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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GPRIN1_chr5_176590802_176615156	176591689	A A	ATGATGGT others(500): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGAT GACGATGGTGGTGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	397	0.0025	507	c.51 others(518): Show c.5118_*5119insCCATCACAACCATCACCATCACCTCAACACCAAC ACCACCACCACCACCACCATCGTCATCATCACCATCATCACCACCATCAC CATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCAT CACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCAC CATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCAC CACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCAT CACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCAT CATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACAC CATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAA CACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACAC CAACACCATCATCACCACCATCA		GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding					4112		chr5	TogoVar
ICA1_chr7_8108184_8267167	8152787	A A	ACCTCCTC others(500): Show ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCAT CACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCA CCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAAC ACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCAT CTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCACCA CTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACC ACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCAC CATCACCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG02965.hp1 others(1): Show HG02717.hp1 HG02723.hp2 HG02965.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0002g0104 a0001c0001t0003g0093 a0001c0001t0003g0213 others(1): Show a0001c0001t0002g0104 a0001c0001t0003g0093 a0001c0001t0003g0213 a0001c0002t0002g0255	4	274	0.0146	507	c.804 others(524): Show c.804+4328_804+4329insAGGTGATGGTGATGGTGATAGTGGTGGG GGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGG AGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATG GTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGA GGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGG TGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAG GAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGT AGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGA TAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGGTG ATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGT TGTGGTGGTGGTGGTGATGGTGGAGGAGG		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13						chr7	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(500): Show TCCACCACCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCAC TACCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCATCACCA CTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCATC TCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCAC CACCACCACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCATCA CCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACC ACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTC CTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTA CCCCCACCACTATCACCATCACCTCCTCCACCATCACCACCACCACCACC ACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCTCCTC CACCATCA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	274	0.0037	507	c.804 others(524): Show c.804+4319_804+4320insTGATGGTGGAGGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGTGGTGATGG TGGAGGAGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATG GTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGT GGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGG TGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGG GTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGT GATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTT GAAGGAGATGGTGGTGGTGGTGGTGGTGG		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13						chr7	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(500): Show CCTCCTCCCCCCACCCACCCCCTCCCCTCTCCTCCCCCCAACCACCCTGT CCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCC CCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCACCTCCCCCC TCCTCCCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	252	0.0040	507	c.10- others(524): Show c.10-16129_10-16128insCCCCACCCACCCCCTCCCCTCTCCTCCC CCCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCCTCCTCCCCCTCCT CCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTC CCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTC CCCCACCTCCCCCCTCCTCCCACTCCTCC		IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(500): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCT CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCC CCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCACCTCCCCCC TCCTCCCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03688.hp2 HG03209.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0214 a0001c0001t0001g0065 a0001c0001t0001g0214	2	252	0.0079	507	c.10- others(524): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCT CCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTC CCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTC CCCCACCTCCCCCCTCCTCCCACTCCTCC		IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(500): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCC CACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCC TCCTCCCA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp1 NA20129.hp2 HG02717.hp1 HG02723.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0098 a0001c0002t0001g0117 a0001c0001t0001g0019 a0001c0001t0001g0098 a0001c0002t0001g0117	3	252	0.0119	507	c.10- others(524): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCC CTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTC CCCCACCTCCCCCCTCCTCCCACTCCTCC		IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(500): Show CCTCCTCCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGT CCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCCTCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCT CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCC CCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCACCTCCCCCC TCCTCCCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	252	0.0040	507	c.10- others(524): Show c.10-16129_10-16128insCCCCCACCCACCCCTCCCCTCTCCTCCC CCCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCCTC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCT CCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTC CCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTC CCCCACCTCCCCCCTCCTCCCACTCCTCC		IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(500): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCA GGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAG GGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTC AGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGG GAGGCGGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0190 a0002c0001t0003g0190	1	282	0.0036	507	c.623 others(524): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCG GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGG GGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGC TCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCGGGGGGAGGCGGGGG		IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CCTCTCTC others(500): Show CCTCTCTCTCTCCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCC TCCCCCTCTCTCTCCCCCCTCCCCCCTCTCTGTCCCCCTCCCCCCCTCTC TCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCC TCCCCTCCCCCCTCTCTCTCCCCCTCCCCTCCCCCCCTCTCTCTCCCCCT CCCCTCCCCCCTCTCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCC CCTCCCCCTCCCCTCCCCCTCCCCCCCATCCCCCTCCCCCTCATCCCCCC TCCCCCTCCTTCCCCTCTCCCCCTCCCCTCCTTCCCTCTCTCCCCCCCCT CCTTCCCCTCTCTCTCTCTCCCCCCCCCTTCCCTCTCTCTCCCCCCCCCT CCTTCCCTCTCTCTCCCCCCCCTCCTTCCTCTCTCTCTCTCTCCCCCCTC CTTCCCTCTGTCTCTCTCCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCT TCCCCCTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0019 a0002c0005t0019	a0002c0005t0019g0138 a0002c0005t0019g0138	1	158	0.0063	507	c.11 others(528): Show c.1103+4093_*1103+4094insCTCTCTCTCTCCCCCCTCCCCCTC CTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCCTCCCCC CTCTCTGTCCCCCTCCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCC CCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCT CCCCTCCCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCCCTCCCCCCT CTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCTCCCCCTCCCCC CCATCCCCCTCCCCCTCATCCCCCCTCCCCCTCCTTCCCCTCTCCCCCTC CCCTCCTTCCCTCTCTCCCCCCCCTCCTTCCCCTCTCTCTCTCTCCCCCC CCCTTCCCTCTCTCTCCCCCCCCCTCCTTCCCTCTCTCTCCCCCCCCTCC TTCCTCTCTCTCTCTCTCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCC TTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23						chr10	TogoVar
KIF25_chr6_167992671_168050091	167997290	T T	TGGGGGAA others(500): Show TGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCG GGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGA GATGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0336 a0003c0004t0005g0336	1	375	0.0027	507	c.-21 others(518): Show c.-2179_-2178insGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGA GGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGC GGGGGAATCTGCAGAGATGGGGG		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					380		chr6	TogoVar
LAMA1_chr18_6936742_7122797	6952910	G G	GCCATGGG others(500): Show GCCATGGGAGCCATGTCTGCCTGTGTCCAGTGGATCCACACCATGAGAGC CATGTCTGCCTGTGTCCAGTGGATCCACACCATGGGAGCCATGTCTGCCT GTGTCTGGCGGATCCACGCCATGGGAGCCATGTCTGCCTGTGTCCAGTGG ATCCACCCCATGGGAGCCATGTCTGCCTATGTCCGGCGGATCCACGCCAT GGGAGCCATGTCTGCCCGTGTCCAGTGGATCCACGCCATAGGAGCCATGT CTGCCTGTGTCCAGTGGATCCACGCCATGGGAGCCATGTCTGCCCGTGTC CAGCGGATCCACGCCATGGGAGCCATGTCTGCCCGTGTCCAGTGGATCCA CACCATGGGAGCCATGTCTGCCCGTGTCCAGTGGATCCACGCCATAGGAG CCATGTCTGCCTGTGTCCAGCGGATCCACGCCATGGGAGCCATGTCTGCC TGTGTCCAGCAGATCCACGCCATGGGAGCCATGTCTGCCTGTGTCCAGTG GATCCACA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp1 HG02818.hp2 others(1): Show HG01106.hp1 HG02257.hp1 HG02818.hp2 HG03130.hp2	a0007 a0012 a0042 others(1): Show a0007 a0012 a0042 a0121	a0007c0132 a0012c0128 a0042c0209 others(1): Show a0007c0132 a0012c0128 a0042c0209 a0121c0049	a0007c0132t0001 a0012c0128t0001 a0042c0209t0001 others(1): Show a0007c0132t0001 a0012c0128t0001 a0042c0209t0001 a0121c0049t0001	a0007c0132t0001g0272 a0012c0128t0001g0180 a0042c0209t0001g0195 others(1): Show a0007c0132t0001g0272 a0012c0128t0001g0180 a0042c0209t0001g0195 a0121c0049t0001g0206	4	278	0.0144	507	c.820 others(526): Show c.8208-1940_8208-1939insTGTGGATCCACTGGACACAGGCAGAC ATGGCTCCCATGGCGTGGATCTGCTGGACACAGGCAGACATGGCTCCCAT GGCGTGGATCCGCTGGACACAGGCAGACATGGCTCCTATGGCGTGGATCC ACTGGACACGGGCAGACATGGCTCCCATGGTGTGGATCCACTGGACACGG GCAGACATGGCTCCCATGGCGTGGATCCGCTGGACACGGGCAGACATGGC TCCCATGGCGTGGATCCACTGGACACAGGCAGACATGGCTCCTATGGCGT GGATCCACTGGACACGGGCAGACATGGCTCCCATGGCGTGGATCCGCCGG ACATAGGCAGACATGGCTCCCATGGGGTGGATCCACTGGACACAGGCAGA CATGGCTCCCATGGCGTGGATCCGCCAGACACAGGCAGACATGGCTCCCA TGGTGTGGATCCACTGGACACAGGCAGACATGGCTCTCATGGTGTGGATC CACTGGACACAGGCAGACATGGCTCCCATGG		LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	57/62						chr18	TogoVar
LAMA1_chr18_6936742_7122797	6952910	G G	GCCATGGG others(500): Show GCCATGGGAGCCATGTCTGCCTGTGTCCAGTGGATCCACACCATGAGAGC CATGTCTGCCTGTGTCCAGTGGATCCACACCATGGGAGCCATGTCTGCCT GTGTCTGGCGGATCCACGCCATGGGAGCCATGTCTGCCTGTGTCCAGTGG ATCCACCCCATGGGAGCCATGTCTGCCTATGTCCGGCGGATCCACGCCAT GGGAGCCATGTCTGCCCGTGTCCAGTGGATCCACGCCATAGGAGCCATGT CTGCCTGTGTCCAGTGGATCCACGCCATGGGAGCCATGTCTGCCCGTGTC CAGCGGATCCACGCCATGGGAGCCATGTCTGCCCGTGTCCAGTGGATCCA CACCATGGGAGCCATGTCTGCCCGTGTCCAGTGGATCCACGCCATAGGAG CCATGTCTGCCTGTGTCCAGTGGATCCACGCCATGGGAGCCATGTCTGCC TGTGTCCAGCAGATCCACGCCATGGGAGCCATGTCTGCCTGTGTCCAGTG GATCCACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02622.hp2 others(2): Show HG01884.hp2 HG02451.hp2 HG02622.hp2 HG02818.hp1 HG02965.hp1	a0003 a0004 a0097 others(1): Show a0003 a0004 a0097 a0103	a0003c0105 a0004c0011 a0097c0178 others(1): Show a0003c0105 a0004c0011 a0097c0178 a0103c0033	a0003c0105t0001 a0004c0011t0001 a0097c0178t0002 others(1): Show a0003c0105t0001 a0004c0011t0001 a0097c0178t0002 a0103c0033t0002	a0003c0105t0001g0262 a0004c0011t0001g0193 a0004c0011t0001g0265 others(2): Show a0003c0105t0001g0262 a0004c0011t0001g0193 a0004c0011t0001g0265 a0097c0178t0002g0090 a0103c0033t0002g0115	5	278	0.0180	507	c.820 others(526): Show c.8208-1940_8208-1939insTGTGGATCCACTGGACACAGGCAGAC ATGGCTCCCATGGCGTGGATCTGCTGGACACAGGCAGACATGGCTCCCAT GGCGTGGATCCACTGGACACAGGCAGACATGGCTCCTATGGCGTGGATCC ACTGGACACGGGCAGACATGGCTCCCATGGTGTGGATCCACTGGACACGG GCAGACATGGCTCCCATGGCGTGGATCCGCTGGACACGGGCAGACATGGC TCCCATGGCGTGGATCCACTGGACACAGGCAGACATGGCTCCTATGGCGT GGATCCACTGGACACGGGCAGACATGGCTCCCATGGCGTGGATCCGCCGG ACATAGGCAGACATGGCTCCCATGGGGTGGATCCACTGGACACAGGCAGA CATGGCTCCCATGGCGTGGATCCGCCAGACACAGGCAGACATGGCTCCCA TGGTGTGGATCCACTGGACACAGGCAGACATGGCTCTCATGGTGTGGATC CACTGGACACAGGCAGACATGGCTCCCATGG		LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	57/62						chr18	TogoVar
