Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ 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
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(493): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTC CCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCT CCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTC TCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02273.hp2 HG00408.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0019 a0001c0001t0014 a0001c0001t0019	a0001c0001t0014g0018 a0001c0001t0019g0001 a0001c0001t0014g0018 a0001c0001t0019g0001	2	270	0.0074	500	c.162 others(521): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCC TCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCC TTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTT CCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(493): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19085.hp1 NA18962.hp2 NA19085.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0005 a0001c0007t0001 a0001c0007t0005	a0001c0007t0001g0153 a0001c0007t0005g0152 a0001c0007t0001g0153 a0001c0007t0005g0152	2	344	0.0058	500	c.85- others(517): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGC CTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTG CCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CREB3L2_chr7_137869979_138007086	137946852	T T	TTATATAT others(493): Show TTATATATATAGTTATATATATATAGTTATATATATAGTTATGTATATAT AGTTATATATAGTTATATATATATAGTTATATATATAGTTATATATATAG TTATATATATAGTTATATATATATAGTTATATATATAGTTATATATATAT AGTTATATATATAGTTATATATATATAGTTATATATATAGTTATATATAT ATAGTTATATATATAGTTATATATATAGTTATATATATAGTTATATATAT AGTTATATATATAGTTATATATATATAGTTATATATATAGTTATATATAT ATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATATAT ATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATAT ATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTAT ATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTT A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0100 a0001c0004t0001g0100	1	288	0.0035	500	c.103 others(519): Show c.103-18487_103-18486insTAACTATATATATAACTATATATATA TAACTATATATATAACTATATATATATAACTATATATATAACTATATATA TATAACTATATATATAACTATATATATATAACTATATATATAACTATATA TATATAACTATATATATAACTATATATATATAACTATATATATAACTATA TATATATAACTATATATATAACTATATATATATAACTATATATATAACTA TATATATATAACTATATATATAACTATATATATAACTATATATATAACTA TATATATAACTATATATATAACTATATATATATAACTATATATATAACTA TATATATATAACTATATATATAACTATATATATATAACTATATATATAAC TATATATATATAACTATATATATAACTATATATATAACTATATATATAAC TATATATATATAACTATATATAACTATATATACATAACTATATATATAAC TATATATATATAACTATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CYP4F11_chr19_15907377_15939529	15932021	T T	TGAGAAGA others(493): Show TGAGAAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGAAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGCAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0075 a0001c0004t0075	a0001c0004t0075g0042 a0001c0004t0075g0042	1	386	0.0026	500	c.198 others(517): Show c.198+2189_198+2190insGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTTCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCC TCACTCACTCATTCTTCTCCTCACTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCC TCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTGC CCACTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTTCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933125	G G	GAGAGGAA others(493): Show GAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGG CAGAGGAATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0190 a0002c0001t0005g0190	1	386	0.0026	500	c.198 others(517): Show c.198+1085_198+1086insGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCT CTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTC ACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCT CTGCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCT CTGCCCACTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933332	A A	ATGAGTGA others(493): Show ATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGAGGAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA G	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0184 a0002c0001t0005g0184	1	386	0.0026	500	c.198 others(515): Show c.198+878_198+879insCTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTCCTCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTCCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241766767	G G	GGAGCCCC others(493): Show GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0210 a0004c0005t0005g0210	1	412	0.0024	500	c.130 others(517): Show c.1307-906_1307-905insGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(493): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	367	0.0027	500	c.-42 others(511): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(493): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATTATATGC ATATAATATATGTATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATACATATATTATATGCATATAATATATACATATATTAT ATGCATATAATATATACATATATTATATGCATATAATATATACATATATT ATATGCATATAATATATGTATATATTATATGCATATAATATATGTATATA TTATATGCATATAATATATGTATATATTATATGCATATAATATATGTATA TATTATATGCATATAATATATGTATATATTATATGCATATAATATATACA TATATTATATGCATATAATATATACATATATTATATGCATATAATATATA C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	280	0.0036	500	c.126 others(517): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT ACATATATTATATGCATATAATATATACATATATTATATGCATATAATAT ATACATATATTATATGCATATAATATATACATATATTATATGCATATAAT ATATACATATATTATATGCATATAATATATGTATATATTATATGCATATA ATATATGTATATATTATATGCATATAATATATGTATATATTATATGCATA TAATATATGTATATATTATATGCATATAATATATGTATATATTATATGCA TATAATATATACATATATTATATGCATATAATATATGTATATATTATATG CATATAATATATATGTATATCATATAATATATAATATATAATTATATATT ATATATCATAATATGTAATATATAATTATATATTACATATATATATTTTA ATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DGKD_chr2_233349494_233477098	233396898	A A	AAGAGGAC others(493): Show AAGAGGACACCAGAGGGGACCAGGGTGGCTGGGGGGGGCAGAGCGAGAGG ACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGCGCCAGAGTGAGAGGACT CCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGA GGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGA GCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGG GTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGC TGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGG GGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGG GCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGCGCC AGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGT G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03098.