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
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(557): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGC GCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCG CGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCG CGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCG CCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC CGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGG GGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0024 a0001c0002t0024g0024	1	210	0.0048	564	c.45+ others(575): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGG GGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGG GCGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGG GTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGG GTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGG TGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGC GGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLG_chr15_89311320_89339824	89325263	T T	TGAGTGAG others(557): Show TGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGTG AGTGAGTGAGTGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTGAG TGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAG TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGAG TGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGAGAG TGAGTGAGTGAGTGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	398	0.0025	564	c.194 others(581): Show c.1949+186_1949+187insTCACTCACTCACTCACTCTCTCACTCAC TCTCTCACTCACTCTCACTCACTCACTCACTCACTCACTCTCTCTCACTC ACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCTC ACTCACTCTCTCACTCACTCTCTCACTCTCTCACTCACTCACTCTCACTC ACTCACTCTCTCACTCACTCACTCTCACTCACTCACTCACTCTCACTCAC TCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCAC TCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTC ACTCACTCACTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTC TCTCACTCACTCACTCACTCACTCACACTCACTCACTCACTCACTCTCTC ACTCACTCACTCACTCTCACTCACTCTCTCACTCACTCTCTCACTCACTC ACTCACTCACTCTCTCACTCACTCACTCTCTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(557): Show AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCAT CTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCT GTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCA GCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGAC TTGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCT GAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0152 a0001c0002t0042g0152	1	340	0.0029	564	c.227 others(581): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGCCT GTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCA GCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCAT CTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGCATGACTTGGGATGCTGGGGGGCAGGGGGCCTGTCC TCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(557): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCACCTCCCCACT CCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCAA CCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCAC TCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTCC CATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCAC TCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCCA TCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCAC ACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCTA ACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTAC TCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCACC TCCCACCCCCATCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCCT ACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	396	0.0025	564	c.32 others(573): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGATGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGTG GAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGA GTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAG ATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGATGGG AGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(557): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCAC TCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCCA TCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCAC ACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCTA ACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTAC TCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCACC TCCCACCCCCATCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCCT ACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	396	0.0025	564	c.32 others(573): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGATGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGTGGGAGGTGGGGGGATGGAGTAGGGGTAGGGTTGGTGG AGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGAG TAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAGA TGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATGGG AGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(557): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCAC ACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCTA ACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTAC TCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCACC TCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCCT ACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG03209.hp1 NA19240.hp2 HG02895.hp2 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	3	396	0.0076	564	c.32 others(573): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGATGGGAGTAGGGATGAGGGTGGG AGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGAG TAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGTGG AGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGAG TAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAGA TGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATGGG AGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(557): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCA CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCACCCCCCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA20905.hp1 HG03491.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0013 a0001c0001t0003 a0001c0002t0013	a0001c0001t0003g0124 a0001c0002t0013g0053 a0001c0001t0003g0124 a0001c0002t0013g0053	2	204	0.0098	564	c.880 others(581): Show c.880-4601_880-4600insGGGGGGGTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(557): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCA CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19000.hp2 NA19007.hp1 others(3): Show HG02486.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19074.