LAMA1_chr18_6936742_7122797	6952910	G G	GCCATGGG others(500): Show GCCATGGGAGCCATGTCTGCCTGTGTCCAGTGGATCCACACCATGAGAGC CATGTCTGCCTGTGTCCAGTGGATCCACACCATGGGAGCCATGTCTGCCT GTGTCTGGCGGATCCACGCCATGGGAGCCATGTCTGCCTGTGTCCAGTGG ATTCACCCCATGGGAGCCATGTCTGCCTATGTCCGGCGGATCCACGCCAT GGGAGCCATGTCTGCCTGTGTCCAGTGGATCCACGCCATAGGAGCCATGT CTGCCTGTGTCCAGTGGATCCACGCCATGGGAGCCATGTCTGCCTGTGTC CAGCGGATCCACGCCATGGGAGCCATGTCTGCCCGTGTCCAGTGGATCCA CACCATGGGAGCCATGTCTGCCCGTGTCCAGTGGATCCACGCCATAGGAG CCATGTCTGCCTGTGTCCAGTGGATCCACGCCATGGGAGCCATGTCTGCC TGTGTCCAGCAGATCCACGCCATGGGAGCCATGTCTGCCTGTGTCCAGTG GATCCACA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01891.hp2 HG02055.hp2 others(4): Show HG01175.hp2 HG01891.hp2 HG02055.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp1 NA20300.hp1	a0012 a0035 a0045 others(4): Show a0012 a0035 a0045 a0055 a0071 a0118 a0120	a0012c0141 a0035c0211 a0045c0055 others(4): Show a0012c0141 a0035c0211 a0045c0055 a0055c0168 a0071c0166 a0118c0036 a0120c0050	a0012c0141t0001 a0035c0211t0001 a0045c0055t0001 others(4): Show a0012c0141t0001 a0035c0211t0001 a0045c0055t0001 a0055c0168t0001 a0071c0166t0001 a0118c0036t0003 a0120c0050t0001	a0012c0141t0001g0270 a0035c0211t0001g0277 a0045c0055t0001g0171 others(4): Show a0012c0141t0001g0270 a0035c0211t0001g0277 a0045c0055t0001g0171 a0055c0168t0001g0239 a0071c0166t0001g0172 a0118c0036t0003g0127 a0120c0050t0001g0254	7	278	0.0252	507	c.820 others(526): Show c.8208-1940_8208-1939insTGTGGATCCACTGGACACAGGCAGAC ATGGCTCCCATGGCGTGGATCTGCTGGACACAGGCAGACATGGCTCCCAT GGCGTGGATCCACTGGACACAGGCAGACATGGCTCCTATGGCGTGGATCC ACTGGACACGGGCAGACATGGCTCCCATGGTGTGGATCCACTGGACACGG GCAGACATGGCTCCCATGGCGTGGATCCGCTGGACACAGGCAGACATGGC TCCCATGGCGTGGATCCACTGGACACAGGCAGACATGGCTCCTATGGCGT GGATCCACTGGACACAGGCAGACATGGCTCCCATGGCGTGGATCCGCCGG ACATAGGCAGACATGGCTCCCATGGGGTGAATCCACTGGACACAGGCAGA CATGGCTCCCATGGCGTGGATCCGCCAGACACAGGCAGACATGGCTCCCA TGGTGTGGATCCACTGGACACAGGCAGACATGGCTCTCATGGTGTGGATC CACTGGACACAGGCAGACATGGCTCCCATGG		LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	57/62						chr18	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(500): Show GGAAAAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGAAGGAAGGGAGGGGA GGGAGGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGA AGGGAGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGA AGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAG GAGGGAGGTGGAAGGAAGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAG GGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAA AGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAGG GAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAG GGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGA AGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAG GGAAAGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0029 a0029	a0029c0045 a0029c0045	a0029c0045t0002 a0029c0045t0002	a0029c0045t0002g0006 a0029c0045t0002g0006	1	88	0.0114	507	c.507 others(526): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGGAGGGAGGGAG GGGAGGGAAGGAAGGGAGGGGAGGGAGGAAAAAGGAAGGAAGGAAGGAGG GTAAGGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGA AGGGAGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGA GGGAAGAAGGGAGGAAGGGAAGGAGGGAGGTGGAAGGAAGGAAGGAAGGA AGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGA GGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAA AGGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGG AAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAG GGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGG GGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LINGO2_chr9_27932617_29218601	28189533	G G	GAGGAAGG others(500): Show GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGAAGGAAGG GAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGAAGGGAGGAA GGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGG AAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGG AAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGA GGAAGGAAGGGAGGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGG GAGGAAGGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGG AGGGAGGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAA GGGAGGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	1	62	0.0161	507	c.-36 others(528): Show c.-36+105674_-36+105675insTCCCTCCCTTCCTTCCTCCCTCCC TTCCTTCCTCCCTCCCTTCCTTCCTCCCCTCCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTCCCTCCCTTCCTTCCCTTCCTCCCTCCCTTCCTTCCTC CCTTCCTTCCTTCCTTTCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCC TCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTC CCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCC TCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTCCC TTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTC TCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCC TCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT		LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6						chr9	TogoVar
LRRC27_chr10_132327193_132386508	132364373	C C	CCACGCTT others(500): Show CCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACGCTTACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACCCTTAC ATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACCACACCCATGACCACACCCACACTTACA TCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACC CACGCTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCA CCCACACTTACACCCACGCTTACATCTACCTCCACACCCACGCTTACACC CACCCTTACATCTACCTCCACACCCGCACTTACACCCACGCTTACATCTA CCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTACATC TACCTCCA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0234 a0001c0002t0003g0234	1	290	0.0035	507	c.129 others(526): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC GCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC GCACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACCACACCCA TGACCACACCCACACTTACATCTACCTCCACACCCGCGCTTACACCCACG CTTACATCTACCTCCACACCCACGCTTACACCCACGCTTACATCTACCTC CACACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACC TCCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCGCACT TACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACACTTACATCTACCTCCACAC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC56_chr11_532527_559912	542117	A A	ACCCCACA others(500): Show ACCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTACCCCACACAC CCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTA CCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCACG CTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCC ACACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACCCACG CCAGTACCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTACCCCC GGCACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCACGCTCAG TGCCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACA CCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGT ACCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCAC GCTCAGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0033 a0014c0020t0033	a0014c0020t0033g0056 a0014c0020t0033g0056	1	387	0.0026	507	c.265 others(522): Show c.265+531_265+532insACCCCACACACCCACGCCAGTACCCCCGGC ACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTGC CCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACCC ACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTACC CCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCACGCT CAGTGCCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCAC ACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACCCACGCC AGTACCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGG CACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTG CCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACC CACGCCAGTACCCCCGGCACGCTCAGT		LRRC56	ENSG00000161328.11	transcript	ENST00000270115.8	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
