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
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(383): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGAGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGTGAGTGTG GGAGGGTGTGGGGTGGGGTGAGTGTGTGGGAGGGTGTGGGGTGGGGGTGA GCATGAGTGTGGGAGGGTGTGGGGGTGTGAGTGTGGGAGGGTGTGGGGTG GGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGACTGGGAGAG TGTGGGGTGGGGGTGAATGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGTG AGTGTGGGAGGGTGTGGGGTGGGGTGTGTGAATGGGGTGGATGTGTGTGT GAGCGTGGGTTTGTGGGTGTGTGTCAGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0108 a0001c0001t0053g0108	1	64	0.0156	390	c.-10 others(407): Show c.-10-3787_-10-3786insCCACACCACACACCCTGACACACACCCA CAAACCCACGCTCACACACACATCCACCCCATTCACACACCCCACCCCAC ACCCTCCCACACTCACACCCCCACCCCACACCCTCCCACACTCACATTCA CCCCCACCCCACACTCTCCCAGTCACACTCACCCCCACCCCACACCCTCC CATGCTCTCACCCCACCCCACACCCTCCCACACTCACACCCCCACACCCT CCCACACTCATGCTCACCCCCACCCCACACCCTCCCACACACTCACCCCA CCCCACACCCTCCCACACTCACACCCCCACCCCACACCCTCCCACACTCA CGCTCACCTCCTACCCCACACCCAGACACACACCCACACACACCCATACT CTCACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GPALPP1_chr13_44984538_45035305	45019080	T T	TATACATA others(383): Show TATACATATATATGTATATATATGTATGTATACATGTATACATACATATA AATATATGTATATATACATGTATACATACATATAAATATATGTATGTATA CATGTATACATACATATAAATATATGTATGTATACATGTATACATACATA TAAATATATGTATGTATACATACGTATATATACATGTATAATACATATAT ATTTATATGTATATATACATACGTATATATACATGTATCATACATATAAA TATATATTTATATGTATGATACATGTATACATACGTATAAATATATATGT ATGTATACATGTATCATACATATAAATATATACATATAAATTTATATGTA TATATACATGTATACATACATATATATTTATGTATATATAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG02004.hp2 others(22): Show HG00408.hp2 HG00621.hp1 HG02004.hp2 HG02040.hp2 HG02135.hp1 HG02155.hp2 HG03834.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18992.hp1 NA18995.hp1 NA18998.hp1 NA19070.hp2 NA19079.hp1 NA19084.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0046 others(20): Show a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0046 a0001c0001t0003g0201 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0022g0232	25	323	0.0774	390	c.706 others(407): Show c.706-1249_706-1248insTACATATATATGTATATATATGTATGTA TACATGTATACATACATATAAATATATGTATATATACATGTATACATACA TATAAATATATGTATGTATACATGTATACATACATATAAATATATGTATG TATACATGTATACATACATATAAATATATGTATGTATACATACGTATATA TACATGTATAATACATATATATTTATATGTATATATACATACGTATATAT ACATGTATCATACATATAAATATATATTTATATGTATGATACATGTATAC ATACGTATAAATATATATGTATGTATACATGTATCATACATATAAATATA TACATATAAATTTATATGTATATATACATGTATACATACATATATATTTA TGTATATATACA	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPALPP1_chr13_44984538_45035305	45019080	T T	TATACATA others(383): Show TATACATATATATGTATATATATGTATGTATACATGTATACATACATATA AATATATGTATATATACATGTATACATACATATAAATATATGTATGTATA CATGTATATATACATATAAATATATGTATGTATACATGTATACATACATA TAAATATATGTATGTATACATACGTATATATACATGTATAATACATATAT ATTTATATGTATATATACATACGTATATATACATGTATCATACATATAAA TATATATTTATATGTATGATACATGTATACATACGTATAAATATATATGT ATGTATACATGTATCATACATATAAATATATACATATAAATTTATATGTA TATATACATGTATACATACATATATATTTATGTATATATAC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	299	0.0033	390	c.706 others(407): Show c.706-1249_706-1248insTACATATATATGTATATATATGTATGTA TACATGTATACATACATATAAATATATGTATATATACATGTATACATACA TATAAATATATGTATGTATACATGTATATATACATATAAATATATGTATG TATACATGTATACATACATATAAATATATGTATGTATACATACGTATATA TACATGTATAATACATATATATTTATATGTATATATACATACGTATATAT ACATGTATCATACATATAAATATATATTTATATGTATGATACATGTATAC ATACGTATAAATATATATGTATGTATACATGTATCATACATATAAATATA TACATATAAATTTATATGTATATATACATGTATACATACATATATATTTA TGTATATATACA	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346526	A A	AGACCCAG others(383): Show AGACCCAGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGT GGCTGAGAGCAGACCCAGGAGGATCTCTGTGGCCGAGAGCAGACCCAGGA GGACCTCTGTGGCTGAGAGTGGACCTGGGAGGACCTCTGTGGCAAAGAGC AGACCCGGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGT GGCTGAGAGCAGACCCAGGAGGATCTCTGTGGCTGAGAACAGACCCGGGA GGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGCTGACAGT GGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGT GCCTGACAGTGGACCCGGGAGGACCTCTGTGCCTGACAGTG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	241	0.0041	390	c.466 others(407): Show c.466-1568_466-1567insCACTGTCAGGCACAGAGGTCCTCCCGGG TCCACTGTCAGGCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGG TCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCCGGGTCTGCTCTTG TCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGATCCTCCTGGG TCTGCTCTCAGCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGG TCCTCCCGGGTCTGCTCTTTGCCACAGAGGTCCTCCCAGGTCCACTCTCA GCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGATCCTCCTGGG TCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGG TCCTCCTGGGTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GUCY1A2_chr11_106669019_107023476	106709971	A A	ACATGTAT others(383): Show ACATGTATATAACATATACTTATATATTATATACATGTATATAACATATA CTTATATATTATATACATGTATATAACATATACTTATATATTATATACAT GTATATAACATATACTTATATATTATATACATGTATATAACATATACTTA TATATTATATACATGTATATAACATATAGTTATGTATATTATATACATGT ATATAACATATAGTTATGTATATTATATACATGTATATAACATATAGTTA TGTATATTATATACATGTATATAACATATAGTTATGTATATTATATACAT GTATATAACATATAGTTATGTATATTATATACATGTATATAACATATAGT TATGTATATTATATACATGTATATAACATATAGTTATGTAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0232 a0001c0003t0003g0232	1	110	0.0091	390	c.183 others(409): Show c.1837-1306_1837-1305insATACATAACTATATGTTATATACATG TATATAATATACATAACTATATGTTATATACATGTATATAATATACATAA CTATATGTTATATACATGTATATAATATACATAACTATATGTTATATACA TGTATATAATATACATAACTATATGTTATATACATGTATATAATATACAT AACTATATGTTATATACATGTATATAATATACATAACTATATGTTATATA CATGTATATAATATATAAGTATATGTTATATACATGTATATAATATATAA GTATATGTTATATACATGTATATAATATATAAGTATATGTTATATACATG TATATAATATATAAGTATATGTTATATACATGTATATAATATATAAGTAT ATGTTATATACATG	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(383): Show TGTTATGTGATATTCCGGTGTGCCGGCGTGTGGCCACGTTATATGACATT CCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGAGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCACGTTATATGACATTCCGCGTTATATGACATTCCACGTTATGTGACAT TCCGGTGTGCTGGCGTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00544.hp2 others(17): Show HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00558.hp1 HG00741.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01975.hp2 HG02132.hp2 HG02602.hp1 HG03471.hp1 HG03834.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0024 a0001c0027 a0001c0028	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0009 a0001c0002t0012 a0001c0002t0023 a0001c0002t0058 a0001c0006t0011 a0001c0006t0048 a0001c0007t0003 a0001c0008t0001 a0001c0012t0030 a0001c0012t0050 a0001c0024t0069 a0001c0027t0009 a0001c0028t0013	a0001c0001t0002g0195 a0001c0001t0003g0141 a0001c0001t0003g0147 others(17): Show a0001c0001t0002g0195 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0002t0001g0110 a0001c0002t0009g0100 a0001c0002t0009g0170 a0001c0002t0009g0172 a0001c0002t0009g0184 a0001c0002t0012g0242 a0001c0002t0023g0191 a0001c0002t0058g0142 a0001c0006t0011g0157 a0001c0006t0048g0062 a0001c0007t0003g0078 a0001c0008t0001g0187 a0001c0012t0030g0225 a0001c0012t0050g0153 a0001c0024t0069g0106 a0001c0027t0009g0148 a0001c0028t0013g0215	20	37	0.5405	390	c.153 others(409): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAACGCGGAA TGTCATATAACGTGGCCGCACGCCAGCACACCGGAATGTCACATAACGTG GAATGTCATATAACGCGGCCACACGCCGGCACACCAGAATGTCATATAAT GCGGCCACACGCCGGCACTCCGGAATGTCATATAACGTGGAATGTCATAT AACGTAGCCACACGCCAGCACACCAGAATGTCACATAACATGGAATGTCA TATAACACGGCCACACGCTGGCACACCGGAATGTCATATAACGCGGCCAC ACGCCGGCACACCGGAATGTCATATAACGTGGCCACACGCCGGCACACCG GAATATCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(383): Show TGTTATGTGATATTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATT CCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGAGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCACGTTATATGACATTCCGCGTTATATGACATTCCACGTTATGTGACAT TCCGGTGTGCTGGCGTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03540.hp2 NA20300.hp2 HG03225.hp2 HG03540.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0036 a0001c0001 a0001c0004 a0001c0036	a0001c0001t0031 a0001c0004t0073 a0001c0036t0072 a0001c0001t0031 a0001c0004t0073 a0001c0036t0072	a0001c0001t0031g0092 a0001c0004t0073g0016 a0001c0036t0072g0129 a0001c0001t0031g0092 a0001c0004t0073g0016 a0001c0036t0072g0129	3	20	0.1500	390	c.153 others(409): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAACGCGGAA TGTCATATAACGTGGCCGCACGCCAGCACACCGGAATGTCACATAACGTG GAATGTCATATAACGCGGCCACACGCCGGCACACCAGAATGTCATATAAT GCGGCCACACGCCGGCACTCCGGAATGTCATATAACGTGGAATGTCATAT AACGTAGCCACACGCCAGCACACCAGAATGTCACATAACATGGAATGTCA TATAACACGGCCACACGCTGGCACACCGGAATGTCATATAACGCGGCCAC ACGCCGGCACACCGGAATGTCATATAACGCGGCCACACGCCGGCACACCG GAATATCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HOMEZ_chr14_23267422_23291132	23280705	T T	TATATTTT others(383): Show TATATTTTATTTTATTTTATTTTTGTTTATTTTATTTTATTTTTGTTTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	351	0.0028	390	c.41- others(405): Show c.41-3519_41-3518insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAAACAAAAATAAAATAAAATAAACAAAAATAAAATAA AATAAAATAT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