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0060 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077	6	204	0.0294	564	c.880 others(581): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(557): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTC CCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	150	0.0067	564	c.77- others(581): Show c.77-45374_77-45373insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCAT CCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(557): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTC CCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	158	0.0063	564	c.22+ others(581): Show c.22+36337_22+36338insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCAT CCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHC2_chr19_411589_466033	433446	C C	CAGATAGA others(557): Show CAGATAGATGGCGCTTCATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGA TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCATGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGTTAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGTGC TTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATA GATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCG GGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGA GGAGGCGGGGCAGAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	212	0.0047	564	c.111 others(583): Show c.1110+1262_1110+1263insATCTGCCCCGCCTCCTCTATCTCTCA CTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCT AACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGG CCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCACCATCTAT CTGCCCGGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCG CCATCTATCTGCCCCGCCTCCTCTAACTCTCACTCACGATCTCACTCACG ATGAAGCGCCATCTATCTGCCTGGCCTCCTCTATCTCTCACTCACGATCT CACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTCTCACTCACGATCT CACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACT CACGATCTCACTCATGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAT CTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCC TCCTCTATCTCTCACTCACGATGAAGCGCCATCTATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHOX_chrX_625791_656584	626115	G G	GTCTCTCT others(557): Show GTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATC TCTGTCTCTCTTTCTCTCTGTCTTTGTTCCTCTCTCTCTTTTTCTCTTTC TCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCT GTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCT CTCCTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGTCTCTCTCTCTCCTCT CTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTGTATCTCTG TCTCTGTCTCTCTTTCTCTCCTCTCTCTCTTTTTCTCTGTCTCTGTATCT CTGTCTATCTCTGTCTCTCTTTCTCTCTCTCATCTCTCTCTGTCTCTTTT TCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCTCCTCTCT TTTTCTCTGTCTCTGTCTGTCTCTGTCTCTCTCTCTCCTCTCTCTGTATC TCTGTCTCTGTCTCTCTTTCTCTCCTCTCTTTTTCTCTGTCTCTGTATCT CTGTCTATCTCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0170 a0001c0001t0170	a0001c0001t0170g0066 a0001c0001t0170g0066	1	220	0.0046	564	c.-47 others(575): Show c.-4783_-4782insTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCT GTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTTGTTCCTCTCT CTCTTTTTCTCTTTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCT CTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACC TCTGTCTCTCTTTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGT CTCTCTCTCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCT CTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTCTTTTTC TCTGTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCATCT CTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCT CTTTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGTCTCTCTCTC TCCTCTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTTTTTC TCTGTCTCTGTATCTCTGTCTATCTCTGTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4675		chrX	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(557): Show TATGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATAT GTATATATATACATAGAAAATATATATACATGTTTTATATGTATATATAT ACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAA TATATATACATATGTTTTATATGTATATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGT ATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATAT ACATAGAAAATATATGTACATATGTTTTCTATGTATATATACATAGAAAA TATATGTACATATGTTTTATATGTATATATACATAGAAAATATATGTACA TATGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATAT GTATATATACATAGAAAATATATATACATGTTTTATATGTATATATACAT AGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03486.hp2 HG00735.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0188 a0001c0001t0003g0187 a0001c0001t0001g0188 a0001c0001t0003g0187	2	300	0.0067	564	c.626 others(581): Show c.626+5706_626+5707insATACATGTTTTATATGTATATATATACA TAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATAT ATATACATGTTTTATATGTATATATATACATAGAAAATATATATACATAT GTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TATACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATA GAAAATATATGTACATATGTTTTATATGTATATATATACATAGAAAATAT ATGTACATATGTTTTCTATGTATATATACATAGAAAATATATGTACATAT GTTTTATATGTATATATACATAGAAAATATATGTACATATGTTTTATATG TATATATACATAGAAAATATATATACATGTTTTATATGTATATATACATA GAAAATATATATACATGTTTTATATGTATATATACATAGAAAATATATAT ACATGTTTTATATGTATATATACATAGAAAATATAT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GCCCCCCT others(557): Show GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTG CACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCC TCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCGTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCC TCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCC CCCCTCTAACCGTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCC AGCCCCCCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGC TCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGACCCCCTCTAA CCCTCTGCACACCCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0004 a0002c0023t0004	a0002c0023t0004g0010 a0002c0023t0004g0010	1	118	0.0085	564	c.125 others(581): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGTCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGAGCAGAGGGTTAGGGGGGCTGGGTGAGCAGAGG GTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGGGGGGCTGGGTGTGCA GAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGGGGGGCTG GGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGG GCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAG GGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTT AGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(557): Show CATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATT CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TTCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATTCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCAGTGTTGGTCCATCTACCATCCATCATCCTCCCCCTC CTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	420	0.0024	564	c.107 others(581): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT AGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGGTGGATGGATGGATGGATGGAT GGATGGGTAGATGGATGGATAGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SNX9_chr6_157818246_157950077	157827306	T T	TATATAAT others(557): Show TATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTA TATAATATATAAACATATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATAAAATATATTATA GTTTATATAATATATACATATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTCATATAATATATAAACATATATT ATAGTTCATATAATATATAAACATATATTATAGTTCATATAATATATAAA CATATATTATAGTTC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	302	0.0033	564	c.12+ others(579): Show c.12+3880_12+3881insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATAAAATATATTATAG TTTATATAATATATACATATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTCATATAATATATAAACATATATTA TAGTTCATATAATATATAAACATATATTATAGTTCATATAATATATAAAC ATATATTATAGTTCATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827335	T T	TATATAAT others(557): Show TATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTA TATAATATATAAACATATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATAAAATATATTATAGTTTATATAATATATACATAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTCATATAATATATAAACATATATT ATAGTTCATATAATATATAAACATATATTATAGTTCATATAATATATAAA CATATATTATAGTTC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	302	0.0033	564	c.12+ others(579): Show c.12+3909_12+3910insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATAAAATATATTATAGTTTATATAATATATACATATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTCATATAATATATAAACATATATTA TAGTTCATATAATATATAAACATATATTATAGTTCATATAATATATAAAC ATATATTATAGTTCATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATAGTA others(557): Show ATATAGTATTATATATTTTATATACAGTATATATATTATATATAGTATTA TATATTTTATATATAGTATATTTTATATATAGTATATATTATATATAGTA TATATTTTATATATAGTATATATATTATATATAGTATATATTTTATATAT AGTATATATATTATATATATATTTTATATATAGTATATATATTATATAGT ATATATTTTATATATAGTATATATATTATATAGTATATATTTTATATATA GTATATATATTATATATAGTATATATTTTATATATAGTATATATATTATA TATAGTATATATTTTATATATAGTATATATTTTATATATAGTATATATTT TATATATAGTATATATATTATATATAGTATATATTTTATATATAGTATAT ATATTATGTATAGTATATATATTATATATAGTATATATTTTATGTATAGT ATATATATTATGTATAGTATATATTTTATATATAGTATATATATTATGTA TAGTATTATATATTTTATATATAGTATATATATTATGTATAGTATTATAT ATTTTATATATATGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0099 a0003c0004t0001g0099	1	268	0.0037	564	c.291 others(583): Show c.2914+1206_2914+1207insTATAGTATTATATATTTTATATACAG TATATATATTATATATAGTATTATATATTTTATATATAGTATATTTTATA TATAGTATATATTATATATAGTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATATTATATATATATTTTAT ATATAGTATATATATTATATAGTATATATTTTATATATAGTATATATATT ATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATATT TTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTATA TATTTTATATATAGTATATATTTTATATATAGTATATATATTATATATAG TATATATTTTATATATAGTATATATATTATGTATAGTATATATATTATAT ATAGTATATATTTTATGTATAGTATATATATTATGTATAGTATATATTTT ATATATAGTATATATATTATGTATAGTATTATATATTTTATATATAGTAT ATATATTATGTATAGTATTATATATTTTATATATATGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SPNS3_chr17_4428940_4493204	4462390	C C	CACCAATC others(557): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCTATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATC CATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAA TCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACC CACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCA TCCACCAGTCTATCA	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18984.hp1 NA18984.hp2 HG03654.hp2 NA18984.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0001 a0001c0006t0002 a0001c0001t0001 a0001c0003t0001 a0001c0006t0002	a0001c0001t0001g0221 a0001c0003t0001g0172 a0001c0006t0002g0089 a0001c0001t0001g0221 a0001c0003t0001g0172 a0001c0006t0002g0089	3	362	0.0083	564	c.111 others(583): Show c.1113+9186_1113+9187insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCA TCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATC CATCCATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCA TCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACC CACCCACCCACCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462394	C C	CACCAATC others(557): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCTATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATC CATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAA TCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACC CACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCA TCCACCAGTCTATCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG01516.hp1 others(11): Show HG00642.hp1 HG01106.hp2 HG01516.hp1 HG01517.hp2 HG02145.hp1 HG02723.hp1 HG02965.hp2 HG03139.hp2 HG03471.hp1 HG03579.hp1 HG03710.hp2 HG06807.hp2 NA18906.hp1 NA20129.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0003 a0001c0010 a0003c0008 others(2): Show a0001c0003 a0001c0010 a0003c0008 a0003c0016 a0005c0015	a0001c0003t0001 a0001c0010t0001 a0003c0008t0003 others(2): Show a0001c0003t0001 a0001c0010t0001 a0003c0008t0003 a0003c0016t0001 a0005c0015t0003	a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 others(11): Show a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0345 a0001c0003t0001g0346 a0001c0010t0001g0030 a0003c0008t0003g0100 a0003c0008t0003g0102 a0003c0016t0001g0083 a0005c0015t0003g0104	14	362	0.0387	564	c.111 others(583): Show c.1113+9190_1113+9191insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCA TCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATC CATCCATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCA TCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACC CACCCACCCACCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462398	C C	CACCAATC others(557): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCTATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATC CATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAA TCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACC CACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCA TCCACCAGTCTATCA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01257.hp2 HG01258.hp2 others(10): Show HG01169.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG02129.