MBP_chr18_76973833_77137783	77117893	G G	GGGGTCAG others(500): Show GGGGTCAGTGGGTTGGGGTGGGACAGGGACAGGGGGTTGGGGCGGGATGG GGGACAGGGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGGG GACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGGATGGGGA CAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGAC AGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGACA GTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGT GGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGG GTTGGAGTGGGATGGGGACAGTGGGTTGGGGTGGGACGGGGACAGGGGGT TGGGGCGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTT GGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGG GGCGGGAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	396	0.0025	507	c.-25 others(526): Show c.-25-12608_-25-12607insATCCCGCCCCAACCCACTGTCCCCAT CCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCC CACCCCAACCCACTGTCCCCCATCCCGCCCCAACCCCCTGTCCCCGTCCC ACCCCAACCCACTGTCCCCATCCCACTCCAACCCACTGTCCCCATCCCGC CCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCC CAACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCA ACCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAA CCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAAC CCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCC ACTGTCCCCATCCCACCCCAACCCCCTGTCCCCCATCCCGCCCCAACCCC CTGTCCCTGTCCCACCCCAACCCACTGACCC		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8						chr18	TogoVar
MBP_chr18_76973833_77137783	77117893	G G	GGGGTCAG others(500): Show GGGGTCAGTGGGTTGGGGTGGGACAGGGACAGGGGGTTGGGGCGGGATGG GGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGG GACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGGATGGGGA CAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGAC AGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGACA GTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGT GGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGG GTTGGAGTGGGATGGGGACAGTGGGTTGGGGTGGGACGGGGACAGGGGGT TGGGGCGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTT GGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGG GGCGGGAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18972.hp1 NA18992.hp2 others(3): Show NA18961.hp1 NA18972.hp1 NA18992.hp2 NA18995.hp1 NA19004.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 others(2): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0002t0002 a0001c0002t0019	a0001c0001t0006g0285 a0001c0001t0014g0284 a0001c0001t0016g0372 others(3): Show a0001c0001t0006g0285 a0001c0001t0014g0284 a0001c0001t0016g0372 a0001c0002t0002g0287 a0001c0002t0002g0297 a0001c0002t0019g0286	6	396	0.0152	507	c.-25 others(526): Show c.-25-12608_-25-12607insATCCCGCCCCAACCCACTGTCCCCAT CCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCC CACCCCAACCCACTGTCCCCCATCCCGCCCCAACCCCCTGTCCCCGTCCC ACCCCAACCCACTGTCCCCATCCCACTCCAACCCACTGTCCCCATCCCGC CCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCC CAACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCA ACCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAA CCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAAC CCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCC ACTGTCCCCATCCCGCCCCAACCCACTGTCCCCCATCCCGCCCCAACCCC CTGTCCCTGTCCCACCCCAACCCACTGACCC		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8						chr18	TogoVar
MBP_chr18_76973833_77137783	77117893	G G	GGGGTCAG others(500): Show GGGGTCAGTGGGTTGGGGTGGGACAGGGACAGGGGGTTGGGGCGGGATGG GGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGGG GACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGGATGGGGA CAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGAC AGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGACA GTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGT GGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGG GTTGGAGTGGGATGGGGACAGTGGGTTGGGGTGGGACGGGGACAGGGGGT TGGGGCGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTT GGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGG GGCGGGAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0323 a0001c0001t0006g0323	1	396	0.0025	507	c.-25 others(526): Show c.-25-12608_-25-12607insATCCCGCCCCAACCCACTGTCCCCAT CCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCC CACCCCAACCCACTGTCCCCCATCCCGCCCCAACCCCCTGTCCCCGTCCC ACCCCAACCCACTGTCCCCATCCCACTCCAACCCACTGTCCCCATCCCGC CCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCC CAACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCA ACCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAA CCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAAC CCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCC ACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCGCCCCAACCCC CTGTCCCTGTCCCACCCCAACCCACTGACCC		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8						chr18	TogoVar
MCF2L2_chr3_183173041_183433619	183314931	T T	TGAGACAG others(500): Show TGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGAT CTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGTA ATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGT CTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGC TGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTCT AATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAAA TATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAAG ATAACAAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCAC AAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTTG TTTGTTTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0126 a0014c0012t0001g0126	1	176	0.0057	507	c.753 others(524): Show c.753+3136_753+3137insCAAACAAACAAACAAAAAACAAACCAAA AAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATTGTCC TAATTCAAATCTGATTTCTTTGTTTGTTATCTTGTAGCTTAGAAGCAAGA ATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATCCAAA AATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATACTGGC CAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGC GGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACACGGA GAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGGTGCA TGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAA CCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACTCCAG CCTGGGCAACAAGAGTGAAATTCTGTCTC		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29						chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183314935	T T	TGAGACAG others(500): Show TGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGAT CTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGTA ATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGT CTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGC TGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTCT AATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAAA TATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAAG ATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCAC AAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTTG TTTGTTTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	176	0.0057	507	c.753 others(524): Show c.753+3132_753+3133insCAAACAAACAAACAAAAAACAAACCAAA AAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATTGTCC TAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGCAAGA ATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATCCAAA AATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATACTGGC CAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGC GGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACACGGA GAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGGTGCA TGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAA CCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACTCCAG CCTGGGCAACAAGAGTGAAATTCTGTCTC		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29						chr3	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(500): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATTAA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATTATATATAATATATATACATATTACATATATTATATATAATAT ATATACATATATAATATATTATATATTATATATAATATATATAATATATA ATATATATATAATATAATATATTATATATTATATATAATATATATAATAT ATAATATATTATATATTATATATAATATATATAATATATAAATATATTAT ATAATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0298	1	332	0.0030	507	c.262 others(526): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATTAATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATTATATATAATATATATACAT ATTACATATATTATATATAATATATATACATATATAATATATTATATATT ATATATAATATATATAATATATAATATATATATAATATAATATATTATAT ATTATATATAATATATATAATATATAATATATTATATATTATATATAATA TATATAATATATAAATATATTATATAATATA		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19						chr1	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATATACAT others(500): Show ATATACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTA TATATATTTTATATACATAAAATCTTATTTTATATATATTTTATATACAT AAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTATATA TATTTTATATACATAAAATCTTATTTTATATATATTTTATACATAAAATC TTATTTTATATATATTTTATATATAAAATCTTATTTTATATATATTTTAT ATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATATAAA ATCTTTATATATATTTTATATATATAAAATCTTTATATATATTTTATATA TATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTAT ATATATTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	330	0.0030	507	c.-5+ others(522): Show c.-5+3002_-5+3003insAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGAT TTTATATATATAAAATATATATAAAGATTTTATATATATAAAATATATAT AAAATATATATAAAATAAGATTTTATATATAAAATATATATAAAATAAGA TTTTATATATAAAATATATATAAAATAAGATTTTATGTATAAAATATATA TAAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGT ATATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAA ATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATAT AAAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAA GATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAA TATATATAAAATAAGATTTTATGTATA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MUC6_chr11_1007823_1041718	1018170	G G	GTGGTGGT others(500): Show GTGGTGGTAGAATTTGTGGTGATTTCTGGATGGTGTGTGGAGGAAGCATG GGAGAGGAGGGATGTAGAGGTTTTGGCTGTGCTGAAGGAGCTGTGGACTT GGCTGGTCCTACTGGTGGTCACTGTTATTAGTGGGGCTGTGTGTGTGGAC CCTGTGGCCATGAGCGTTGTCAGTGGAGGAATGGTGCCTGTTGACGTTGA GTGGTTGGAGGCAGAAGTGGACATCTGTGGGTGGGTTGGGGTGATGACTG TGTGAGTACTTGGAGTCACCGATGAGGTGGAGAAAGGTGGAACATGAATG GGAAGTGTGATGTGAGCTTGTGATGGGGTTGGATAGGTAGTGGTGGTCTT GAGAGATGTTGCAGTCATACGACCTGTGGAAGAGAGGGGACTGCTCCTGG TAGGTGAAGAGTGTGTTGTGATGGGTGTGGGTGGCCTGCTACTGGTGGCC GAGGTGGTGTGGGTCACAGGGGTGCTGGTGCCTCTACTGGTGGACTTGGG AGTCACGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03831.hp1 HG03831.hp1	a0128 a0128	a0128c0110 a0128c0110	a0128c0110t0001 a0128c0110t0001	a0128c0110t0001g0123 a0128c0110t0001g0123	1	406	0.0025	507	c.463 others(516): Show c.4630_4631insACGTGACTCCCAAGTCCACCAGTAGAGGCACCAGCA CCCCTGTGACCCACACCACCTCGGCCACCAGTAGCAGGCCACCCACACCC ATCACAACACACTCTTCACCTACCAGGAGCAGTCCCCTCTCTTCCACAGG TCGTATGACTGCAACATCTCTCAAGACCACCACTACCTATCCAACCCCAT CACAAGCTCACATCACACTTCCCATTCATGTTCCACCTTTCTCCACCTCA TCGGTGACTCCAAGTACTCACACAGTCATCACCCCAACCCACCCACAGAT GTCCACTTCTGCCTCCAACCACTCAACGTCAACAGGCACCATTCCTCCAC TGACAACGCTCATGGCCACAGGGTCCACACACACAGCCCCACTAATAACA GTGACCACCAGTAGGACCAGCCAAGTCCACAGCTCCTTCAGCACAGCCAA AACCTCTACATCCCTCCTCTCCCATGCTTCCTCCACACACCATCCAGAAA TCACCACAAATTCTACCACCA	p.Thr others(522): Show p.Thr1543_Thr1544insAsnValThrProLysSerThrSerArgGly ThrSerThrProValThrHisThrThrSerAlaThrSerSerArgProPr oThrProIleThrThrHisSerSerProThrArgSerSerProLeuSerS erThrGlyArgMetThrAlaThrSerLeuLysThrThrThrThrTyrPro ThrProSerGlnAlaHisIleThrLeuProIleHisValProProPheSe rThrSerSerValThrProSerThrHisThrValIleThrProThrHisP roGlnMetSerThrSerAlaSerAsnHisSerThrSerThrGlyThrIle ProProLeuThrThrLeuMetAlaThrGlySerThrHisThrAlaProLe uIleThrValThrThrSerArgThrSerGlnValHisSerSerPheSerT hrAlaLysThrSerThrSerLeuLeuSerHisAlaSerSerThrHisHis ProGluIleThrThrAsnSerThrThr	MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding	31/33	4693/8016	4630/7320	1544/2439			chr11	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(500): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATTATATATTATATATATTATAATATATAATATATAT TATATATTATATATATTATAATATATAATATATATAATATATATTATATA TTATATATATATAATATATAATATATATTATATATAAATATATAATATAT AATATATTATATATATATATTATATAATATATAATATATTATATATATTA TATAATATATTGTATATTATATAATATATATTATATATAAATATATAATA TATAATATAATATATAATATATTATATATAATATATTATATATTATATAT ATTATATTATATATATTATATTATATATAATATATTATATATAATATATT ATATATTATATATTTATATATAATATATATATAATATATATTATATATTA TATAATATATAATATATTATATATTATATAATATATATAATATATTATAT AATATATA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0138 a0002c0002t0007g0138	1	348	0.0029	507	c.48+ others(522): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATTATATATTATATATAT TATAATATATAATATATATTATATATTATATATATTATAATATATAATAT ATATAATATATATTATATATTATATATATATAATATATAATATATATTAT ATATAAATATATAATATATAATATATTATATATATATATTATATAATATA TAATATATTATATATATTATATAATATATTGTATATTATATAATATATAT TATATATAAATATATAATATATAATATAATATATAATATATTATATATAA TATATTATATATTATATATATTATATTATATATATTATATTATATATAAT ATATTATATATAATATATTATATATTATATATTTATATATAATATATATA TAATATATATTATATATTATATAATATATAATATATTATATATTATATAA TATATATAATATATTATATAATATATA		NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3						chr21	TogoVar