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0026 a0001c0004t0021 a0001c0001t0026 a0001c0004t0021	a0001c0001t0026g0094 a0001c0004t0021g0121 a0001c0004t0021g0122 a0001c0001t0026g0094 a0001c0004t0021g0121 a0001c0004t0021g0122	3	336	0.0089	500	c.348 others(517): Show c.348+6437_348+6438insGGTGGCTGGGGGGGGCAGAGCGAGAGGA CTCCAGAGGGGACCAGGGTGGCTGGGGGGGGCGCCAGAGTGAGAGGACTC CAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGAG GGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAG CAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGG TGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCT GGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGG GGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGG CAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGCGCCA GAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTG AGAGGACACCAGAGGGGACCAG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	608555	C C	CCCCCCAC others(493): Show CCCCCCACACACACATCCCCCCCCACACACACACATCCCCCCCCACACAC ACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATCCCC CCCCACACACACACATCCCCCCCCACACACACACATCCCCCCCCACACAC ACACATCCCCCCCACACACACACATCCCCCCCCACACACACATCCCCCCC CACACACACACATCCCCCCCCACACACACACATCCCCCCCACACACACAC ATCCCCCCCACACACACACATCCCCCCCACACACACACATCCCCCCCACA CACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATC CCCCCCCACACACACATCCCCCCCCACACACACATCCCCCCCCACACACA CACATCCCCCCCCACACACACACATCCCCCCCCCACACACACATCCCCCC CCACACACACATCCCCCCCCCACACACACATCCCCCCCCCCACACACACA T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	88	0.0114	500	c.85+ others(517): Show c.85+80938_85+80939insATGTGTGTGTGGGGGGGGGGATGTGTGT GTGGGGGGGGGATGTGTGTGTGGGGGGGGATGTGTGTGTGGGGGGGGGAT GTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGG GGGGGGATGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGG GGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGT GTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGGGGGGGGAT GTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTG GGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATG TGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTG GGGGGGGATGTGTGTGTGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	748137	G G	GGCGGGTC others(493): Show GGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTG CGGTGGGATGAGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATG GGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTG CGGTGGGATGGGCGGGTCTGTGGTGGGATGGGCGGGTCTGCGGTGGGATG GGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTG CGGTGGGATGAGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATG GGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTG CGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATG GGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGAGCGGGTCTG CGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATG A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	500	c.18+ others(517): Show c.18+10353_18+10354insGGGCTCTGCGGTGGGATGAGCGGGTCTG CGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATG GGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTG TGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATG GGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGAGCGGGTCTG CGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATG GGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTG CGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATG GGGGGCTCTGCGGTGGGATGAGCGGGTCTGCGGTGGGATGGGGGGCTCTG CGGTGGGATGGGGGGCTCTGCGGTGGGATGAGCGGGTCTGCGGTGGGATG GGCGGGTCTGCGGTGGGATGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EXD3_chr9_137301896_137428162	137329656	G G	GTCACACG others(493): Show GTCACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGG ACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGGCTACACGGGGTCACACGGGACTACACGGG ACTACACGGGGCTACACGGGGTCACACGGGACTACACGGGACTACACGGG ACTACACGGGGCTACACGGGGTCACACGGGACTACACGGGACTACACGGG GCTACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACACGGG ACTACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGG ACTACACGGGGCTACACGGGGCTACACGGGACTACACGGGGCTACACGGG ACTACACGGGGTCACACGGGACTACACGGGGTCACACGGGACTACACGGG GCTACACGGGACTACACGGGGCTACACGGGACTACACAGGGTCACACGGG A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	82	0.0122	500	c.199 others(519): Show c.1999-5514_1999-5513insTCCCGTGTGACCCTGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGT GTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGT GTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(493): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0047	1	272	0.0037	500	c.238 others(521): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTAGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(493): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	272	0.0037	500	c.238 others(521): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATAAA others(493): Show TATATAAATATATATAAATATATAAATATATAAAAATATATAAATATATA AATATATAAAAATATATAAATACATAAATATATAAATATATAAATATATA TACATAAATATATAAATATATAAATATATAAATATATAAATACATAATAT ATATAAATATAAAATATATATAATATATAAAATATATTAAAAATATAAAA ATATATATAAAAAATATATAAATATATAAAAATATATAAAAAATATATAC