ICA1_chr7_8108184_8267167	8152561	C C	CACCATCT others(383): Show CACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACCTCTT CCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATT ATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCAC CATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCA CCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACC ATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTC CACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCA TCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0124 a0001c0002t0003g0124	1	255	0.0039	390	c.804 others(407): Show c.804+4554_804+4555insAGTGGTGGTGGAGGAGATGGTGGTAGTG GTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGAT GGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGG TGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTG ATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGT GGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGG TGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATG GTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGT GAAGGAGATGGT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33323542	A A	ATGTGGAA others(383): Show ATGTGGAATATATATATGTGGAATATATATGTGGAATATATATATGTGGA ATATATATGTGGAATATATATATGTGGAATATATATATGTGGAATATATA TGTGGAATATATATATGTGGAATATATATGTGGAATATATATATGTGGAA TATATATGTGGAATATATATATATGGAATATATATGTGGAATATATATAT ATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATAT ATATATGTGGAATATATATGTGGAATATATATGTGGAATATATATATATG GAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATATA TATATGGAATATATGTGGAATATATATATATGGAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0117 a0003c0003t0009g0119 a0003c0003t0009g0117 a0003c0003t0009g0119	2	287	0.0070	390	c.-15 others(401): Show c.-1514_-1513insTGTGGAATATATATATGTGGAATATATATGTGGA ATATATATATGTGGAATATATATGTGGAATATATATATGTGGAATATATA TATGTGGAATATATATGTGGAATATATATATGTGGAATATATATGTGGAA TATATATATGTGGAATATATATGTGGAATATATATATATGGAATATATAT GTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAAT ATATATGTGGAATATATATATGTGGAATATATATGTGGAATATATATGTG GAATATATATATATGGAATATATATGTGGAATATATATATATGGAATATA TATGTGGAATATATATATATGGAATATATGTGGAATATATATATATGGAA TATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1427		chr21	TogoVar
KCNMB2_chr3_178531436_178849429	178758786	T T	TCTCCAAA others(383): Show TCTCCAAAAGGAGATATATATATATATATATCTCCAAAAGGAGATATATA TATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGA TATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGA GATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAG GAGATATATATATATATATATATCTCCAAGAGGAGATATATATATATATA TATCTCCAAGAGGGATATATATATATATATATATATATATATATATATCT CCAAGAGGGATATATATATATATATATATATATATATATATATATATATA TCTCCAAGAGGGATATATATATATATATCTCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	178	0.0056	390	c.-67 others(409): Show c.-67-48557_-67-48556insCTCCAAAAGGAGATATATATATATAT ATATCTCCAAAAGGAGATATATATATATATATATCTCCAAGAGGAGATAT ATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGAT ATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAG ATATATATATATATCTCCAAGAGGAGATATATATATATATATATATCTCC AAGAGGAGATATATATATATATATATCTCCAAGAGGGATATATATATATA TATATATATATATATATATATCTCCAAGAGGGATATATATATATATATAT ATATATATATATATATATATATATCTCCAAGAGGGATATATATATATATA TCTCTCCAAGAGGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63442782	C C	CCATTACC others(383): Show CCATTACCACCACCATCACCATCACCATCACCACCACCACCACCACCACC ATCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCAC CATCACCACCACCACCACCACCATCACCACCATCACCACCATCACCACCA CCACCACCATCACCACCATCACCATCACCACCATCACCATCACCACCATC ACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCAC CACCACCATCACCATCACCACCACCATCACCATTATCACCACCACCATCA CCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATTATC ACCACCACCATCACCACCATCACCATCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0043 a0001c0002t0074g0043	1	195	0.0051	390	c.691 others(405): Show c.691-252_691-251insATGGTGATGGTGGTGATGGTGATGGTGGTG ATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGT GGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGG TGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTG GTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGT GGTGGTAATG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(383): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATATATAAATATATATTTTTATATATATTTATGTATA