NFILZ_chr19_8625633_8686151	8656359	A A	AAGCCCAC others(500): Show AAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCT CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACC TCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGCAGCCCAC CTTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCCTGCAGCCC ACCTTCTCTCTGAAACCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAG CCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTG CAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTC CTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTC TCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCT TCTCCTGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0268 a0002c0002t0002g0268	1	366	0.0027	507	c.-16 others(528): Show c.-163-18183_-163-18182insCTTCCCTGAAGCCCACCTTCTCCT GCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCT CCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTT CTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACC TTCTCCTGCAGCCCACCTTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAACCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCC TGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCT CCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTT CTCCTGCAGCCCACCTTCTCCTGCAGCCCACCT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(500): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGAGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGAGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0026 a0001c0040t0026	a0001c0040t0026g0058 a0001c0040t0026g0058	1	324	0.0031	507	c.140 others(524): Show c.140+8190_140+8191insACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCTCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTG CCCCGGGAGGGATCCTGAGTGCTCCCCCC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(500): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATAGTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATATAATATATATTATATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT AATATATATTATATATAAAGTATATATATAATATATATTATATATAAAGT ATATATATAATATATATTATATATATATAAAATATATAATATATATTATA TATATAAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0229 a0001c0003t0003g0229	1	308	0.0033	507	c.730 others(524): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATATAATATATATTATATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAC TATATATTATATATATTATATATATACTTTATATATAATATATATTATAT ATATTATATATATACTTTATATATAATATATATTATATATATTATATATA TACTTTATATATATAATATATATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(500): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATATAATATATATTATATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT AATATATATTATATATAAAGTATATATATAATATATATTATATATAAAGT ATATATATAATATATATTATATATATATAAAATATATAATATATATTATA TATATAAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0302 a0001c0003t0006g0302	1	308	0.0033	507	c.730 others(524): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATATAATATATATTATATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATAATATATATTATAT ATATTATATATATACTTTATATATAATATATATTATATATATTATATATA TACTTTATATATATAATATATATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(500): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATAAAGTATATATATAATATATATAATATATATTATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATATAATATATATTATATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT AATATATATTATATATAAAGTATATATATAATATATATTATATATAAAGT ATATATATAATATATATTATATATATATAAAATATATAATATATATTATA TATATAAG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0003 a0008c0026t0003	a0008c0026t0003g0244 a0008c0026t0003g0244	1	308	0.0033	507	c.730 others(524): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATATAATATATATTATATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATAATA TATATTATATATATTATATATATACTTTATATATAATATATATTATATAT ATTATATATATACTTTATATATATAATATATATTATATATATTATATATA TACTTTATATATATAATATATATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCTCCCC others(500): Show TCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCTCTCCCCT TCCCCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0090 a0001c0001t0015g0090	1	326	0.0031	507	c.433 others(524): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGGGAGG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
OR11H4_chr14_20234286_20249349	20237646	A A	ATATACTA others(500): Show ATATACTATATAGTATATATAGTATATAGTATATATAGTATATATAGGAT ATATAGGATATATAGGATATATATAATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATGTATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	439	0.0023	507	c.-16 others(518): Show c.-1697_-1696insTATACTATATAGTATATATAGTATATAGTATATA TAGTATATATAGGATATATAGGATATATAGGATATATATAATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATGTATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAG		OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding					1639		chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(500): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCC TCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTG CCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGT CCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCT TCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTT CCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCC TCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTC CCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	350	0.0029	507	c.