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG03540.hp1 HG04184.hp2 NA18954.hp1 NA18971.hp1 NA18980.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0034 others(4): Show a0001c0001 a0001c0003 a0001c0034 a0003c0005 a0003c0008 a0003c0020 a0003c0021	a0001c0001t0001 a0001c0003t0002 a0001c0034t0002 others(4): Show a0001c0001t0001 a0001c0003t0002 a0001c0034t0002 a0003c0005t0001 a0003c0008t0003 a0003c0020t0001 a0003c0021t0003	a0001c0001t0001g0217 a0001c0003t0002g0315 a0001c0034t0002g0031 others(10): Show a0001c0001t0001g0217 a0001c0003t0002g0315 a0001c0034t0002g0031 a0003c0005t0001g0108 a0003c0005t0001g0177 a0003c0005t0001g0178 a0003c0005t0001g0182 a0003c0008t0003g0099 a0003c0008t0003g0101 a0003c0008t0003g0103 a0003c0008t0003g0176 a0003c0020t0001g0117 a0003c0021t0003g0190	13	362	0.0359	564	c.111 others(583): Show c.1113+9194_1113+9195insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCA TCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATC CATCCATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCA TCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACC CACCCACCCACCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462402	C C	CACCAATC others(557): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCTATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATC CATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAA TCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACC CACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCA TCCACCAGTCTATCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19064.hp2 NA20129.hp2 HG02717.hp2 NA19064.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0001c0044 a0003c0005 a0001c0006 a0001c0044 a0003c0005	a0001c0006t0002 a0001c0044t0002 a0003c0005t0001 a0001c0006t0002 a0001c0044t0002 a0003c0005t0001	a0001c0006t0002g0052 a0001c0044t0002g0238 a0003c0005t0001g0237 a0001c0006t0002g0052 a0001c0044t0002g0238 a0003c0005t0001g0237	3	362	0.0083	564	c.111 others(583): Show c.1113+9198_1113+9199insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCA TCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATC CATCCATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCA TCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACC CACCCACCCACCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462406	C C	CACCAATC others(557): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCTATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATC CATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAA TCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACC CACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCA TCCACCAGTCTATCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0320 a0001c0003t0001g0320	1	362	0.0028	564	c.111 others(583): Show c.1113+9202_1113+9203insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCA TCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATC CATCCATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCA TCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACC CACCCACCCACCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(557): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATC CCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCGCCCCACC CATCCCCCATCCTCCCCTCTGCCCCACCCATCCTCCCCTCTGCCCCACCC ATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCT CCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACC CACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCT CCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCTCTCCCCCCCA CCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACC CCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCT CCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCC ACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03239.hp1 HG04199.hp1 HG00280.hp2 HG03239.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0030 a0001c0001t0001g0061 a0001c0001t0005g0096 a0001c0001t0001g0030 a0001c0001t0001g0061 a0001c0001t0005g0096	3	112	0.0268	564	c.142 others(585): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCC TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCGCCCCACCCATCCCCCATCCTCCCCTCTGCCCCACCCAT CCTCCCCTCTGCCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTC CCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACC CATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTC CCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACC CATCCCTCTCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTC CTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCACC CATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(557): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATC CCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCGCCCCACC CATCCCCCATCCTCCCCTCTGCCCCACCCATCCTCCCCTCTGCCCCACCC ATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCTT CCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACC CACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCT CCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCTCTCCCCCCCA CCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACC CCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCT CCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCC ACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0060 a0001c0001t0016g0060	1	112	0.0089	564	c.142 others(585): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCC TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCGCCCCACCCATCCCCCATCCTCCCCTCTGCCCCACCCAT CCTCCCCTCTGCCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTC CCCTCACCCATCCCTCCTTCCGCCCCACCCATCCCTCCCTCCGCCCTACC CATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTC CCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACC CATCCCTCTCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTC CTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCACC CATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(557): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCATCTGAGAGGTGA GGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGTCGCCCCGTCTGGGATGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGAGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGG GGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGC CTGGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0038 a0001c0041t0038	a0001c0041t0038g0028 a0001c0041t0038g0028	1	94	0.0106	564	c.108 others(585): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACAGGGCGGCTGCCAGGCAGAGGCGCTCCCCACCTCTCAGACGGGGCG GCCGGGCAGAGGCGCTCCCCACATCCCAGACGGGGCGACCGGGCAGAGGC GCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCC CAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGCGCTCCTCACCTCTC AGATGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(557): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCAGCCGCCC CGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGTCGCCCCGTCTGGGATGTGGGGAGCGCCTCTGCCCGGCCACCCCGTC TGAGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGG GGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGC CTGGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19043.hp2 HG02886.