Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(644): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGG GAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAG GGGGAGACAGAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGG AA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0036 a0001c0001t0011g0036	1	216	0.0046	651	c.923 others(670): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCC CCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATC CCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTCCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTT CATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DOCK8_chr9_209865_470255	400616	T T	TCCACCAC others(644): Show TCCACCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCAC CAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCA TCACCACCACCACCTCCACCACCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCAC CACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCT TCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACC ACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCA CCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACC ACCTCCACCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCAC CATCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCACC ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTC CA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0001 a0004c0043t0001	a0004c0043t0001g0245 a0004c0043t0001g0245	1	256	0.0039	651	c.323 others(670): Show c.3234+1483_3234+1484insTCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCAC CACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCA CCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCAC CATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCACCT CCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCACC TCCACCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCAT CACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCAC CACCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA GCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATC ACCACCACCACCTCCACCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EBF2_chr8_25836725_26050413	26005383	T T	TAATTATA others(644): Show TAATTATATATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATAATATATAATATATTATATATTATATATATTATATAAAATA TAATATATTATATATAATTATATTATATATTATATATAATATATAATTAT ATGTTATATATTATATATATTATATATTATATATATATTATATATATAAT ATATATTATATATTAAATTATATATAATATATATTATATATATAATTTAT ATATATAAAATATATTATATATTATATAAATATATATATTTTATATATAT AAAATATATATTTTATAATATATAATATAGAAATGTATATTATATAATAT ATAATTATATATAATTATATATTATATAATATATATTTCTATATTATATA TTTATAATGTATAATATATAAATATATTATAAATATATATTATATACTAT ATAATGCATTATAAATATATTATATTTATATATTATAAATATATTACATA TTTATATATTATATATATAATATATATATTATATATTATAAATATATTTT ATAAAATATAATATATATATTATATATTATATATTATAAATATATTTTAT AAAATATAATATATATATTATATATTATATTTTATAAAATATAATAATAA TA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0004 a0001c0002t0009g0004	1	220	0.0046	651	c.551 others(670): Show c.551+27701_551+27702insTATTATTATTATATTTTATAAAATAT AATATATAATATATATATTATATTTTATAAAATATATTTATAATATATAA TATATAATATATATATTATATTTTATAAAATATATTTATAATATATAATA TATATATTATATATATAATATATAAATATGTAATATATTTATAATATATA AATATAATATATTTATAATGCATTATATAGTATATAATATATATTTATAA TATATTTATATATTATACATTATAAATATATAATATAGAAATATATATTA TATAATATATAATTATATATAATTATATATTATATAATATACATTTCTAT ATTATATATTATAAAATATATATTTTATATATATAAAATATATATATTTA TATAATATATAATATATTTTATATATATAAATTATATATATAATATATAT TATATATAATTTAATATATAATATATATTATATATATAATATATATATAA TATATAATATATATAATATATAACATATAATTATATATTATATATAATAT ATAATATAATTATATATAATATATTATATTTTATATAATATATATAATAT ATAATATATTATATATTATATATAATTATATATTATATATAATATATAAT TATATATTATATATAATATATAATT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(644): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCAACCCTCCTCTGCATCCTCAGGGAACCTG CCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACC CTCCACCCGACCCTTCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACC CTGACCTCACCTGCATCCTCAGGGAACCTGCCACCCTCCACCCGACCCTC CTCTTCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCTGCA TCCTCAGGGAGCCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTCA GGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACC TGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCCA CCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCA CCCTGACCCTCCTCTGCATCCTCAAGGAACCTGCCCAACCTCCACCCCCA CCCTCCTCTGCATCCTCAGGGAACCTGCCCATTCCTCCCACCCCACCCTC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0064 a0001c0011t0004g0064	1	374	0.0027	651	c.14 others(662): Show c.1427_*1428insAGGAGGGTGGGGTGGGAGGAATGGGCAGGTTCCC TGAGGATGCAGAGGAGGGTGGGGGTGGAGGTTGGGCAGGTTCCTTGAGGA TGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGA GGAGGGTGGGGTGGAGGGTGGGGCAGGTTCCCTGAGGATGCGGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTG GAGGTTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGT GGGCAGGCTCCCTGAGGATGCAGAGGAGGGTCGGGTGGAGGGTGGGCAGG TTCCCTGAGGATGAAGAGGAGGGTCGGGTGGAGGGTGGCAGGTTCCCTGA GGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCG GAGAAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGG GTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTTGGG TGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGA TGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAG GTTCCCTGAGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(644): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAAGA GGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGG AGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGG GAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGA GGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAG GAGGGAGGGAGGAGGGTGTGAAGGGGAAAGAGGGAGGGGAGGATTGGAAA GGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTA AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01346.hp1 HG04184.hp1 others(1): Show HG01081.hp2 HG01346.hp1 HG04184.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	4	294	0.0136	651	c.-38 others(662): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGA GGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGA AGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAG AGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTG AAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAAGAGGGA GGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGA AGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(644): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAAGA GGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGG AGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGG GAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGA GGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAG GAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAA GGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTA AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 NA20129.hp1 HG01257.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0042 a0001c0001t0002g0001 a0001c0001t0002g0042	2	294	0.0068	651	c.