TATTTATATATAAATATATATTTATATATTTATATATATTTATATATATA CATAAATATATATTTATATATATTTATATATATACATAAATATATATTTA TATATAAATATATATTTATATATTTATATATATACATAAATATATATTTA TATATAAATATATATTTATATATTTATATATATTTATATACATAAATATA TATTTATATATATTTATATACATAAATATATATTTATATATATTTATATA TATTTATATACATAAATATATATTTATATATATTTATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	50	0.0200	390	c.639 others(407): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATATTTATGTATATAAATATATATAAATATATAAAT ATATATTTATATATAAATATATATTTATGTATATATATAAATATATAAAT ATATATTTATATATAAATATATATTTATGTATATATATAAATATATATAA ATATATATTTATGTATATATATAAATATATATAAATATATAAATATATAT TTATATATAAATATATACATAAATATATATAAAAATATATATTTATATAT AAATATATATAAAAATATATATTTATATATAAATATATTTATGTATATAA ATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(383): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATGTATATATTTATATATAAATATATATTTATATATT TATATATATTTATGTATATACATAAATATATATTTATATATATTTATATA TATACATAAATATATATTTATATATAAATATATATTTATATATTTATATA TATTTATATACATAAATATATATTTATATATATTTATATATATTTATATA CATAAATATATATTTATATATATTTATATACATAAATATATATTTATATA CATAAATATATATTTATATATATTTATATACATAAATATATATTTATATA TATTTATATACATAAATATATATTTATATATATTTATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	50	0.0200	390	c.639 others(407): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATATTTATGTATATAAATATATATTTATGTATATAAATATATATAA ATATATATTTATGTATATAAATATATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATAAATATATATTTATATATAAATAT ATATTTATGTATATATATAAATATATATAAATATATATTTATGTATATAC ATAAATATATATAAATATATAAATATATATTTATATATAAATATATACAT AAATATATATAAAAATATATATTTATATATAAATATATTTATGTATATAA ATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(383): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGG TCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGG TCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATAGGGTC GGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	304	0.0033	390	c.-22 others(401): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAAT CTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATC TGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGC AGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
KLK6_chr19_50953631_50974591	50959670	G G	GAGAGAGA others(383): Show GAGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGA GGAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAG GGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGA AGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGG GGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA AGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGG AGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	313	0.0032	390	c.583 others(405): Show c.583-355_583-354insTCCTCCTCCTCCCCCTCCCCCTCCTCCTGC CCTCCTCCCCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCT CATTTTCTCCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTT CCTCTTCCTCTTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCC TCTCCCTCTCCCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTC CTTCTTCCTCTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCT CCTCCATCTCCCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCT CTTCCCTCTCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTC TTTTCTCTCT	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LHPP_chr10_124456823_124619141	124506998	G G	GAGGATTT others(383): Show GAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTCGGGGGGTTAGAG AGGATTTCAGGTGGGAGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACA GGATTTCAGGTGGGGGGATAGGGAAGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGGGTAGACAGG ATTTCAGGTGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTC AGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0005 a0003c0003t0002g0005	1	229	0.0044	390	c.624 others(407): Show c.624+8882_624+8883insGCAGGGGTAGACAGGATTTCAGGTCGGG GGGTTAGAGAGGATTTCAGGTGGGAGGGTAGGCAGGATTTCAGGTCAGGG GGATAGACAGGATTTCAGGTGGGGGGATAGGGAAGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGG GTAGACAGGATTTCAGGTGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(383): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGTGTAC AGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCAG TTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCGCCTGCCACC ACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT GACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	54	0.0185	390	c.116 others(405): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCG CCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCT CCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTA CAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAA GTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(383): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGTGTAC AGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCAG TTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCGCCTGCCACC ACACCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCTTGTT GACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp2 others(52): Show HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01516.hp2 HG01884.hp2 HG01952.