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0026 a0001c0005t0064 a0001c0001t0026 a0001c0005t0064	a0001c0001t0026g0011 a0001c0005t0064g0094 a0001c0001t0026g0011 a0001c0005t0064g0094	2	94	0.0213	564	c.108 others(585): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACAGGGCGGCTGCCAGGCAGAGGCGCTCCCCACCTCTCAGACGGGGTG GCCGGGCAGAGGCGCTCCCCACATCCCAGACGGGGCGACCGGGCAGAGGC GCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCC CAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCTG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGCGCTCCTCACCTCTC AGACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(557): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCC TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGTCGCCCCGTCTGGGATGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGAGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGG GGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGC CTGGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0051 a0001c0030t0051	a0001c0030t0051g0052 a0001c0030t0051g0052	1	94	0.0106	564	c.108 others(585): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACAGGGCGGCTGCCAGGCAGAGGCGCTCCCCACCTCTCAGACGGGGCG GCCGGGCAGAGGCGCTCCCCACATCCCAGACGGGGCGACCGGGCAGAGGC GCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCC CAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGAGGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGCGCTCCTCACCTCTC AGACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(557): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGTCGCCCCGTCTGGGATGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGAGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGG GGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGC CTGGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp1 HG01884.hp2 others(11): Show HG01074.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG03195.hp1 NA19009.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0020 others(7): Show a0001c0001 a0001c0002 a0001c0020 a0001c0032 a0001c0043 a0002c0017 a0004c0026 a0004c0031 a0006c0009 a0007c0014	a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 a0001c0001t0057 a0001c0001t0059 a0001c0002t0027 a0001c0020t0001 a0001c0032t0023 a0001c0043t0024 a0002c0017t0012 a0004c0026t0053 a0004c0031t0049 a0006c0009t0031 a0007c0014t0001	a0001c0001t0001g0029 a0001c0001t0007g0063 a0001c0001t0015g0076 others(11): Show a0001c0001t0001g0029 a0001c0001t0007g0063 a0001c0001t0015g0076 a0001c0001t0057g0081 a0001c0001t0059g0085 a0001c0002t0027g0009 a0001c0020t0001g0031 a0001c0032t0023g0014 a0001c0043t0024g0015 a0002c0017t0012g0062 a0004c0026t0053g0050 a0004c0031t0049g0072 a0006c0009t0031g0021 a0007c0014t0001g0018	14	94	0.1489	564	c.108 others(585): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACAGGGCGGCTGCCAGGCAGAGGCGCTCCCCACCTCTCAGACGGGGCG GCCGGGCAGAGGCGCTCCCCACATCCCAGACGGGGCGACCGGGCAGAGGC GCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCC CAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGCGCTCCTCACCTCTC AGACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(557): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCTGGCAGCTGCCCTGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGTCGCCCCGTCTGGGATGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGAGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGG GGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGC CTGGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0054 a0006c0009t0054	a0006c0009t0054g0083 a0006c0009t0054g0083	1	94	0.0106	564	c.108 others(585): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACAGGGCGGCTGCCAGGCAGAGGCGCTCCCCACCTCTCAGACGGGGCG GCCGGGCAGAGGCGCTCCCCACATCCCAGACGGGGCGACCGGGCAGAGGC GCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCC CAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACAGGGCAGCTGCCAGGCAGAGGCGCTCCTCACCTCTC AGACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879329	A A	AGGAGCGC others(557): Show AGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTG CCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCC CCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGT GGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCT GCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCC GTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGG GGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGC CCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGT CTGGGATGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGG AGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCC CTGTCTGGGATGTGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18906.hp2 HG02886.hp1 NA18906.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0009 a0003c0010t0011 a0003c0010t0009 a0003c0010t0011	a0003c0010t0009g0024 a0003c0010t0011g0017 a0003c0010t0009g0024 a0003c0010t0011g0017	2	94	0.0213	564	c.108 others(585): Show c.1084+10455_1084+10456insCCACATCCCAGACAGGGCGGCTGC CAGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGCGCTCCCCACCTC TCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCCCAGACGGGGCGA CCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCG CTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCT CCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAG TCGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGG GCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGCGC TCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCC	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(557): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT GTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0168 a0001c0002t0004g0168	1	256	0.0039	564	c.924 others(581): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAAA GAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAGAGA GAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GACAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACA GAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TPK1_chr7_144446941_144841053	144780581	T T	TTATATTA others(557): Show TTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAAT ATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAG TATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATA TTATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGT ATATTATATTATATAGTATAGTATATTATATTATATAGTATAGTATATTA TATTATATAGTATAGTATATTATATTATATAGTATAGTATATTATATTAT ATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTATAT TATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATA TAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGT ATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATAT TATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTA TATTATATTATATAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	118	0.0085	564	c.44- others(581): Show c.44-14631_44-14630insCTATATAATATAATATACTATATTATAT ACTATATAATATAATATACTATATTATATACTATATAATATAATATACTA TATTATATACTATATAATATAATATACTATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATAATATACTATATTATATACTAT ATAATATAATATACTATATTATATACTATATAATATAATATACTATATTA TATACTATATAATATAATATACTATATTATATACTATATAATATAATATA CTATACTATATAATATAATATACTATACTATATAATATAATATACTATAC TATATAATATAATATACTATACTATATAATATAATATACTATATTATATA CTATATAATATAATATACTATATTATATACTATATAATATAATATACTAT ATTATATACTATATAATATAATATACTATATTATATACTATATAATATAA TATACTATATTATATACTATATAATATAATATACTATATTATATACTATA TAATATAATATACTATATTATATACTATATAATATA	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TRAF6_chr11_36478769_36515272	36507497	A A	ATATATAC others(557): Show ATATATACATGTATTATACATACATAAATGTATATATGTATATATACATG TATTATACATACATAAATGTATATATGTATATATACATGTATTATACATA CATAAATGTATATATACATTATACATACATAAATGTATATATGTATATAT ACATTATACATACATAAATGTATATATGTATATATACATTATACATACAT AAATGTATATATGTATATATACATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATATATACATTATACATA CGTAAATGTATTATACATAAATGTATATATGTATATATACATGTATTATA CATACATAAATGTATATATGTATATATACATGTATTATACATACATAAAT GTATATATGTATATATACATGTATTATACATACATAAATGTATATATGTA TATATACATGTATTATACATACATAAATGTATATATGTATATATACATGT ATTATACATACATAAATGTATATATGTATATATACATGTATTATACATAC ATAAATGTATATATG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0282 a0001c0001t0022g0282	1	388	0.0026	564	c.-23 others(581): Show c.-23+2550_-23+2551insCATATATACATTTATGTATGTATAATAC ATGTATATATACATATATACATTTATGTATGTATAATACATGTATATATA CATATATACATTTATGTATGTATAATACATGTATATATACATATATACAT TTATGTATGTATAATACATGTATATATACATATATACATTTATGTATGTA TAATACATGTATATATACATATATACATTTATGTATGTATAATACATGTA TATATACATATATACATTTATGTATAATACATTTACGTATGTATAATGTA TATATACATTATACATTTACGTATGTATAATGTATATATACATTATACAT TTACGTATGTATAATGTATATATACATATATACATTTATGTATGTATAAT GTATATATACATATATACATTTATGTATGTATAATGTATATATACATATA TACATTTATGTATGTATAATGTATATATACATTTATGTATGTATAATACA TGTATATATACATATATACATTTATGTATGTATAATACATGTATATATAC ATATATACATTTATGTATGTATAATACATGTATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273425	A A	AAAATTAT others(557): Show AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATTATATATATAAAAATTATATATATTATATATATA AAAATTATATATATATATTATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TATAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAATTATATATATATTA TATATATATATAAATTATATATATATTATATATATATAAATTATATATAT ATTATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	3	272	0.0110	564	c.29 others(575): Show c.2990_*2991insAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATAAAAATTATATATATTATATATATAAAAATTATA TATATTATATATATAAAAATTATATATATATATTATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATATAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA ATTATATATATATTATATATATATATAAATTATATATATATTATATATAT ATAAATTATATATATATTATATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2312		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273425	A A	AAAATTAT others(557): Show AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATTATATATATAAAAATTATATATATTATATATATA AAAATTATATATATATATTATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TATAAATTATATATATATTATATATATATATAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAATTATATATATATTA TATATATATATAAATTATATATATATTATATATATATAAATTATATATAT ATTATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	272	0.0037	564	c.29 others(575): Show c.2990_*2991insAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATAAAAATTATATATATTATATATATAAAAATTATA TATATTATATATATAAAAATTATATATATATATTATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATATAAATTATATATATATTATATATATATATAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA ATTATATATATATTATATATATATATAAATTATATATATATTATATATAT ATAAATTATATATATATTATATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2312		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870265	A A	ACACCCCA others(557): Show ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCCCACACACACCACACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCCCACACACACCAC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	338	0.0030	564	c.35 others(583): Show c.35+21535_*35+21536insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCCCAC ACACACCACACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCCCACACACACCACACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870448	C C	CCTACACA others(557): Show CCTACACACCCCACACACACCACACACACCACACCCCACACACACCACAC CCCATACACACCACACCCCACACACACCACACCCCATACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCATACACACCACACCC CACACACACCACACCCCACACACACCACACCCCATACACACCACACACCC CACACACACCACACACCCCACACACACCACACCCCACACACACCACACCC CATACACACCACACCCCATACACACCACACCCCACACACACCACACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACACCCCACACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCA CACACACCACACAAA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	338	0.0030	564	c.35 others(583): Show c.35+21716_*35+21717insTACACACCCCACACACACCACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACCCCATACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCATACACACCACACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCATACACACCAC ACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACAAAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870448	C C	CCTACACA others(557): Show CCTACACACCCCACACACACCACACACACCACACCCCACACACACCACAC CCCATACACACCACACCCCACACACACCACACCCCATACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCATACACACCACACCC CACACACACCACACCCCACACACACCACACCCCATACACACCACACACCC CACACACACCACACACCCCACACACACCACACCCCACACACACCACACCC CATACACACCACACCCCATACACACCACACCCCACACACACCACACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACCCCATACACACCACACACCCCACACACACCACACACCC CACACACACCACACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCA CACACACCACACAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	338	0.0030	564	c.35 others(583): Show c.35+21716_*35+21717insTACACACCCCACACACACCACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACCCCATACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCATACACACCACACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCATACACACCAC ACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACAC ACCCCACACACACCACACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACAAAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(557): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATAATTATATATAATAATATATATTATATTATTATATATAATAATAATAT ATATATATTATTATATATAATTATATATAATAATATAATATATATTATTA TATATAATTATATATAATAATATAAATATATTATTATATATTATTATATA TAATAATATAATATATATTATATATTATTATATATAATAATATAATATAT ATTATATATTATATATAATAATATAATATATATTATTATATATTATTATA TATAATAATATAATATATATTATTATATATTATTATATATAATAATATAA TATATATTATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAATATAATATATATTATTATATATTATTATATATAATAATATA ATATATATTATTATATATAATAATATAATATATATTATTATATATTATTA TATATAATAATATAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	238	0.0042	564	c.392 others(581): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATATTATATTATTATAT ATAATAATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATAATATAT AATAATATATATTATATTATTATATATAATATATAATATATATTATATTA TTATATATAATAATATATAATATATATTATATTATTATATATAATAATAT ATAATAATATATTTATATTATTATATATAATTATATATAATAATATATAT TATATTATTATATATAATTATATATAATAATATATATATATTATTATTAT ATATAATAATATAATATATATTATTATATATAATTATATATAATAATATA TATTATATTATTATATATAATTATATATAATAATATATATTATATTATTA TATATAATAATATATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ULK1_chr12_131889622_131928150	131917306	G G	GTTCGGCT others(557): Show GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGCT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGG GCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGACGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGG CTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGA TGGGGGTCGGAGGCTGTGGGACGGGGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGCTCAAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0007 a0007	a0007c0029 a0007c0029	a0007c0029t0002 a0007c0029t0002	a0007c0029t0002g0314 a0007c0029t0002g0314	1	344	0.0029	564	c.218 others(581): Show c.2183-105_2183-104insTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGACGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGGATGGGGGTCGGAGGCTGTGGGTGGGGCTCGGAGGCTGTGGGA CGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGACGGGGCTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGA CGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGCTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCAAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(557): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCTCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	246	0.0041	564	c.-10 others(581): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCTCCTTCCCCCCTTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(557): Show CCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTT TCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTTC CCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTTC CCCCCTTTCCCCCTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0017 a0001c0001t0023g0017	1	246	0.0041	564	c.-10 others(581): Show c.-10-3217_-10-3216insTCCCCCTTCCCCCCTTCCCCCTTCCCCC TTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTT CCCCCCTCCCCCTTTCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCC CCCCTCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCC CCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(557): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATAACTATATTAAATATATAAATTATATAATATATATTATATATTGTA TATTATATAATTTATATAATATATTATATGTTATATAATATATATTATAT ATTGTATATATTATATTATATATTATATATTTTATATATCATATATAGTA TGCTATATAATATATATTTTTATATATTATATAGTATACTATATATTTTT ATATATTATATATAATATATATAATTATATATCATATATATTTATATAAT ATATGATATATAATATATATTATGTATTATATAATTATATAAAATATATC ATATATTATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATATTATAAAT AATATATTATATATTATAAATAATATATTATATATTATAAATAATATATT ATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02280.hp1 others(4): Show HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02559.hp1 HG02970.hp1 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0034 others(2): Show a0001c0001t0002 a0001c0001t0027 a0001c0001t0034 a0001c0001t0037 a0001c0001t0109	a0001c0001t0002g0086 a0001c0001t0002g0113 a0001c0001t0002g0119 others(4): Show a0001c0001t0002g0086 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0027g0258 a0001c0001t0034g0117 a0001c0001t0037g0118 a0001c0001t0109g0114	7	302	0.0232	564	c.-1- others(581): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATAACTATATTAAATATATAAATTATATAATA TATATTATATATTGTATATTATATAATTTATATAATATATTATATGTTAT ATAATATATATTATATATTGTATATATTATATTATATATTATATATTTTA TATATCATATATAGTATGCTATATAATATATATTTTTATATATTATATAG TATACTATATATTTTTATATATTATATATAATATATATAATTATATATCA TATATATTTATATAATATATGATATATAATATATATTATGTATTATATAA TTATATAAAATATATCATATATTATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATATTATATAT TATAAATAATATATTATATATTATATTATATATTATAAATAATATATTAT ATATTATATTATAAATAATATATTATATATTATAAATAATATATTATATA TTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF365_chr10_62369369_62407450	62370977	T T	TCACATAT others(557): Show TCACATATGTGATATATATCATATCACATATCATATGACATATATCACAT ATCACATATCACATATCACATATCACATATCATATGCTATATATCACATG TGATATATAGCATATGTGATATATATCATATATATCACATATGATATATA GCATATGTGATATATATCATATATATCACATGATATATAGCATATGTGAT ATATATCATATATATCACATATGATATATAGCATACGTGATATATAACAT ATATATCATATATGATGTATAGCATGATATATATGCTATATATCACATGT GATATATATGCTATATATCACATGTGATATATAGCATATATATCACATGT GATATATAGCATATATATCACATGTGATATATAGCATATATATCACATGT GATATATAGCATATATATCACATGTGATATATAGCATATATATCATATGT GATATATAGCATATATATCACATGTGATATATAGCATATGTGATATATAT GATATATATGATATATATCATATATGATATATATGATATATATCACATAT ATATGATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	350	0.0029	564	c.-34 others(575): Show c.