-38 others(662): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGA GGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGA AGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAG AGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTG AAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGA GGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGA AGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(644): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAAGA GGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGG AGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGG GAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGA GGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAG GAGGGAGGGAGGAGGGTGTGAAGGGGAAAGAGGGAGGGGAGGATTGGAAA GGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTA AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02300.hp2 HG03710.hp1 others(2): Show HG01346.hp2 HG02300.hp2 HG03710.hp1 HG04184.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	5	254	0.0197	651	c.35 others(662): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGA GGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGA AGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAG AGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTG AAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAAGAGGGA GGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGA AGGGAGGGGGTATTAAT	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(644): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAAGA GGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGG AGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGG GAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGA GGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAG GAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAA GGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTA AT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	254	0.0039	651	c.35 others(662): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGA GGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGA AGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAG AGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTG AAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGA GGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGA AGGGAGGGGGTATTAAT	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(644): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATGTA TATATATTTATATATATATAAATATATATATATTTGTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA CATATAAATATATATTTATATACATATAAATATATAATTATATACATATA AATATATAATTATATACATATAAATATATATAATTATATACATATAAATA TATATTTATATACATATAAATTTATATACATATAAATATAAATATTTATA TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	292	0.0034	651	c.49 others(662): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATACATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATGTAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATTTATATGTATATAAATA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(644): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTACATACATATAAATATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATATATTTATATATATATAAATATATATATATTTGTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA CATATAAATATATATTTATATACATATAAATATATAATTATATACATATA AATATATAATTATATACATATAAATATATATAATTATATACATATAAATA TATATTTATATACATATAAATTTATATACATATAAATATAAATATTTATA TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02080.hp2 HG02074.hp1 HG02080.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0058 a0003c0003t0002g0253 a0001c0001t0002g0058 a0003c0003t0002g0253	2	292	0.0069	651	c.49 others(662): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATG TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(644): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATATATTTATATATATATAAATATATATATATTTGTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA CATATAAATATATATTTATATACATATAAATATATAATTATATACATATA AATATATAATTATATACATATAAATATATATAATTATATACATATAAATA TATATTTATATACATATAAATTTATATACATATAAATATAAATATTTATA TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0232 a0004c0005t0001g0232	1	292	0.0034	651	c.49 others(662): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(644): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATATATTTATATATATATAAATATATATATATTTGTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA CATATAAATATATATTTATATACATATAAATATATAATTATATACATATA AATATATAATTATATACATATAAATATATATAATTATATACATATAAATA TATATTTATATACATATAAATTTATATACATATAAATATAAATATTTATA TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0135 a0002c0002t0002g0135	1	292	0.0034	651	c.49 others(662): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(644): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATATATTTATATATATATAAATATATATATATTTGTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA CATATAAATATATATTTATATACATATAAATATATAATTATATACATATA AATATATAATTATATACATATAAATATATATAATTATATACATATAAATA TATATTTATATACATATAAATTTATATACATATAAATATAAATATTTATA TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0013 a0013	a0013c0028 a0013c0028	a0013c0028t0002 a0013c0028t0002	a0013c0028t0002g0069 a0013c0028t0002g0069	1	292	0.0034	651	c.49 others(662): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATTTATATGTATATAAATATATATATTTATA TGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FRYL_chr4_48492357_48785279	48659838	G G	GGGAGAAG others(644): Show GGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAG AAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGA GAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGA GGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAG AAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGA GAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGA GGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAG AAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGA GAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGA GGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAG AAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGA GAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGA GGGAGAAGGAGAAGAGGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0232 a0001c0003t0001g0232	1	282	0.0036	651	c.-81 others(670): Show c.-81+24834_-81+24835insTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCT TCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCC CTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTT CTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCT TCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCC CTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTT CTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCT TCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCC CTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTT CTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCT TCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCC CTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTT CTCCTTCTCCCTCTTCTCCTTCTCC	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(644): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAA TG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0171 a0001c0001t0013g0171	1	204	0.0049	651	c.240 others(670): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(644): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAA TG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	204	0.0049	651	c.240 others(670): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTG GAGGTCCCCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC TCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTCATTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGA GGTCCCCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(644): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCT GGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATGA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAA TG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	204	0.0049	651	c.240 others(670): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC CCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(644): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAA TG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	204	0.0049	651	c.240 others(670): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GRIN2A_chr16_9748408_10187428	9848749	T T	TTTTAAAT others(644): Show TTTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTT TATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAA AATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATAT TTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACAC TGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATA TATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTA TATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAA TACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTT AAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTG TTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATA TAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATA TA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	168	0.0060	651	c.132 others(670): Show c.1328+1006_1328+1007insTATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA TATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTA TATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAA CAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTT AAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTA TTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATA TAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATA TATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACA GTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAA ATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATT TTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATA AAACAGTGTATTTTATATATTTAAA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
IFNAR1_chr21_33319970_33364864	33323138	T T	TATATATG others(644): Show TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GGAATATATATATATGGAATATACGTATGGAATATATATATATGGAATAT ACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATATG GAATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATA TATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGG AATATATATATGGAATATATATGTATGGAATATATATATGGAATATATAT GTATGGAATATATATATGGAATATATATATGGAATATATATGTATGGAAT ATATATATGGAATATATATGTATGGAATATACATATGGAATATATATGTT TGGAATATATATATATGGAATATATATGTATGGAATATATATATATGGAA TATATGTATGGAATATATATATGGAATATATGTATGGAATATATATATAT GGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATATAT ATATGGAATATATGTATGGAATATATATATGGAATATATGTATATGGAAT ATATATATGGAATATATGTATATGGAATATATATGGAATATATGTATATG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0208 a0002c0002t0002g0208	1	323	0.0031	651	c.-19 others(662): Show c.-1918_-1917insATATATGGAATATATACGTATGGAATATATATAT GGAATATATACGTATGGAATATATATATATGGAATATACGTATGGAATAT ATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTATG GAATATATATATATGGAATATATATGTATGGAATATATATATGGAATATA TATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGG AATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATAT ATATGGAATATATATGTATGGAATATATATATGGAATATATATATGGAAT ATATATGTATGGAATATATATATGGAATATATATGTATGGAATATACATA TGGAATATATATGTTTGGAATATATATATATGGAATATATATGTATGGAA TATATATATATGGAATATATGTATGGAATATATATATGGAATATATGTAT GGAATATATATATATGGAATATATGTATGGAATATATATATATGGAATAT ATGTATGGAATATATATATGGAATATATGTATGGAATATATATATGGAAT ATATGTATATGGAATATATATATGGAATATATGTATATGGAATATATATG GAATATATGTATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1831		chr21	TogoVar
KCNG2_chr18_79792938_79905100	79830756	G G	GACAGAGC others(644): Show GACAGAGCCTTTGTCAGGAGGGTTCCTTGCGGACAGAGCCTTCGTCAGGA GGGTTCCCTGCATACAGAGCCTTCGTCAGGAGCGTTCTCTGCGGACAGAG CCTTCGTCAGGAGGGTTCCCTGCATACAGAGCCTTCGTCAGGAGGGTTCC CTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCATACAGAGCCTTCGT CAGGAGCGTTCTCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCATA CAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGG GTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCC TTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCT GCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCA GGAGGGTTCCCTGCATACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACA GAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGT TCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCATACAGAGCCTT CGTCAGGAGCGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGC AT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02717.hp1 HG01952.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0136 a0001c0001t0001g0083 a0001c0001t0001g0136	2	312	0.0064	651	c.-11 others(672): Show c.-114-25613_-114-25612insTGTCAGGAGGGTTCCTTGCGGACA GAGCCTTCGTCAGGAGGGTTCCCTGCATACAGAGCCTTCGTCAGGAGCGT TCTCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCATACAGAGCCTT CGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGC ATACAGAGCCTTCGTCAGGAGCGTTCTCTGCGGACAGAGCCTTCGTCAGG AGGGTTCCCTGCATACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGA GCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTC CCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCG TCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGG ACAGAGCCTTCGTCAGGAGGGTTCCCTGCATACAGAGCCTTCGTCAGGAG GGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGC CTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCC TGCATACAGAGCCTTCGTCAGGAGCGTTCCCTGCGGACAGAGCCTTCGTC AGGAGGGTTCCCTGCATACAGAGCCTT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(644): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAG GAGGAGAGGAAAGAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGG AAGGAAGAGGGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAG AAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGG GAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0079 a0001c0030t0079	a0001c0030t0079g0188 a0001c0030t0079g0188	1	386	0.0026	651	c.