGCATATGGAGGAAACTGTGGGGTGTATGGAG GAAACTGGGCATATGGAGGAAACTGTGGGGTGTATGGAGGAAACTGTGGG GTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATATGGAG GAAACTGGGGTGTATGGAGGAAACTGGGCATATGGAGGAAA	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14			chr13	TogoVar

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Search Results (Total: 10000 hits)