-3495_-3494insCACATATGTGATATATATCATATCACATATCATA TGACATATATCACATATCACATATCACATATCACATATCACATATCATAT GCTATATATCACATGTGATATATAGCATATGTGATATATATCATATATAT CACATATGATATATAGCATATGTGATATATATCATATATATCACATGATA TATAGCATATGTGATATATATCATATATATCACATATGATATATAGCATA CGTGATATATAACATATATATCATATATGATGTATAGCATGATATATATG CTATATATCACATGTGATATATATGCTATATATCACATGTGATATATAGC ATATATATCACATGTGATATATAGCATATATATCACATGTGATATATAGC ATATATATCACATGTGATATATAGCATATATATCACATGTGATATATAGC ATATATATCATATGTGATATATAGCATATATATCACATGTGATATATAGC ATATGTGATATATATGATATATATGATATATATCATATATGATATATATG ATATATATCACATATATATGATATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3391		chr10	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(558): Show TGGGATGGATAAATGAGTGGGTGGGATAGATAAATGAGGGGGTGGGATGG ATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGG GTGGGATGGCTAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGTGG GATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATA AATGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTG GGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGAT GGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAAT GGGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGAGTGGGT GGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGC TAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGG TGGGTGGGATGGCTAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	357	0.0028	565	c.278 others(582): Show c.2787+965_2787+966insTTAGCCATCCCACCCACCCATTTATCCA TCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCC ACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTT ATCCATCCCACCCACCCATTTATCCATCCCACCCACCCATTTATCCATCC CACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACCCACT CATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATC CATCCCACCCACTCATTTATCCATCCATCCCACCCATTTATCCATCCCAC CCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCAT TTATCCATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTAG CCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCA CCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCACCCC CTCATTTATCTATCCCACCCACTCATTTATCCATCCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ADAMTS2_chr5_179105853_179350461	179277953	C C	CGCCCCCG others(558): Show CGCCCCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACAC CCCCCGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCC GTGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCG AGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGA CCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAA AGGCTGACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGC TGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCC CCCCGAGACCAAAGGCTGACCCCCCCCCCCGAGACCAAAGGCTGACCCCC CACCCGAGACCAAAGGCTGACACCCCCCAGAGACCAAAGGCTGACCCCCC CGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0105 a0003c0105	a0003c0105t0012 a0003c0105t0012	a0003c0105t0012g0209 a0003c0105t0012g0209	1	276	0.0036	565	c.535 others(582): Show c.535-4890_535-4889insTCAGCCTTTGGTCTCGGGGGGGTCAGCC TTTGGTCTCTGGGGGGTGTCAGCCTTTGGTCTCGGGTGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTT TGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGT CTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTC GCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGG GGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGCGG GGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGG TCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTC AGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCACGGGGGGGTCAGC CTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTT GGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(558): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGGAGGGGGAGGAGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGA GGAGGGGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAGGGGGG GAGGAGGAGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAG GAGGAGGGGGAGGAGGAGGGGGGGGAGGAGGAGGGGGGGAGGAGGAGGGG GAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGA GGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAG GGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGG GGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	301	0.0033	565	c.125 others(586): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCC CTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCTCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC CCTCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTC CTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCTCCTC CCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTC CCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTC CTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(558): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGGAGGGGGAGGAGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGA GGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGAGGGGGGGAG GAGGAGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAG GAGGGGGGGGAGGAGGAGGGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGG GAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGA GGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAG GGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGG GGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0277	1	301	0.0033	565	c.125 others(586): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCC CTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCC CCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCC CTCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTC CTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCTCCTC CCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTC CCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTC CTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(558): Show GGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCC ACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCTGTGACCACA CACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGG TGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACAC TAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCA CACATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAG CACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCG TGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01978.hp1 HG02055.hp1 others(1): Show HG01167.hp2 HG01978.hp1 HG02055.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0212 others(1): Show a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0002t0001g0200	4	246	0.0163	565	c.-18 others(576): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTG GGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGC CAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGT GGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACAGGGGTGGG AAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCA GTGTGTGGTCACGGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar

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Search Results (Total: 10000 hits)