-14 others(518): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCC TCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCC CTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTC CCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCT CCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCC CTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTCCT CCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGC CTCCCTCCTTCCCTCCCTCCCTG		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					1277		chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2106700	C C	CGGTGGGC others(500): Show CGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGCGACTCTCAGCA AGCCCCTCTAGTGGGCGAGGACCTCCACACGTGTCGCCAGGCCAGGCGAC TCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACACGTGTCGCCAGGC CAGGCGACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCATGCGTGT CACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCC ACGTGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCCACACGTGT CACCAGGCCAGGTGACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCC ATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGA GGACCTCCATGCGTGTCACCAGGCCAGGCGACTCTCAGCAAGCCCCTCCG GTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAA GCCCCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	286	0.0035	507	c.335 others(526): Show c.335-28544_335-28543insCACGTGTCACCAGGCCAGGCGACTCT CAGCAAGCCCCTCTAGTGGGCGAGGACCTCCACACGTGTCGCCAGGCCAG GCGACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACACGTGTCGC CAGGCCAGGCGACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCATG CGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGA CCTCCACGTGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCCACA CGTGTCACCAGGCCAGGTGACTCTCAGCAAGCCCCTCCGGTGGGCGAGGA CCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTG GGCGAGGACCTCCATGCGTGTCACCAGGCCAGGCGACTCTCAGCAAGCCC CTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTC AGCAAGCCCCTCTGGTGGGCGAGGACCTCCA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121868	G G	GGTTAGGG others(500): Show GGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTAGTTAGCGTCACGG TGGTAGTTAGGGTCACGGTGGTAGTTACTTAGGGTCATGGTGGTAGTTAG GGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAG TTACTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTAGGG TCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTT ATTTAGGGTCATGGTGGTAATTAGGGTCATGGTGGTAGTTACTTAGGATC ATGGTAGTTAGGGTCACGGCGGTAGTTACTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACGGTGGTA GTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCACGGT GGTAGTTAGGGTCACGGCGGTAGTTAGGGTCATGGCTGTAGTTAGCGTCA CGGTGGTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	286	0.0035	507	c.335 others(526): Show c.335-13377_335-13376insAGTTAGGGTCACGGTGGTAGTTAGCG TCACGGTGGTAGTTAGGGTCACGGTGGTAGTTACTTAGGGTCATGGTGGT AGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG TGGTAGTTACTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAT TTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTATTTAGGGTCATGGTGGTAATTAGGGTCATGGTGGTAGTTACTT AGGATCATGGTAGTTAGGGTCACGGCGGTAGTTACTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACG GTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGT CACGGTGGTAGTTAGGGTCACGGCGGTAGTTAGGGTCATGGCTGTAGTTA GCGTCACGGTGGTAGTTAGGGTCACGGTGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123797	G G	GTCACGGC others(500): Show GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTG GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTGGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0227 a0001c0003t0001g0227	1	286	0.0035	507	c.335 others(526): Show c.335-11464_335-11463insCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTA GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTGGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162010624	A A	ATATATTA others(500): Show ATATATTATATAATATATTATATAATATATAATATTATATATTATATAAT ATATTATATAATATATTATATTATATATTATATAATATATATTATATAAT ATATTATATTATATATTATATATTATATAATATATTATATTATATATAAT ATAATATATTATATTATATATAATATAATATATTATATAATATATTATAT ATATTAATATTATATATTATATAATATATTATATATATAATATAATATAT TATATAATATATTATATATATTAATATTATATATTATATAATATATTATA TATATTAATATTATATATTATATAATATATTATATATATTAATATTATAT ATTATATAATATATTATATATATTAATATTATATATTATATAATATATTA TATATATTAATATTATATATTATATAATATATTATATATATTAATATTAT ATATTATATAATATATTATATATATTATACATTATATAATATATATTATA TAGTATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	32	0.0313	507	c.619 others(526): Show c.619-37208_619-37207insATATACTATATAATATATATTATATA ATGTATAATATATATAATATATTATATAATATATAATATTAATATATATA ATATATTATATAATATATAATATTAATATATATAATATATTATATAATAT ATAATATTAATATATATAATATATTATATAATATATAATATTAATATATA TAATATATTATATAATATATAATATTAATATATATAATATATTATATAAT ATATAATATTAATATATATAATATATTATATAATATATTATATTATATAT ATAATATATTATATAATATATAATATTAATATATATAATATATTATATAA TATATTATATTATATATAATATAATATATTATATTATATATAATATAATA TATTATATAATATATAATATATAATATAATATATTATATAATATATATTA TATAATATATAATATAATATATTATATAATATATTATATAATATATAATA TTATATATTATATAATATATTATATAATATA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11						chr6	TogoVar
PTPN4_chr2_119754922_119989899	119843930	A A	ACCCCCCC others(500): Show ACCCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCC GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCG ATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTTCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGAC AGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0006 a0001c0001t0032g0006	1	252	0.0040	507	c.139 others(526): Show c.139-18599_139-18598insCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCCGATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACCCCCCCCC		PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP3_chr16_420649_528011	458501	C C	CCACAGGG others(500): Show CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC TGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGGTTCACCGATGCTCACA GGGCCTGGGGGGCCTTCCTCAGGTTCACCGATGCTCACAGGGCCTGGGGG GCCTTCCTCAGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCAGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGGTTCA CTGATGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0081 a0001c0002t0009g0081	1	295	0.0034	507	c.715 others(524): Show c.715-2871_715-2870insTGATGCTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACA GGGCCTGGGGGGCCTTCCTCAGGTTCACCGATGCTCACAGGGCCTGGGGG GCCTTCCTCAGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCAG GTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGGTTCA CCGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGGTTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCAC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458567	G G	GTTCAGTG others(500): Show GTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCA CTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCA GATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCAGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	295	0.0034	507	c.715 others(524): Show c.715-2833_715-2832insGTGATGTTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGG GGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGC CTGGGGGGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCA CAGGGCCTGGGGGGCCTTCCTCAGATTCA		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(500): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTTCT CGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCG ATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGG GCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGC CTTCCTCA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0294 a0001c0001t0008g0294	1	295	0.0034	507	c.715 others(524): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTTCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCC TGGGGGGCCTTCCTCAGGTTCACCGATGC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114001427	A A	ACGGCCGC others(500): Show ACGGCCGCGGGCTCGGGGTCAGGGTGGGCAGTGGACACTCACGCAACATG GAGGACCTACAGCCACGGGCTCGGGGTCAGGGCAGGCAGTGGACGCTCAC ACACAGAGGACCTACAGCCGCGGGCTCGGGGTCAGGGCAGGCAGTGGACG CTCACACACAGAGGACCTACAGCCGCGGGCTCAGGGTCAGGGTGGACAGT GGATGCCCACACAACACAGAGGACCTACGGCCACAGGCTCGGGGTCAGGG CGGGCAGTGGATGCCCACACAACACGGAGGACCTGCGGCCGTGGGCTCGG GGTCAGGGCAGGCAGCGGACGCTCACACACGGAGGACCTGCGGCCGCGGG CTCGGGGTCAGGGTGGGCAGTGGACACTCACGCAACATGGAGGACCTACA GCCGCGGGCTCGGGGTCAGGGCAGGCAGTGGACGCTCACACACAGAGGAC CTACAGCCGCGGGCTCGGGGTCAGGGCGGGCAGTGGACGCTCACACACGG AGGACCTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02300.hp1 HG01433.