ACATATAAATATATATAAAAATATATAAATATATATAAAAATATATAAAT ATATATTATATATAAATATATAATATATAAATATATACAATATATAAATA TATATAAATATATACAATATATAAATATATATAAATATATACAATATATA AATATATATAAATATATACAATATATAAATATATATAAATATATACAATA TATAAATATATATAAATATATACAATATATAAATATATATAAATATATAT A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	344	0.0029	500	c.617 others(517): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTGTATATATTTATATATATTTATA TATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATT TATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATA TTATATATTTATATATAATATATATTTATATATTTTTATATATATTTATA TATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTATAT ATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATATA TTATATATATTTTATATTTATATATATTATGTATTTATATATTTATATAT TTATATATTTATATATTTATGTATATATATTTATATATTTATATATTTAT GTATTTATATATTTTTATATATTTATATATTTATATATTTTTATATATTT ATATATTTATATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FHIT_chr3_59742277_61256452	59986774	A A	ATATATTT others(493): Show ATATATTTATATAAATATATAAATAATTTATATATTTATATAAATATATT TATATAAATGTATAAATATATTTATATAAATGTATAAATATATTTATATA AATGTATAAATATATTTATATAAATGTATAAATATATTTATATAAATATA TAAATATAAATATATTTATATAAATATATAAATATAAATATATAAATATA AATATATAAATATAAATATATAAATATAAATATATTTATATAAATATATA AATATATTAATATAAATATATTTATATAAATATATTAATATAAATATATT TATATAAATATATAAATATATAAATATAAATATATTTATATAAATATATA AATATATAATATAAATATATTTATATAAATATATAAATATATAATATAAA TATATTTATATTATATATTTATATAAATATATAATATAAATATATTTATA TTATATATTTATATAAATATGTTTATATAAATATATAAATATAAATATAT T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	46	0.0217	500	c.279 others(519): Show c.279+24596_279+24597insAATATATTTATATTTATATATTTATA TAAACATATTTATATAAATATATAATATAAATATATTTATATTATATATT TATATAAATATATAATATAAATATATTTATATTATATATTTATATATTTA TATAAATATATTTATATTATATATTTATATATTTATATAAATATATTTAT ATTTATATATTTATATATTTATATAAATATATTTATATTAATATATTTAT ATAAATATATTTATATTAATATATTTATATATTTATATAAATATATTTAT ATTTATATATTTATATTTATATATTTATATTTATATATTTATATTTATAT ATTTATATAAATATATTTATATTTATATATTTATATAAATATATTTATAC ATTTATATAAATATATTTATACATTTATATAAATATATTTATACATTTAT ATAAATATATTTATACATTTATATAAATATATTTATATAAATATATAAAT TATTTATATATTTATATAAATATA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
GALNT9_chr12_132191372_132334589	132244483	C C	CGGGGGGC others(493): Show CGGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGAC GGGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGG GGGGCGTGGTGATGGGGGCTGGACGGGGGGGGCGTGGTGATGGGGCTGGA CGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATG GGGGCGTGGTGATGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGATG GGGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGAC GGGGGCGTGGTGATGGGGGCTGGACGGGGGGGGGCGTGGTGATGGGGCTG GACGGGGGGCGTGGTGATGGGGCTGGACGGGGGGCGTGGTGATGGGGCTG GACGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGA TGGGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGGCTGGAC G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	183	0.0055	500	c.107 others(519): Show c.1077+3426_1077+3427insCGTCCAGCCCCCATCACCACGCCCCC ATCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGT CCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCGTC CAGCCCCATCACCACGCCCCCCGTCCAGCCCCATCACCACGCCCCCCCCC GTCCAGCCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCG TCCAGCCCCATCACCACGCCCCCCCCATCCAGCCCCATCACCACGCCCCC CCGTCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCC GTCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCC CGTCCAGCCCCCATCACCACGCCCCCCATCCAGCCCCATCACCACGCCCC CATCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCG TCCAGCCCCATCACCACGCCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALP_chr19_56171008_56190775	56176258	G G	GCGGGGTG others(493): Show GCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0060 a0001c0002t0003g0060	1	444	0.0023	500	c.-40 others(515): Show c.-40+224_-40+225insCAGGGGCGGATGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGA GAGCCTAGGCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGA GAGCCTAGGCCAGGAGGGCA	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176337	G G	GAGGGGCG others(493): Show GAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCA GAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGCAGGGCA GAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCA CAGGGGCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCA GAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCA CAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCA GAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCA GAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCA GAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGCAGGGCA GAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCA C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02809.hp1 others(1): Show HG02451.hp2 HG02486.hp1 HG02809.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 others(1): Show a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343	4	444	0.0090	500	c.-40 others(515): Show c.-40+367_-40+368insCAGGGCAGAGGGGCGGATGCCAGCTGCAGC GGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCAGC GGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGC GGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGC GGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACC GGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACC GGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACC GGGGTGAGAGCCTAGGCCAGCAGGGCAGAGGGGCGGATGCCAGCTGCAGC GGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATCCCAGCTGCACC GGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACC GGGGTGAGAGCCTAGGCCAG	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(493): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTGGAGACGGAG C	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18979.hp2 NA19009.hp2 HG02074.hp2 NA18979.