-46 others(662): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCCCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTCTTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTC CTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTT CCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCAC TTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCT CTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCC TCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCC TCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCC CCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTCTTTTC TCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIF3B_chr20_32272651_32340011	32322672	T T	TTATATAT others(644): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTAATATATATTTATATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATCTA TATTTATATATTATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTATATATA TATTTATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATTATTATATATATTTTATAT ATATTTATATATATATTATATATATTTATATATATATTTATATATATTTA TA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0039 a0001c0002t0004g0039	1	242	0.0041	651	c.174 others(670): Show c.1749-4092_1749-4091insATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTAATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATTTATATATATATTTATATATATTTA TATATATATTTATCTATATTTATATATTATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATATTTATATATTAT TATATATATTTTATATATATTTATATATATATTATATATATTTATATATA TATTTATATATATTTATATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KREMEN1_chr22_29068035_29151820	29120084	T T	TGGAGGAA others(644): Show TGGAGGAAGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGA AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGA GGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGA GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAAC AGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGAA GGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAG GTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACGGAGGAG GGAGAGGTGATGATGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGG GAGGAGGGAGAGGTGATGATGGAAACAGAGAGGAAGGAGAGGTGATGATG GAAACGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGGAGAGGTGAT GAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAG GAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAA AC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02523.hp2 NA18954.hp2 others(2): Show HG02015.hp2 HG02523.hp2 NA18954.hp2 NA18994.hp2 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0059 a0001c0002t0001 a0001c0002t0059	a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 others(2): Show a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0103 a0001c0002t0059g0092	5	368	0.0136	651	c.353 others(668): Show c.353-1267_353-1266insAGGAGAGGTGATGAAGGAAACAGGGAGG AGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGA AGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGA GGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGA AGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAAC AGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATG ATGGAAACGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGGAGAGGT GATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGAGAGGAA GGAGAGGTGATGATGGAAACGGAGGAGGGAGAGGTGATGATGGAAATGGA GGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGA AATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGAT GATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGA GAGGTGATGATGGAAACGGAGGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LHPP_chr10_124456823_124619141	124471506	A A	ATATATAA others(644): Show ATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATT ACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATAT ATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTA TGTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATATTATTTATATATATATTTATATA TATATTATTTATATATATATTTATATATATTTATATATATTTATATATAT AT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	260	0.0039	651	c.125 others(668): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATATTA TTTATATATATATTTATATATATATTATTTATATATATATTTATATATAT TTATATATATTTATATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(644): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGA CGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGCGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAC GGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGTCTCGGG AT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0070 a0002c0016t0001g0070	1	294	0.0034	651	c.153 others(670): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGTGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACC ACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTC GCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCCTCCCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGT CCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCG TGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGAGACATCACTCACACCCGTCCCGTGACACC ACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTGCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859736	C C	CGGGTGTG others(644): Show CGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTG TGAGTGATGTCTCGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGG TGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTC ACGGGACGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGG GACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACG GGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTG TGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGG TGTCACGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTC TCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGCAGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGTCTCGGG GT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0007 a0005c0024t0007	a0005c0024t0007g0294 a0005c0024t0007g0294	1	294	0.0034	651	c.153 others(670): Show c.1530-5031_1530-5030insACCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCACCC CGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCGAG ACACCACTCACACCCACCCCGTGACACCACTCACACCCATCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC GCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTCGC ACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCC GTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCCTCC CGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAG ACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACAC CACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACATCAC TCACACCCGTCCCGAGACATCACTCACACCCGTCCCGTGACACCACTGCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTGCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAAC others(644): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCCC CCCAGCACCCCTCCCAGCCCCCCTCCACCTCCCGCAGCACCCCTCCCAGC CCCTTCCACCTCCCCCAGCACCCCTCCCAACCCACCTCCCCCCAGCACCC CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTC CCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCA GCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCC CAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCC CCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTAC CCCTCCCAGCCCCTTCCACCTCCCCCAGCACCCCTCCCAACCCCCCACCT CCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCC AGCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCC AGCACCACCCCCAGCCCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCC TCCACCTTTCCCAGCACCCTTCCCAGCCCCCTCCACCTCCCCACAGCTCC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	428	0.0023	651	c.-45 others(662): Show c.-4574_-4573insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAG GGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAG GGGGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCT GGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGG TGGAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGGAGGGG TGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGG GGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGC TGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGG GAGGTGGGGGGTTGGGAGGGGTGCTGGGGGGAGGTGGGTTGGGAGGGGTG CTGGGGGAGGTGGAAGGGGCTGGGAGGGGTGCTGCGGGAGGTGGAGGGGG GCTGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGG GAGGTGGGGGGTTGGGA	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4486		chr22	TogoVar