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02683.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18962.hp2 NA19240.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0001 a0002c0002t0009 a0002c0002t0010 others(2): Show a0002c0002t0001 a0002c0002t0009 a0002c0002t0010 a0002c0002t0017 a0002c0009t0001	a0002c0002t0001g0005 a0002c0002t0001g0019 a0002c0002t0001g0020 others(51): Show a0002c0002t0001g0005 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0009g0350 a0002c0002t0009g0351 a0002c0002t0010g0223 a0002c0002t0010g0237 a0002c0002t0017g0245 a0002c0009t0001g0228	55	108	0.5093	390	c.116 others(405): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCG CCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCT CCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTA CAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGGAGACG GGGTTTCACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAA GTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(383): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGT CGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGT CGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0040 a0001c0004t0040	a0001c0004t0040g0003 a0001c0004t0040g0003	1	303	0.0033	390	c.-43 others(401): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGG GGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCG TGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGG GGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(383): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02698.hp1 HG03239.hp1 others(3): Show HG02074.hp1 HG02698.hp1 HG03239.hp1 HG03579.hp1 NA18942.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0061 a0001c0012t0004	a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0008g0001 others(2): Show a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0008g0001 a0001c0001t0061g0001 a0001c0012t0004g0001	6	308	0.0195	390	c.-43 others(401): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(383): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	220	0.0045	390	c.-43 others(401): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(383): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG03041.hp1 others(1): Show HG02109.hp2 HG02486.hp1 HG03041.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0006g0002 a0001c0001t0001g0002 a0001c0001t0006g0002	4	223	0.0179	390	c.-43 others(401): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(383): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 NA18948.hp1 NA18986.hp2 HG04204.hp2 NA18948.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	222	0.0135	390	c.-43 others(401): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513834	A A	GAGGGGTC others(383): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	3	0.3333	390	c.-43 others(400): Show c.-4319delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGT	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4158		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132364455	T T	TTACACCC others(383): Show TTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCACACTTACACCCACCCACACTTACAC CCACCCACACTTACACCCACACTTACATCTACCTCCACGCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0249 a0001c0001t0005g0249	1	286	0.0035	390	c.129 others(407): Show c.1290-969_1290-968insTACACCCACCCACACTTACACCCACGCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACC CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTTACACTCATGCTTACATCTACC TCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTA CCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATC TACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCACACT TACACCCACCCACACTTACACCCACCCACACTTACACCCACACTTACATC TACCTCCACGCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(383): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTC TTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTTCCTTTCTTTCCTTT CTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0153 a0004c0005t0001g0153	1	378	0.0026	390	c.40 others(401): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGGAAAGAA AGGAAAGAAAGGAAAGAAAGGAAAAGGAAAGAAAGGAAAGAAAGGAAAGA AAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAAGGAAAG AAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGAAAGAAAGAA AGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAN1A2_chr1_117362449_117533872	117371193	A A	ATACTGTA others(383): Show ATACTGTATATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGGAGGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAGTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0211 a0001c0001t0055g0211	1	368	0.0027	390	c.302 others(407): Show c.302+2723_302+2724insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGGAGGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAGTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT TTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTAC TGTATATTTTCT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(383): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATTCATATATA TTCATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATT CATATATATATTCATATATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	109	0.0092	390	c.343 others(407): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT ATGAATCTATATATGAATATATATGAATCTATATATGAATATATATGAAT CTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(383): Show ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGC ACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0025 a0025	a0025c0031 a0025c0031	a0025c0031t0032 a0025c0031t0032	a0025c0031t0032g0275 a0025c0031t0032g0275	1	83	0.0120	390	c.377 others(407): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(383): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0076 a0076	a0076c0052 a0076c0052	a0076c0052t0001 a0076c0052t0001	a0076c0052t0001g0074 a0076c0052t0001g0074	1	83	0.0120	390	c.377 others(407): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(383): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19003.hp1 HG00609.hp1 NA19003.hp1	a0027 a0041 a0027 a0041	a0027c0035 a0041c0023 a0027c0035 a0041c0023	a0027c0035t0004 a0041c0023t0001 a0027c0035t0004 a0041c0023t0001	a0027c0035t0004g0058 a0041c0023t0001g0169 a0027c0035t0004g0058 a0041c0023t0001g0169	2	84	0.0238	390	c.377 others(407): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(383): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0181 a0013c0018t0001g0181	1	83	0.0120	390	c.377 others(407): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(383): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCAGCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0044 a0044	a0044c0043 a0044c0043	a0044c0043t0018 a0044c0043t0018	a0044c0043t0018g0124 a0044c0043t0018g0124	1	83	0.0120	390	c.377 others(407): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGCTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
METRNL_chr17_83074609_83100122	83090493	C C	CCCACACA others(383): Show CCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCC CGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCC AGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACAC ACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCC GCCCCAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCA CACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCAC CCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGG AGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	391	0.0026	390	c.557 others(407): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAG GGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACAC CCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGC CCCAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACA CACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCC CCCGCCCCAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGGAG CCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACA CACCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGGA others(383): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGT CGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGT CGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	336	0.0030	390	c.26 others(401): Show c.2627_*2628insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGG GGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCG TGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGG GGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCG	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2579		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGGA others(383): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	336	0.0030	390	c.26 others(401): Show c.2627_*2628insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCG	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2579		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(383): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	390	c.26 others(401): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(383): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG03041.hp1 others(1): Show HG02109.hp1 HG02486.hp1 HG03041.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	213	0.0188	390	c.26 others(401): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(383): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 NA18948.hp1 NA18986.hp2 HG04204.hp1 NA18948.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	212	0.0142	390	c.26 others(401): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(383): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG02074.hp2 HG02698.hp2 others(2): Show HG01981.hp1 HG02074.hp2 HG02698.hp2 HG03239.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0001g0001 a0001c0001t0004g0001	5	203	0.0246	390	c.26 others(400): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2621		chr8	TogoVar
MPPED1_chr22_43407014_43512848	43499707	A A	ATGGTGGT others(383): Show ATGGTGGTGGTGATGGAGGTGGTGATGGTGGTGGTGATGGAGGTGGTGGT GATGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGA TGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGATGGAGGTGGTG ATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGA GGTGGTGGTGGTGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGG TGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGT GATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0239 a0001c0003t0011g0239	1	194	0.0052	390	c.748 others(407): Show c.748+1384_748+1385insTGGTGGTGATGGAGGTGGTGGTGATGGT GGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGATGGAGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGT GGTGGTGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTG GTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGATGG AGGTGGTGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSH4_chr1_75791882_75918242	75885668	T T	TTATTATA others(383): Show TTATTATATATTATAATATATTATATATTATAATATATATTATATATTAT AATATATTATATATTATAATATATATTATATATTATATATTATAATATAT ATACCTGATATATTTAAGGTATTATATATAATACCTTATATATTATATAT ATAATACCTTATAAGGTATTATATATAATATTATATATTATATATAATAT ATATATTATATATAATATATAAATGTATATATTATATATTATACATATAT ATTATATACATATATTATATATAATATATATTTTATATATTATATATGTA TATATGTAATATATATAACCTTCACATTTATTTCAGTTATATAATGTGAA GGTAATATATATATGTTATTTTGTGTATATATAAAGTATTA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	95	0.0105	390	c.210 others(409): Show c.2107+1850_2107+1851insTATATATTATAATATATTATATATTA TAATATATATTATATATTATAATATATTATATATTATAATATATATTATA TATTATATATTATAATATATATACCTGATATATTTAAGGTATTATATATA ATACCTTATATATTATATATATAATACCTTATAAGGTATTATATATAATA TTATATATTATATATAATATATATATTATATATAATATATAAATGTATAT ATTATATATTATACATATATATTATATACATATATTATATATAATATATA TTTTATATATTATATATGTATATATGTAATATATATAACCTTCACATTTA TTTCAGTTATATAATGTGAAGGTAATATATATATGTTATTTTGTGTATAT ATAAAGTATTATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767642	G G	GGGGGCCG others(383): Show GGGGGCCGTGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGG AGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCA CGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGG GGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGG GGGCGCGTGGGGGTGTGTGGGGGGGGGCACGTGGAGGGGGGCGTGTGGGG GGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCG CGTGGAGGGGGGGCGTGTGGGGGGGGTGCGTGGAGGAGGGGCCCGTGGAG GAGGGGCGCGTGGAGGGGGGGCGTGTGGGGGGGTGCGTGGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	360	0.0028	390	c.159 others(407): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGGCGCATGGGGGG GCGTGGAGGGGGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAG GGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCG TGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGC GCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGGCAC GTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAG GGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCGTGTGGGGGGGGTGCG TGGAGGAGGGGCCCGTGGAGGAGGGGCGCGTGGAGGGGGGGCGTGTGGGG GGGTGCGTGGAG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTTP_chr4_99569824_99628997	