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0071 a0001c0002t0001g0252 a0001c0002t0001g0038 a0001c0002t0001g0071 a0001c0002t0001g0252	3	450	0.0067	500	c.146 others(517): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGCCTCA CTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(493): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATATATATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TATATAAATAACTATATAGATTTATATATATTTATTTATAAATAACTATA A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	208	0.0048	500	c.-97 others(517): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATATATATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAAA TAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(493): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TATATAAATAACTATATAGATTTATATATATTTATTTATAAATAACTATA A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01433.hp1 others(3): Show HG01081.hp1 HG01109.hp1 HG01433.hp1 HG01993.hp1 HG06807.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0002c0004t0001 a0002c0004t0022	a0001c0001t0004g0091 a0001c0001t0008g0174 a0001c0001t0008g0175 others(3): Show a0001c0001t0004g0091 a0001c0001t0008g0174 a0001c0001t0008g0175 a0001c0001t0015g0067 a0002c0004t0001g0112 a0002c0004t0022g0085	6	208	0.0289	500	c.-97 others(517): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAAA TAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(493): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TTTATAAATAACTATATAGATTTATATATATTTATTTATAAATAACTATA A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01928.hp1 others(1): Show HG01069.hp1 HG01071.hp1 HG01928.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0047	4	208	0.0192	500	c.-97 others(517): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAAA TAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATTTATAAATAACTATATAGATTTATATATATTTA TTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPRIN1_chr5_176590802_176615156	176591765	G G	GGTGTTGA others(493): Show GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	397	0.0025	500	c.50 others(511): Show c.5042_*5043insAACCATCACCATCACCTCAACACCAACACCATCA TCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCA TCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACA CCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCA ACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACA CCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCA ACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACC TCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATC ACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACC ATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATC ACCATCACCTCAACAC	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4036		chr5	TogoVar
GRAMD4_chr22_46615386_46684785	46643092	C C	CATCCATC others(493): Show CATCCATCCATCCATCCATCCATGCATCCATCCATGCATCCTTCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTG GATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCA TCCATCCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACC CACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATC TACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATC T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0194 a0001c0001t0006g0194	1	328	0.0031	500	c.283 others(517): Show c.283+5154_283+5155insGCATCCATCCATGCATCCTTCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGG ATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCAT CCATCCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCT ACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCT ATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643092	C C	CATCCATC others(493): Show CATCCATCCATCCATCCATCCATGCATCCATCCATGCATCCTTCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATC CATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCA TCCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACC CACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATC CATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATC T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	328	0.0031	500	c.283 others(517): Show c.283+5154_283+5155insGCATCCATCCATGCATCCTTCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCT ATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643092	C C	CATCCATC others(493): Show CATCCATCCATCCATCCATGCATCCATCCATGCATCCTTCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATC CATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCA TCCATTTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACC CACCCATCCATCCATCCATCCATTTATCCATCAATCCATCCATCCATCCA TCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATC CATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCA TTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATC TACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATC T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0061	1	328	0.0031	500	c.283 others(517): Show c.283+5150_283+5151insGCATCCATCCATGCATCCTTCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGG ATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCAT CCATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCC ACCCACCCATCCATCCATCCATCCATTTATCCATCAATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643092	C C	CATCCATC others(493): Show CATCCATCCATCCATCCATGCATCCATCCATGCATCCTTCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATC CATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCA TCCATTTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACC CACCCATCCATCCATCTATCCATTTATCCATCGTTCCATCCATCCATCCA TCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATC CATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCA TTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATC TACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATC T	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0016 a0001c0001t0008g0013 a0001c0001t0008g0016	