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAAC others(644): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCCC CCCAGCACCCCTCCCAGCCCCCTCCACCTCCCGCAGCACCCCTCCCAGCC CCTTCCACCTCCCCCAGCACCCCTCCCAACCCACCTCCCCCCAGCACCCC TCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCC CCCCAGCACCCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCA GCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCC CAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCC CCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTAC CCCTCCCAGCCCCTTCCACCTCCCCCAGCACCCCTCCCAACCCCCCACCT CCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCC AGCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCC AGCACCACCCCCAGCCCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCC TCCACCTTTCCCAGCACCCTTCCCAGCCCCCTCCACCTCCCCACAGCTCC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	428	0.0023	651	c.-45 others(662): Show c.-4574_-4573insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAG GGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAG GGGGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCT GGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGG TGGAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGGAGGGG TGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGG GGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGC TGGGAGGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGG GGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGGAGGTGGGTTGGGAGGGGT GCTGGGGGAGGTGGAAGGGGCTGGGAGGGGTGCTGCGGGAGGTGGAGGGG GCTGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGG GAGGTGGGGGGTTGGGA	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4486		chr22	TogoVar
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAAC others(644): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCCC CCCAGCACCCCTCCCAGCCCCCTCCACCTCCCGCAGCACCCCTCCCAGCC CCTTCCACCTCCCCCAGCACCCCTCCCAACCCACCTCCCCCCAGCACCCC TCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCC CCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAG CCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCC AGCACCCCTCCCAGCCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCC CCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTAC CCCTCCCAGCCCCTTCCACCTCCCCCAGCACCCCTCCCAACCCCCCACCT CCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCC AGCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCC AGCACCACCCCCAGCCCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCC TCCACCTTTCCCAGCACCCTTCCCAGCCCCCTCCACCTCCCCACAGCTCC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	428	0.0023	651	c.-45 others(662): Show c.-4574_-4573insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAG GGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAG GGGGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCT GGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGG TGGAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGGAGGGG TGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGG GGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCT GGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGG CTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGG GGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGGAGGTGGGTTGGGAGGGGT GCTGGGGGAGGTGGAAGGGGCTGGGAGGGGTGCTGCGGGAGGTGGAGGGG GCTGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGG GAGGTGGGGGGTTGGGA	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4486		chr22	TogoVar
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAAC others(644): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCCC CCCAGCACCCCTCCCAGCCCCCTCCACCTCCCGCAGCACCCCTCCCAGCC CCTTCCACCTCCCCCAGCACCCCTCCCAACCCACCTCCCCCCAGCACCCC TCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCC CCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAG CCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCC AGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCC CTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTACC CCTCCCAGCCCCTTCCACCTCCCCCAGCACCCCTCCCAACCCCCCACCTC CCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCA GCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCC AGCACCACCCCCAGCCCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCC TCCACCTTTCCCAGCACCCTTCCCAGCCCCCTCCACCTCCCCACAGCTCC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	428	0.0023	651	c.-45 others(662): Show c.-4574_-4573insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAG GGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAG GGGGCTGGGGGTGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCT GGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGC TGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAG GTGGAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGGAGGG GTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAG GGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCT GGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGG CTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGG GGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGGAGGTGGGTTGGGAGGGGT GCTGGGGGAGGTGGAAGGGGCTGGGAGGGGTGCTGCGGGAGGTGGAGGGG GCTGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGG GAGGTGGGGGGTTGGGA	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4486		chr22	TogoVar
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAAC others(644): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCCC CCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCGCAGCACCCCTCCCAGC CCCTTCCACCTCCCCCAGCACCCCTCCCAACCCACCTCCCCCCAGCACCC CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTC CCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCA GCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCC CAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCC CCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTAC CCCTCCCAGCCCCTTCCACCTCCCCCAGCACCCCTCCCAACCCCCCACCT CCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCC AGCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCC AGCACCACCCCCAGCCCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCC TCCACCTTTCCCAGCACCCTTCCCAGCCCCCTCCACCTCCCCACAGCTCC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	428	0.0023	651	c.-45 others(662): Show c.-4574_-4573insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAG GGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAG GGGGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCT GGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGG TGGAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGGAGGGG TGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGG GGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGC TGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGG GAGGTGGGGGGTTGGGAGGGGTGCTGGGGGGAGGTGGGTTGGGAGGGGTG CTGGGGGAGGTGGAAGGGGCTGGGAGGGGTGCTGCGGGAGGTGGAGGGGG CTGGGAGGGGTGCTGGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGG GAGGTGGGGGGTTGGGA	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4486		chr22	TogoVar