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0011 a0001c0001t0006g0012	2	67	0.0299	507	c.174 others(524): Show c.1743-496_1743-495insCAGGTCCTCCGTGTGTGAGCGTCCACTG CCCGCCCTGACCCCGAGCCCGCGGCTGTAGGTCCTCTGTGTGTGAGCGTC CACTGCCTGCCCTGACCCCGAGCCCGCGGCTGTAGGTCCTCCATGTTGCG TGAGTGTCCACTGCCCACCCTGACCCCGAGCCCGCGGCCGCAGGTCCTCC GTGTGTGAGCGTCCGCTGCCTGCCCTGACCCCGAGCCCACGGCCGCAGGT CCTCCGTGTTGTGTGGGCATCCACTGCCCGCCCTGACCCCGAGCCTGTGG CCGTAGGTCCTCTGTGTTGTGTGGGCATCCACTGTCCACCCTGACCCTGA GCCCGCGGCTGTAGGTCCTCTGTGTGTGAGCGTCCACTGCCTGCCCTGAC CCCGAGCCCGCGGCTGTAGGTCCTCTGTGTGTGAGCGTCCACTGCCTGCC CTGACCCCGAGCCCGTGGCTGTAGGTCCTCCATGTTGCGTGAGTGTCCAC TGCCCACCCTGACCCCGAGCCCGCGGCCG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23						chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79495576	G G	GGTGCGGG others(500): Show GGTGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGG GTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGG GGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGA GGTGGGGGCAGGGGTACTGGAGGCAGGGATGGGGGTGCAGGAAGGTGGGA AGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGG CAGGGATGGGGATGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGG TGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTG GGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAG AGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGG GTGCAGAGGGTGGGGAGGTGGGGGCAGGGGTACTGGAGGCAGGGATGGGG GTGCAGGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	154	0.0065	507	c.-31 others(528): Show c.-319-12979_-319-12978insTCCTGCACCCCCATCCCTGCCTCC AGTACCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCC CACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCA CCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCT CCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGC ACCCCTCCCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCCTGCC CCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCTTCCTGCAC CCCCATCCCTGCCTCCAGTACCCCTGCCCCCACCTCCCCACCCTCTGCAC CCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCT CTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCC CACCCTCTGCACCCCTCCCCCACCTTCCCGCAC		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79495576	G G	GGTGCGGG others(500): Show GGTGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGG GTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGG GGAGGGGTGCAGAGGGTGGGGAGGTGGGGGCAGGGGTACTGGAGGCAGGG ATGGGGGTGCAGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGG AGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGGGGG AGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGG TGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTG GGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAG AGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGG GTGCAGAGGGTGGGGAGGTGGGGGCAGGGGTACTGGAGGCAGGGATGGGG GTGCAGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0062 a0001c0001t0007g0062	1	154	0.0065	507	c.-31 others(528): Show c.-319-12979_-319-12978insTCCTGCACCCCCATCCCTGCCTCC AGTACCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCC CACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCA CCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCT CCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGC ACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCA TCCCCATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACC CCTCCCCCACCTTCCCACCTTCCTGCACCCCCATCCCTGCCTCCAGTACC CCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCT CTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCC CACCCTCTGCACCCCTCCCCCACCTTCCCGCAC		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(500): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGTATAT GCCATATGGTATATATTGTATATAAAATATATAGTATATGCTATATGGTA TATATTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	196	0.0051	507	c.-9+ others(524): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATGCAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATAT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(500): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGTATAT GCCATATGGTATATATTGTATATAAAATATATAGTATATGCTATATGGTA TATATTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG02300.hp1 HG01081.hp1 HG01255.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0102	3	196	0.0153	507	c.-9+ others(524): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATAT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(500): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGTATAT GCTATATGGTATATATTGTATATAAAATATATATTATATGCTATATGGTA TATATTGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0069 a0001c0001t0016g0069	1	196	0.0051	507	c.-9+ others(524): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATAATAT ATATTTTATATACAATATATACCATATAGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATAT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(500): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCTATATGGTATATATTGTATATAAAATATATAGTATAT GCTATATGGTATATATTGTATATAAAATATATATTATATGCTATATGGTA TATATTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0067 a0001c0001t0038g0067	1	196	0.0051	507	c.-9+ others(524): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATAATAT ATATTTTATATACAATATATACCATATAGCATATACTATATATTTTATAT ACAATATATACCATATAGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATAT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(500): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGTATAT GCTATATGGTATATATTGTATATAAAATATATAGTATATGCTATATGGTA TATATTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0076 a0001c0001t0007g0076	1	196	0.0051	507	c.-9+ others(524): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATAGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATACAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATAT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar

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Search Results (Total: 10000 hits)