2	328	0.0061	500	c.283 others(517): Show c.283+5150_283+5151insGCATCCATCCATGCATCCTTCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGG ATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCAT CCATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCGTTCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643147	C C	CCATCCAT others(493): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCGTTCCATCCATCCATCCATCCAT CCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCC ATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTCATTTAT CCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTACCCACCT ACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCAT G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0014	1	328	0.0031	500	c.283 others(517): Show c.283+5214_283+5215insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCGTTCCATCCATCCATCCATCCATCCATCC CTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATGCAT GCATCTATCCATCCATCCATCCATCCATCCATCCATTCATTTATCCATCC CTGGATCCATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCAT CCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATCC ATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(493): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCT ACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCAT CCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCAT G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG03017.hp1 others(1): Show HG00099.hp2 HG01081.hp2 HG03017.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0214 a0001c0001t0003g0215 others(1): Show a0001c0001t0003g0208 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216	4	328	0.0122	500	c.283 others(517): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCAT CCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGCATCCATCC ATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(493): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCC ATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCAT G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02027.hp2 HG02486.hp1 others(2): Show HG00733.hp1 HG02027.hp2 HG02486.hp1 HG02809.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0018 others(1): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0018 a0001c0001t0040	a0001c0001t0003g0210 a0001c0001t0003g0245 a0001c0001t0014g0052 others(2): Show a0001c0001t0003g0210 a0001c0001t0003g0245 a0001c0001t0014g0052 a0001c0001t0018g0230 a0001c0001t0040g0246	5	328	0.0152	500	c.283 others(517): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTCATTT ATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCATCCAT CTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGCATCCATCC ATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(493): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCC ATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCAT G	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18522.hp2 NA19030.hp2 HG01891.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0217 a0001c0001t0003g0242 a0001c0001t0003g0243	3	328	0.0092	500	c.283 others(517): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCAT CCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGCATCC ATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(493): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCC ATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCAT G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01433.hp2 others(4): Show HG01070.hp1 HG01071.hp1 HG01433.hp2 HG02300.hp1 HG02559.hp2 HG03017.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0041 a0001c0001t0003 a0001c0001t0041	a0001c0001t0003g0006 a0001c0001t0003g0104 a0001c0001t0003g0169 others(4): Show a0001c0001t0003g0006 a0001c0001t0003g0104 a0001c0001t0003g0169 a0001c0001t0003g0205 a0001c0001t0003g0221 a0001c0001t0003g0237 a0001c0001t0041g0006	7	328	0.0213	500	c.283 others(517): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCAT CCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGCATCC ATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(493): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCC ATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCC ATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCAT G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0235 a0001c0003t0003g0235	1	328	0.0031	500	c.283 others(517): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC CTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCAT CCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGCATCC ATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(493): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCAT CCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCC ATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCC ATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGAT CCATCTATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGCAT G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0227 a0001c0001t0063g0227	1	328	0.0031	500	c.283 others(517): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCAT CTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCT ATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCAT CCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGCATGCATCC ATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(493): Show CCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCC ATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCAT CCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCC ATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCC ATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGAT CCATCTATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGCAT G	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18980.hp2 HG02717.