MBD3L3_chr19_7051207_7063676	7061827	G G	GAATATAA others(644): Show GAATATAATTATATAATATATAATTATATTCTATATAGAATATAATTATA TAATATATAATTATATTCTATATAATATAATTATATAATATATAATTATA TTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATAT AATTATATAATATATAATTATATTCTATATTATATAATTATAATATAATT ATATAATATAATTATATTATATATAATTATATTAAATATTATATCATATA TAATTATATTATATATTATATCATATATAATTATATTATATATTATATCA TATATAATTATATTATATATTATATCATATATAATTATATTATATATGAT ATAATATATAATTATATTATATATTATATAATATATAATTATATTATATA TTATAATACATTTAATATAATTATATTATAGATTATAATCTATAATATAA TTATATTAATAGTATTATAATATATAATATATTATATATAATTATATTAT AACATATTATATATAATTATATTATAGATCATAATCTATAATATAATTAT ATATAATATGTTATAATATATAATTATATTCTATATATAATTATATATAA TATAATTATATTCTATATAGAATATAATTATATATAATTATATTCTATAT AC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	288	0.0035	651	c.-32 others(662): Show c.-3223_-3222insGTATATAGAATATAATTATATATAATTATATTCT ATATAGAATATAATTATATTATATATAATTATATATAGAATATAATTATA TATTATAACATATTATATATAATTATATTATAGATTATGATCTATAATAT AATTATATATAATATGTTATAATATAATTATATATAATATATTATATATT ATAATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATT ATATTAAATGTATTATAATATATAATATAATTATATATTATATAATATAT AATATAATTATATATTATATCATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATTTAATATAATTATATAT AATATAATTATATTATATAATTATATTATAATTATATAATATAGAATATA ATTATATATTATATAATTATATTCTATATAGAATATAATTATATATTATA TAATTATATTATATAGAATATAATTATATATTATATAATTATATTATATA GAATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATA TATTATATAATTATATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3152		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061827	G G	GAATATAA others(644): Show GAATATAATTATATAATATATAATTATATTCTATATAGAATATAATTATA TAATATATAATTATATTCTATATAATATAATTATATAATATATAATTATA TTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATAT AATTATATAATATATAATTATATTCTATATTATATAATTATAATATAATT ATATAATATAATTATATTATATATAATTATATTAAATATTATATCATATA TAATTATATTATATATTATATCATATATAATTATATTATATATTATATCA TATATAATTATATTATATATTATATCATATATAATTATATTATATATTAT ATAATATATAATTATATTATATATTATATAATATATAATTATATTATATA TTATAATACATTTAATATAATTATATTATAGATTATAATCTATAATATAA TTATATTAATAGTATTATAATATATAATATATTATATATAATTATATTAT AACATATTATATATAATTATATTATAGATCATAATCTATAATATAATTAT ATATAATATGTTATAATATATAATTATATTCTATATATAATTATATATAA TATAATTATATTCTATATAGAATATAATTATATATAATTATATTCTATAT AC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02896.hp1 HG02922.hp1 others(2): Show HG02559.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	5	288	0.0174	651	c.-32 others(662): Show c.-3223_-3222insGTATATAGAATATAATTATATATAATTATATTCT ATATAGAATATAATTATATTATATATAATTATATATAGAATATAATTATA TATTATAACATATTATATATAATTATATTATAGATTATGATCTATAATAT AATTATATATAATATGTTATAATATAATTATATATAATATATTATATATT ATAATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATT ATATTAAATGTATTATAATATATAATATAATTATATATTATATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATTTAATATAATTATATAT AATATAATTATATTATATAATTATATTATAATTATATAATATAGAATATA ATTATATATTATATAATTATATTCTATATAGAATATAATTATATATTATA TAATTATATTATATAGAATATAATTATATATTATATAATTATATTATATA GAATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATA TATTATATAATTATATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3152		chr19	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCCTAC others(644): Show CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCC CCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCA CT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	394	0.0025	651	c.-8+ others(664): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGG GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAG CCGGGGGCCGGGGTAGGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(644): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CCGGCCCCCGGCTCTCACCTCCTACCCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCT ACCCCGGCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCC CTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCA CT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0073 a0001c0001t0010g0073	1	394	0.0025	651	c.-8+ others(664): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGG GGTGAGAGCCGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGCCGGG GTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MYO1F_chr19_8515778_8582442	8543879	G G	GTGGTGGT others(644): Show GTGGTGGTGCTGGTGGTGGTGCTGGTGGTGGTGCTGGTGGTGGTGCTGGT GGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGCTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGCTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGT GGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGCTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGG TGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0320 a0001c0001t0004g0320	1	342	0.0029	651	c.152 others(668): Show c.1524+417_1524+418insGCACCACCACCACCACCACCACCACCAC CACCACCACCACCACCAGCACCACCACCACCACCACCACCACCACCACCA CCACCACCAGCACCACCACCACCACCACCACCACCACCAGCACCACCACC ACCACCACCACCACCACCACCACCACCACCACCAGCACCACCACCAGCAC CACCACCACCACCACCACCACCACCACCACCACCACCAGCACCACCACCA CCACCACCACCACCAGCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCACCAGCACCACCACCACCACCACCACCACCACCAGCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCAGCACCACCA CCAGCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCAGCACCACCACCACCACCACCACCACCACCACCACCACCAGCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCACCAGCACCA CCACCAGCACCACCACCACCACCACCACCACCACCACCAGCACCACCAGC ACCACCACCACCACCACCACCACCACCAGCACCACCACCAGCACCACCAC CAGCACCACCACCAGCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
NFATC1_chr18_79390930_79534323	79481767	A A	AATTCCAG others(644): Show AATTCCAGCGTGACCTGGTCCTGGGGTGTCACTCCAGCGTGACCTGGTTC CTGAGGTGTAATTCCAGCGTGACCTGGTTCCTGGGGTATAATTCCAGCGC GACCTTGTTCCTGGGGTGTCATTCCAGCGTGACCTGGTCCTGGGGTGTCA TTCCAGTGTGACGTGGTCCTGGGGTGTCACTCCAGCATGACCTGGTTCCT GGGGTGTCATTCCAGCGTGACCTGGTCCTGGGGTGTCATTCCAGCGTGAC CTGGTTCCTGGGGTGTCATTCCAGCGTGAGCTGTTTCCTGGGGTGTCATT CCAGCATGACCTGGTTCCTGAGGCGTAATTCCAGCGTGACCTGGTCCTGG GGTGTCACTCCAGCATGACCTCGTTCCTGGGGTGTAATTCCAGCGTGACC TGGTCCTGGGGTGTAATTCCAGCATGACCTGGTTCCTGGGGTGTAATTCC AGCGTGACCTGCTCCTGAGGTGTCACTCCAGCGTGACCTCGTTCCTGGGG TGTAATTCCAGTGTGACCTGGTTCCTGGGGTGTAATTCCAGCGTGACCTG GTTCCTGGGGTGTCATTCCAGCGTGACCTGGTCCTGGGGTGTCATTCCAG TGTGACGTGGTCCTGGGGTGTCACTCCAGCATGACCTGGTTCCTGGGGTG TC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0223 a0002c0003t0001g0223	1	322	0.0031	651	c.209 others(670): Show c.2093-4238_2093-4237insCGTGACCTGGTTCCTGGGGTGTCATT CCAGCGTGAGCTGTTTCCTGGGGTGTCATTCCAGCATGACCTGGTTCCTG AGGCGTAATTCCAGCGTGACCTGGTCCTGGGGTGTCACTCCAGCATGACC TCGTTCCTGGGGTGTAATTCCAGCGTGACCTGGTCCTGGGGTGTAATTCC AGCATGACCTGGTTCCTGGGGTGTAATTCCAGCGTGACCTGCTCCTGAGG TGTCACTCCAGCGTGACCTCGTTCCTGGGGTGTAATTCCAGTGTGACCTG GTTCCTGGGGTGTAATTCCAGCGTGACCTGGTTCCTGGGGTGTCATTCCA GCGTGACCTGGTCCTGGGGTGTCATTCCAGTGTGACGTGGTCCTGGGGTG TCACTCCAGCATGACCTGGTTCCTGGGGTGTCATTCCAGCGTGACCTGGT