Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BRF1_chr14_105204286_105306001	105239346	GCAGCCCC others(197): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	64	0.0156	-204	c.694 others(17): Show c.694+1715_694+1918del		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17						chr14	TogoVar
BRF1_chr14_105204286_105306001	105239353	CGTGGCAC others(197): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACA GCCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02273.hp1 HG00323.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0011 a0001c0001t0001g0043	2	36	0.0556	-204	c.694 others(17): Show c.694+1708_694+1911del		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17						chr14	TogoVar
C1orf74_chr1_209774208_209789559	209780019	CAGGGTGG others(197): Show CAGGGTGGCTAAAAAACCATCTTTAACCATATGAAGATAAATTTTAGGAT ATGACTGCCATCTTCACAACTTTCAAATGAGGACATCAGGGAAAAGGGAT TGTATTAAAGCATTTACCAAACTTATTTGACAAACTAGGAAGAATGTGAC ATACAACCAATGAAATTCAATTAAGAAGTATTCACTAAAACTATCTAGCA CTAGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0022 a0001c0001t0019g0022	1	444	0.0023	-204	c.26 others(11): Show c.2602_*2805del		C1orf74	ENSG00000162757.4	transcript	ENST00000294811.2	protein_coding	2/2				2602		chr1	TogoVar
CACNG8_chr19_53957937_53995215	53962568	TAGCGGTG others(197): Show TAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGACGA CTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTCATCTTATTTATTA ATTATTAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGG GATGACTTTCTTGGGCAGAAGACAAGAGTGGAGAGAGATTTCATCTTATT TATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19066.hp1 NA19010.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0141 a0001c0001t0036 a0001c0001t0141	a0001c0001t0036g0083 a0001c0001t0141g0225 a0001c0001t0036g0083 a0001c0001t0141g0225	2	390	0.0051	-204	c.-57 others(9): Show c.-574_-371del		CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding					368		chr19	TogoVar
CCDC73_chr11_32597721_32799662	32755855	GTGTATAT others(197): Show GTGTATATATCTCCATATATATATCTGTGTATATATCTCCATATATATCT ATATATATCTCCATATATATATCTATATATATATCTCCATATATATATCT ATATATATATCTCCATATATATATCTATATATATATCTCCATATATATAT CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0252 a0001c0005t0001g0252	1	308	0.0032	-204	c.135 others(17): Show c.135+4050_135+4253del		CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17						chr11	TogoVar
CDK12_chr17_39456486_39539544	39498873	CTCTTTCT others(197): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	253	0.0040	-204	c.242 others(19): Show c.2420-2246_2420-2043del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP46_chr10_132803392_132947570	132887776	TTCTCTCT others(197): Show TTCTCTCTCCTCTCCTCTCCCCTCTTCTCTCCTCTCCCCTCTTCTCTCCT CTCCCTTCTTCTCTCTCCTCTCCTCTCCCCTTCTCTCCTCTCCCTTCTTC TCTCTCCTCTCCTCTCTCCTCTTCTCTCCTCTCCCTTCTTCTCTCTCCTC TCCTCTCTCCTCTTTCACCTCTCTCTCTCCGCTCCTCTCTCTCTCCGCTC CTCTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03486.hp2 HG02615.hp2 HG03486.hp2	a0010 a0050 a0010 a0050	a0010c0072 a0050c0071 a0010c0072 a0050c0071	a0010c0072t0002 a0050c0071t0002 a0010c0072t0002 a0050c0071t0002	a0010c0072t0002g0004 a0050c0071t0002g0003 a0010c0072t0002g0004 a0050c0071t0002g0003	2	244	0.0082	-204	c.330 others(19): Show c.3305-2021_3305-1818del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57						chr10	TogoVar
CFAP47_chrX_35914734_36390317	36371632	ATATACAC others(197): Show ATATACACACATATGTGTATATATGTGTGTATATACACACATGTGTATAT ATGTGTGTATATACACACATGTGTATATATGTGTGTATATACACACATGT GTGTATATATGTGTGTATATACACACATGTGTGTATATACACACATGTGT ATATATGTGTGTATATACACACATGTATATATGTGTGCATATACACACAT GTGTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0171 a0002c0002t0001g0171	1	214	0.0047	-204	c.918 others(19): Show c.9185+4510_9185+4713del		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFD_chr19_854664_868641	866580	CTCCTCCC others(197): Show CTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCA TGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCC ATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCC CATCTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCACCAGCGCTC CCATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	147	0.0068	-204	c.33 others(11): Show c.3343_*3546del		CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding					2940		chr19	TogoVar
CHRM2_chr7_136863652_137025213	136972729	TGATGGTG others(197): Show TGATGGTGACGGTGTTAGGGATGGTGGCAGGTGACGATGGTGACGGTGTT AGGGATGGTGGCAGGTGACGATGGTGACGGTGTTAGGGATGGTGGCAGGT GACGATGGTGACGGTGTTAGGGATGGTGGCAGGTGACGATGGTGACGGTG TTAGGGATGGTGGCAGGTGACGATGGTGACGGTGTTAGGGATGGTGGCAG GTGAC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0173 a0001c0001t0005g0173	1	137	0.0073	-204	c.-12 others(21): Show c.-124-19288_-124-19085del		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CLUL1_chr18_591988_655182	596788	GGCGTCAC others(197): Show GGCGTCACCTGCAGGTCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCACC CGGCGTCACCTGCAGGCCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCAC CCGGCGTCACCTGCAGGCCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCA CCCGGCGTCACCTGCAGGCCCCGCCCACCCGGCGTCTGCAGGCCCCGCCC ACCCT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0015 a0006c0009t0001g0015	1	412	0.0024	-204	c.-47 others(9): Show c.-476_-273del		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	1/10				21009		chr18	TogoVar