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0052 a0001c0001t0004 a0001c0001t0052	a0001c0001t0004g0233 a0001c0001t0052g0136 a0001c0001t0004g0233 a0001c0001t0052g0136	2	328	0.0061	500	c.283 others(517): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCC ATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCAT CCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCG ATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGC ATGCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(493): Show CCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCCATCC ATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCC ATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATCCAT TCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCC ATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCAT G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0313 a0001c0001t0056g0313	1	328	0.0031	500	c.283 others(517): Show c.283+5214_283+5215insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTT ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTAC CCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ATGCATGCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(493): Show CCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCCATCC ATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCT ATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCT GGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCC ATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCAT G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00733.hp2 others(12): Show HG00140.hp2 HG00323.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01175.hp1 HG02165.hp1 NA18970.hp1 NA18975.hp2 NA18995.hp1 NA19081.hp2 NA19085.hp2 NA19091.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 a0001c0001t0026 a0001c0001t0057 a0001c0001t0059	a0001c0001t0002g0081 a0001c0001t0002g0259 a0001c0001t0002g0266 others(12): Show a0001c0001t0002g0081 a0001c0001t0002g0259 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0288 a0001c0001t0002g0305 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0006g0174 a0001c0001t0006g0302 a0001c0001t0025g0265 a0001c0001t0026g0082 a0001c0001t0057g0304 a0001c0001t0059g0284	15	328	0.0457	500	c.283 others(517): Show c.283+5214_283+5215insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCC ATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCAC CTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ATGCATGCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(493): Show CCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCCATCC ATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCT ATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCT GGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCC ATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCAT G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	328	0.0031	500	c.283 others(517): Show c.283+5214_283+5215insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCAC CTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ATGCATGCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(493): Show CCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCCATCC ATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCT ATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCT GGATCCATCTGTCCATCCATCCATCCATCCATCCGTCCATCCATCCATCC ATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCC ATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCAT G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	328	0.0031	500	c.283 others(517): Show c.283+5214_283+5215insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCGTCCATCCAT CCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCC ATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCAC CTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ATGCATGCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRM4_chr6_34013643_34151087	34071772	C C	CACCACAC others(493): Show CACCACACACACAATCACCAGATACACACCACACACCCCTACACATGACT ACAGTACACTACACACCACACACAGACACACACATCACCACAGATACATA CCGCACACACGCCCTTACATCATCACACAGATACACAATCACACACCACA CAGATACACACCACACACACACATCACCACACAGATACCATACACACACA CCACTACACAGATACACACCACACACACACATCACCACACAGATACCATA CACAGACACACACACCACTACACAGATACACGCCACACACAGATACACAC ATCACCGCACAGATACACAACACACACAGACACACAATCACTACCCACCA GATACACAGCACACACAGACACACACATATCACCACACAGATACACACCA CACACACACTCCCACACATAACCACAAAAATACACACCACACACAGACAC ACACACATCACCACAGATACATGCCACACACACCCATATGTCACCACAGA T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0180 a0001c0002t0004g0180	1	282	0.0036	500	c.737 others(517): Show c.737-9745_737-9744insATCTGTGGTGACATATGGGTGTGTGTGG CATGTATCTGTGGTGATGTGTGTGTGTCTGTGTGTGGTGTGTATTTTTGT GGTTATGTGTGGGAGTGTGTGTGTGGTGTGTATCTGTGTGGTGATATGTG TGTGTCTGTGTGTGCTGTGTATCTGGTGGGTAGTGATTGTGTGTCTGTGT GTGTTGTGTATCTGTGCGGTGATGTGTGTATCTGTGTGTGGCGTGTATCT GTGTAGTGGTGTGTGTGTCTGTGTATGGTATCTGTGTGGTGATGTGTGTG TGTGGTGTGTATCTGTGTAGTGGTGTGTGTGTATGGTATCTGTGTGGTGA TGTGTGTGTGTGGTGTGTATCTGTGTGGTGTGTGATTGTGTATCTGTGTG ATGATGTAAGGGCGTGTGTGCGGTATGTATCTGTGGTGATGTGTGTGTCT GTGTGTGGTGTGTAGTGTACTGTAGTCATGTGTAGGGGTGTGTGGTGTGT ATCTGGTGATTGTGTGTGTGGT	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(493): Show CTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCCCTCCTCCT CCTCCCCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCC T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0050 a0003c0009t0050	a0003c0009t0050g0134 a0003c0009t0050g0134	1	290	0.0035	500	c.427 others(517): Show c.427-1062_427-1061insTCCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCCCCCCTCCCCCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCT CCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCCCCTCCT CCTCCTCCCCCCCCTCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCCCCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(493): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGG GGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGG TCAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGC C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18979.hp1 NA18971.hp1 NA18979.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0125 a0001c0010t0001g0126 a0001c0010t0001g0125 a0001c0010t0001g0126	2	334	0.0060	500	c.369 others(517): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGACGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGG CTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(493): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0031 a0002c0003t0003g0031	1	334	0.0030	500	c.369 others(517): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GCGGCTGGCCGGACGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTG GCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