CCTGGGGTGTCACTCCAGCGTGACCTGGTTCCTGAGGTGTAATTCCAGCG TGACCTGGTTCCTGGGGTATAATTCCAGCGCGACCTTGTTCCTGGGGTGT CATTCCAGCGTGACCTGGTCCTGGGGTGTCATTCCAGTGTGACGTGGTCC TGGGGTGTCACTCCAGCATGACCTGGTTCCTGGGGTGTCATTCCAGCGTG ACCTGGTCCTGGGGTGTCATTCCAG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NKAIN2_chr6_123798865_124830640	124687566	T T	TATATTCC others(644): Show TATATTCCTATATATACATACATGGTATATATTCCATATATATACATACA TGGTATATATTCCATATATATACATACATGGTATATATTCCATATATATA TACATACATGGTATATATTCCATATATATATACACATACATGGTATATAT TCCATATATACATACATGGTATATATTCCTATATATACATACATGGTATA TATTCCAATATATACATACATGGTATATATTCCATATATATACATACATG GTATATATTCCATATATATATACATACATGGTATATATTCCATATATATA CATACATGGAATATATATATTCCATACATGGAATATATATATTCCATATA TACATATATATATTCCATATATACACAGATATATATTCCATATATACACA TATACATGGAATATATATCTGTATATATATGGAATATATATATGTATATA TATGAAATATATATGTATATGTATTTATATTATGTATTTATATTATAAAT ATATATTATGTATATATATTTATATTATAAATATATATTATGTATATATA TTTATAATATAAATATATATTATGTATATATATTTATAATATAAATATAT ATTATGTATATATATTTATATTATAAATATATATTATGTATATATATTTA TA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	66	0.0152	651	c.474 others(670): Show c.474+29184_474+29185insTCCTATATATACATACATGGTATATA TTCCATATATATACATACATGGTATATATTCCATATATATACATACATGG TATATATTCCATATATATATACATACATGGTATATATTCCATATATATAT ACACATACATGGTATATATTCCATATATACATACATGGTATATATTCCTA TATATACATACATGGTATATATTCCAATATATACATACATGGTATATATT CCATATATATACATACATGGTATATATTCCATATATATATACATACATGG TATATATTCCATATATATACATACATGGAATATATATATTCCATACATGG AATATATATATTCCATATATACATATATATATTCCATATATACACAGATA TATATTCCATATATACACATATACATGGAATATATATCTGTATATATATG GAATATATATATGTATATATATGAAATATATATGTATATGTATTTATATT ATGTATTTATATTATAAATATATATTATGTATATATATTTATATTATAAA TATATATTATGTATATATATTTATAATATAAATATATATTATGTATATAT ATTTATAATATAAATATATATTATGTATATATATTTATATTATAAATATA TATTATGTATATATATTTATAATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(644): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGAAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGA GAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGAG GGAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGG GAGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGA GGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAG TGGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTT GGAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGG GGAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGG GAGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGAG GGGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGTGGGGAGG GA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	196	0.0051	651	c.321 others(670): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCC CCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTC CTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTC CCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCTGCCTTCCTCC CTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCC TCCACCCTCCCTCCCCACTTTCCCCCCTCCACCCTCCCTGCCCTCCCCAC TCTCCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCTCCC CACCCTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCCCCT CCACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(644): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGGAAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGG AGAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGAGGGAG GGAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGG GAGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGA GGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAG TGGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTT GGAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGG GGAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGG GAGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGAG GGGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGTGGGGAGG GA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01981.hp2 HG02135.hp2 HG01167.hp2 HG01981.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 a0001c0001t0001 a0001c0001t0005 a0001c0002t0003	a0001c0001t0001g0046 a0001c0001t0005g0155 a0001c0002t0003g0161 a0001c0001t0001g0046 a0001c0001t0005g0155 a0001c0002t0003g0161	3	196	0.0153	651	c.321 others(670): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCC CCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTC CTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTC CCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCTGCCTTCCTCCC TCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCT CCACCCTCCCTCCCCACTTTCCCCCCCTCCACCCTCCCTGCCCTCCCCAC TCTCCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCTCCC CACCCTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCCCCT CCACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(644): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGGAAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGG AGAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGA GGGAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGG GGAGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGG AGGGTGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAG TGGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTT GGAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGG GGAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGG GAGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGAG GGGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGTGGGGAGG GA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	196	0.0051	651	c.321 others(670): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCC CCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCACCCTCCCCACTCTCCCTCCCTCCCCTCC TCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTCC CTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCTGCCTTCCTCCC TCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCT CCACCCTCCCTCCCCACTTTCCCCCCCTCCACCCTCCCTGCCCTCCCCAC TCTCCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCTCCC CACCCTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCCCCT CCACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(644): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATA CTATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATA GTATATATACTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	439	0.0023	651	c.-16 others(662): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATAC TATAGAGTATATATAGTATATATACTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR2T1_chr1_248398048_248413020	248404195	C C	CGTGTGTG others(644): Show CGTGTGTGTGCGTGTGTATAAAATGGGAGTAACCGTGAACAGACAGCAGA GGCTGCTATTACATATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAA CAGAGAGCAGAGGACGCTATTACATATACGTGTGTGTGTATAAAATGGGA GTAAGCGTGAACAGACAGCAGAGGGCCCTATTACATATACGTGTGTGTGT ATAAAATGGGAGTAAGCGTGAACAGAGAGCAGAGGGCGCTATTACATATA CGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAGCAGAGGCCGC TATTACATATATGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAGC AGAGGGCGCTATTACATATATATGTTTGTGTGTGTTTGTGTGTGTGTGTC TGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCAGAGGCTATTA CATATATGTGTGTGTATAAAATGGGAGTAAGTGTGAACAGACAGCAGAGG CTGCTATTACATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGA GAGCAGAGGGCGCTATTACACATACGTGTGTGTATAAAATGGGAGTAACC GTGAACAGACAGCAGAGGCCGCTATTACATATATGTGTGTGTGTGTGTGT GT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03209.hp2 HG02280.