99588843	A A	ACATATAT others(383): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATTCATATATAT GTTCATATATATATTCATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0062 a0006c0006t0004g0062	1	297	0.0034	390	c.394 others(405): Show c.394-791_394-790insGTTCATATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATTCATATATATGTTCATATATATATTCATATATATGTTCATATATAT TCATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588843	A A	ACATATAT others(383): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0005 a0006c0006t0005	a0006c0006t0005g0010 a0006c0006t0005g0010	2	298	0.0067	390	c.394 others(405): Show c.394-791_394-790insGTTCATATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATTCATATATATGTTCATATATATTCATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588846	T T	TATATATG others(383): Show TATATATGTTCATATATATATTCATATATATATGTTCATATATATTCATA TATATGTTCATATATATATTCATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATGTTCA TATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0059 a0006c0006t0001g0059	1	362	0.0028	390	c.394 others(405): Show c.394-791_394-790insGTTCATATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATTCATATATATGTTCATATATATATTCATATATATGTTCATATATAT TCATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUC4_chr3_195741771_195816929	195776665	C C	CGCACCCA others(383): Show CGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCACGGCCATACCTTCCACGGCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCTTACCTTC CACACCCATACCTTCCACGGCCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCGCACCCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCGCACCCATACCTTC CACAGTCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAT CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0066 a0066	a0066c0118 a0066c0118	a0066c0118t0004 a0066c0118t0004	a0066c0118t0004g0229 a0066c0118t0004g0229	1	248	0.0040	390	c.129 others(411): Show c.12943+1637_12943+1638insTGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGATGCGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGCCG TGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTAT GGCCGTGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGGGTGC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777600	C C	CCATACCT others(383): Show CCATACCTTCCACAGTCATACCTTCCACACCCTTACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACGG CCATACCTTCCACACCCTTACCTTCCACACCCTTACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACATCCATACCTTCCACGCCCATACCTTCCACAT CCATACCTTCCACGCCCATACCTTCCACGCCCATACCTTCCACAGTCATA CCTTCCACGCCCATACCTTCCACGCCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0060 a0060	a0060c0160 a0060c0160	a0060c0160t0009 a0060c0160t0009	a0060c0160t0009g0222 a0060c0160t0009g0222	1	190	0.0053	390	c.129 others(409): Show c.12943+702_12943+703insACTGTGGAAGGTATGGGCGTGGAAGG TATGGGCGTGGAAGGTATGACTGTGGAAGGTATGGGCGTGGAAGGTATGG GCGTGGAAGGTATGGATGTGGAAGGTATGGGCGTGGAAGGTATGGATGTG GAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGG TATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGG GTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTG GAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGG TATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGA CTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777898	A A	ACCCATAC others(383): Show ACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAGTCA TACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCT TCCACACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCAC ATCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCA TACCTTCCACAGTCATACCTTCCACGGCCATACCTTCCACACCCATACCT TCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCAC ACCCATACCTTCCACATCCATACCTTCCACACCCATACCTTCCACACCCA TACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0069 a0069	a0069c0124 a0069c0124	a0069c0124t0001 a0069c0124t0001	a0069c0124t0001g0172 a0069c0124t0001g0172	1	58	0.0172	390	c.129 others(409): Show c.12943+404_12943+405insCGTGGAAGGTATGACTGTGGAAGGTA TGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGAT GTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGA AGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTA TGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGT GTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGA AGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTA TGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAAGGGT GTGGAAGGTATGGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar

Search by Variant

Search

Search Results