INS_chr11_2154779_2166209	2161833	G G	GACCCCTG others(493): Show GACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCA GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCTC AGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCTCAGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	376	0.0027	500	c.-68 others(509): Show c.-684_-683insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCTGAGGACAGGGGTCCTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCTGAGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTCCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT GTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		625		chr11	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406118	T T	TCTTCCTC others(493): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCT TCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAG G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0075 a0001c0001t0103g0075	1	276	0.0036	500	c.71 others(509): Show c.715_*716insCCTAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTC AGTGACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCAC TCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAG GTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTC ACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGA GATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGA AGACTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCC TGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTG AAGGCCTGAGGAAG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	715		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406527	G G	GTGTGTGT others(493): Show GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTC GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0226 a0001c0001t0226	a0001c0001t0226g0106 a0001c0001t0226g0106	1	276	0.0036	500	c.30 others(509): Show c.306_*307insTTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTC CACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACA GAGGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGACGAGATGTCA CAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAG ATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAA GCCTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCT GAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGA AGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACA CACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACA AACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCA GTGACAAACACACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	306		chr2	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(493): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGT GCATGTGTATCCATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGT GCGTGCATGTATGTATGTGTATACACGTATATGTATTTGTGTGTGCATGT GTATGCATGTGTGTGCATGTATGGGCATGTGTGTATACCTGTGTGTATGT GTATTTGTGTTACATGTGTGTATATGTGTGTGTATTTACATGTGCATGTG TATACGTGTGTGTACGTGTATTTGTGCGTGTGTATTTACATATGCACGTG TATGCATGTGTGTATGTGTATGCATGTGTGTATGTGTGTGCATATGTGTA TGCATGTGTGTATGTGTGCATGTGTATATATGTGTCTATGTACTTGTGTG TATGTGTATGCATGTGTGTGTACATGTATGTATACGTGTGTATTTGTGTG TGCATGTGTATGCACGTGTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGG G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0159 a0001c0002t0159	a0001c0002t0159g0058 a0001c0002t0159g0058	1	198	0.0051	500	c.946 others(517): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACACATGCATACACATACACACAAGTACATAGACACATATATAC ACATGCACACATACACACATGCATACACATATGCACACACATACACACAT GCATACACATACACACATGCATACACGTGCATATGTAAATACACACGCAC AAATACACGTACACACACGTATACACATGCACATGTAAATACACACACAT ATACACACATGTAACACAAATACACATACACACAGGTATACACACATGCC CATACATGCACACACATGCATACACATGCACACACAAATACATATACGTG TATACACATACATACATGCACGCACGTGCATACACATGCACACACAAATA TACACACACATGGATACACATGCACACATATACACACACACACACACACA CACACACACACACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(493): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCC ACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTA AAGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCC ATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGT GAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTG CCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGA GTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGGGGC CACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACCCCT GAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCA C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02809.hp1 HG00642.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0108 a0001c0001t0005g0064 a0001c0001t0002g0108 a0001c0001t0005g0064	2	330	0.0061	500	c.430 others(515): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACC CTCTCACTCAGGGGTCCTGATGGCGGCCCCCACCCCTCACTCAGGGGCCC AGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCCTGATGCTGGCTCCCAT CCCCTCAGGGGTCCTGGTGGTGGCCCCCACCCCCTCACTCAGGGGTCCTG ATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCC TTTACTCAGGGGTCCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar

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Search Results (Total: 10000 hits)