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0160 a0001c0001t0002g0161	2	266	0.0075	651	c.-34 others(666): Show c.-34+959_-34+960insCGTGTGTATAAAATGGGAGTAACCGTGAAC AGACAGCAGAGGCTGCTATTACATATACGTGTGTGTGTATAAAATGGGAG TAAGCGTGAACAGAGAGCAGAGGACGCTATTACATATACGTGTGTGTGTA TAAAATGGGAGTAAGCGTGAACAGACAGCAGAGGGCCCTATTACATATAC GTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGAGAGCAGAGGGCGCT ATTACATATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAG CAGAGGCCGCTATTACATATATGTGTGTGTATAAAATGGGAGTAAGCGTG AACAGACAGCAGAGGGCGCTATTACATATATATGTTTGTGTGTGTTTGTG TGTGTGTGTCTGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCA GAGGCTATTACATATATGTGTGTGTATAAAATGGGAGTAAGTGTGAACAG ACAGCAGAGGCTGCTATTACATACGTGTGTGTGTATAAAATGGGAGTAAG CGTGAACAGAGAGCAGAGGGCGCTATTACACATACGTGTGTGTATAAAAT GGGAGTAACCGTGAACAGACAGCAGAGGCCGCTATTACATATATGTGTGT GTGTGTGTGTGTGTGTGTGTG	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	977728	A A	ACCAACCC others(644): Show ACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG AGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGA GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCC CG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp1 HG02257.hp1 others(8): Show HG00741.hp1 HG01433.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02896.hp1 HG03041.hp1 HG03540.hp2 NA20805.hp2 NA20905.hp1	a0002 a0005 a0013 a0002 a0005 a0013	a0002c0005 a0005c0006 a0013c0044 a0002c0005 a0005c0006 a0013c0044	a0002c0005t0004 a0002c0005t0005 a0005c0006t0004 others(2): Show a0002c0005t0004 a0002c0005t0005 a0005c0006t0004 a0005c0006t0005 a0013c0044t0005	a0002c0005t0004g0225 a0002c0005t0005g0044 a0002c0005t0005g0224 others(7): Show a0002c0005t0004g0225 a0002c0005t0005g0044 a0002c0005t0005g0224 a0002c0005t0005g0226 a0002c0005t0005g0227 a0005c0006t0004g0221 a0005c0006t0005g0212 a0005c0006t0005g0219 a0005c0006t0005g0220 a0013c0044t0005g0235	11	408	0.0270	651	c.215 others(670): Show c.2150-1105_2150-1104insCGGGGTGGTGGGAGGCGGTTCCCGGG GTTGCGGGGGGAGTGGGAGGCGGTTCTCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGG TGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGG TGGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTGG GAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTG CGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTGGGAGGCGG TTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GATTGGGGGTCGTGGGAGGCGGTTCTCGGGGTTGGCGGGGTGGTGGGAGG CGGTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCCCGGGGTTGGTCGGT GGGGGCAGGCGGTTCCCGGGGTTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977728	A A	ACCAACCC others(644): Show ACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG AGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCT CCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGA GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCC CG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03209.hp2 HG03098.hp1 HG03209.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0231 a0002c0005t0005g0232 a0002c0005t0005g0231 a0002c0005t0005g0232	2	408	0.0049	651	c.215 others(670): Show c.2150-1105_2150-1104insCGGGGTGGTGGGAGGCGGTTCCCGGG GTTGCGGGGGGAGTGGGAGGCGGTTCTCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGG TGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGG TGGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTGG GAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTG CGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTGGGAGGCGG TTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GATTGGGGGTCGTGGGAGGCGGTTCTCGGGGTTGGCGGGGTGGTGGGAGG CGGTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCCCGGGGTTGGTCGGT GGGGGCAGGCGGTTCCCGGGGTTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCCTAC others(644): Show CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCC CCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCA CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0007 a0003c0003t0004g0007	1	376	0.0027	651	c.15 others(662): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(644): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CCGGCCCCCGGCTCTCACCTCCTACCCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCT ACCCCGGCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCC CTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCA CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0140	1	376	0.0027	651	c.15 others(662): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGG TGAGAGCCGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PKNOX1_chr21_42969562_43038931	43029732	A A	AGAAACAG others(644): Show AGAAACAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTCACCAGGATGGTCTTGATCTC CTGACCTCGTTATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAG GCATGAGCTACCGCGCCCGGCCCAGAAACAGTTTCTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20805.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0032 a0001c0001t0019 a0001c0001t0032	a0001c0001t0019g0286 a0001c0001t0032g0291 a0001c0001t0019g0286 a0001c0001t0032g0291	2	362	0.0055	651	c.110 others(668): Show c.1100-148_1100-147insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTCACCAGGATG GTCTTGATCTCCTGACCTCGTTATCCGCCTGCCTCAGCCTCCCAAAGTGC TGGGATTACAGGCATGAGCTACCGCGCCCGGCCCAGAAACAGTTTCTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGAAACAGTTT	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PLEKHN1_chr1_961482_980865	977728	A A	ACCAACCC others(644): Show ACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG AGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGA GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01433.hp1 HG02257.hp2 others(9): Show HG00741.hp1 HG01433.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02896.hp1 HG03041.hp1 HG03540.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0009 a0001c0011 others(3): Show a0001c0001 a0001c0009 a0001c0011 a0002c0002 a0003c0003 a0005c0014	a0001c0001t0020 a0001c0009t0010 a0001c0009t0027 others(7): Show a0001c0001t0020 a0001c0009t0010 a0001c0009t0027 a0001c0011t0005 a0001c0011t0011 a0002c0002t0029 a0003c0003t0001 a0003c0003t0005 a0003c0003t0020 a0005c0014t0005	a0001c0001t0020g0019 a0001c0009t0010g0015 a0001c0009t0027g0095 others(9): Show a0001c0001t0020g0019 a0001c0009t0010g0015 a0001c0009t0027g0095 a0001c0011t0005g0009 a0001c0011t0005g0092 a0001c0011t0011g0158 a0002c0002t0029g0148 a0003c0003t0001g0034 a0003c0003t0005g0007 a0003c0003t0005g0045 a0003c0003t0020g0019 a0005c0014t0005g0061	12	422	0.0284	651	c.31 others(662): Show c.3153_*3154insCCAACCCCGGGAACCGCCTGCCCCCACCGACCAA CCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACC ACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAATCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACCACCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCC CGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCACCAACCCCGAGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACCACCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1864		chr1	TogoVar

Search by Variant

Search

Search Results