COL18A1_chr21_45400165_45518720	45437728	GCACACAC others(197): Show GCACACACACACTCACACACTCAGACACAGGCACTCTCCTGCACACACAC ACACTCACTCACACACAGACACACAGGCACTCTCCTGCACACACTCACAC TCAGACAAGCACTCTCCTGCACACACTCACACTCACACTCAGACACACAG GCACTCTCCTGCACACACACACTCACTCAGACACAGGCACTCTCCTGCAC ACACA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02717.hp1 HG02258.hp2 HG02572.hp2 HG02717.hp1	a0008 a0021 a0008 a0021	a0008c0038 a0021c0091 a0008c0038 a0021c0091	a0008c0038t0001 a0021c0091t0011 a0008c0038t0001 a0021c0091t0011	a0008c0038t0001g0054 a0008c0038t0001g0174 a0021c0091t0011g0053 a0008c0038t0001g0054 a0008c0038t0001g0174 a0021c0091t0011g0053	3	270	0.0111	-204	c.107 others(19): Show c.107-30504_107-30301del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437974	ACTCACAC others(197): Show ACTCACACACTCAGACACACAGGCACTCTCCTGCACACACACACTCACTC ACACACAGACACACAGGCACTCTCCTGCACACACTCACACTCACACTCAG ACAAGCACTCTCCTGCACACACTCACACTCACACTCAGACACACAGGCAC TCTCCTGCACACACACACTCACTCAGACACAGGCACTCTCCTGCATACAC ACACT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0032 a0032	a0032c0092 a0032c0092	a0032c0092t0001 a0032c0092t0001	a0032c0092t0001g0124 a0032c0092t0001g0124	1	282	0.0035	-204	c.107 others(19): Show c.107-30266_107-30063del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A2_chr13_110302284_110518209	110313545	CGTCCACC others(197): Show CGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGC TCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCCGGTGCCC CGCGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAG GCTCCCACCCCGGTGCCCCGCGTCCACCCAGCAGGCTCCCACCCCAGTGC CCCGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00544.hp2 others(21): Show HG00140.hp1 HG00423.hp2 HG00544.hp2 HG00741.hp2 HG01433.hp1 HG01496.hp2 HG02027.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03927.hp1 NA18522.hp2 NA19043.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0012 a0018	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0101 a0002c0013 a0002c0019 a0002c0038 a0002c0041 a0002c0050 a0002c0056 a0002c0066 a0002c0090 a0003c0007 a0003c0010 a0004c0012 a0012c0034 a0018c0103	a0001c0001t0046 a0001c0002t0008 a0001c0003t0049 others(19): Show a0001c0001t0046 a0001c0002t0008 a0001c0003t0049 a0001c0004t0003 a0001c0005t0003 a0001c0101t0019 a0002c0013t0002 a0002c0019t0004 a0002c0038t0001 a0002c0041t0018 a0002c0050t0002 a0002c0056t0004 a0002c0066t0007 a0002c0090t0008 a0003c0007t0004 a0003c0007t0005 a0003c0007t0008 a0003c0010t0008 a0004c0012t0001 a0004c0012t0008 a0012c0034t0001 a0018c0103t0004	a0001c0001t0046g0283 a0001c0002t0008g0012 a0001c0003t0049g0274 others(21): Show a0001c0001t0046g0283 a0001c0002t0008g0012 a0001c0003t0049g0274 a0001c0004t0003g0140 a0001c0005t0003g0103 a0001c0101t0019g0129 a0002c0013t0002g0265 a0002c0019t0004g0365 a0002c0038t0001g0212 a0002c0041t0018g0003 a0002c0050t0002g0318 a0002c0056t0004g0266 a0002c0066t0007g0181 a0002c0090t0008g0041 a0003c0007t0004g0347 a0003c0007t0005g0169 a0003c0007t0005g0259 a0003c0007t0008g0038 a0003c0010t0008g0010 a0004c0012t0001g0163 a0004c0012t0008g0009 a0012c0034t0001g0196 a0012c0034t0001g0197 a0018c0103t0004g0302	24	328	0.0732	-204	c.99+ others(15): Show c.99+5447_99+5650del		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110313579	TGTCCACC others(197): Show TGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGC TCCCACCCCGGTGCCCCGCGTCCACCCGGCAGGCTCCCACCCCAGTGCCC CGTGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGCGTCCACCCAGCAG GCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCCGGTGC CCCGC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0342 a0001c0003t0002g0342	1	159	0.0063	-204	c.99+ others(15): Show c.99+5543_99+5746del		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
DCAKD_chr17_45018344_45056632	45051827	GCGGGGCC others(197): Show GCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTT GGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGA GAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGAC GCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGG GCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG00735.hp1 others(16): Show HG00558.hp2 HG00673.hp2 HG00735.hp1 HG01099.hp1 HG01255.hp1 HG01255.hp2 HG01934.hp1 HG02293.hp2 HG02965.hp2 HG03130.hp1 HG03486.hp2 HG03491.hp1 HG04115.hp1 NA18522.hp1 NA18747.hp2 NA18952.hp2 NA19056.hp1 NA19081.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0009 a0001c0001t0030 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0030 a0002c0003t0004 a0002c0003t0005	a0001c0001t0003g0002 a0001c0001t0003g0034 a0001c0001t0003g0289 others(12): Show a0001c0001t0003g0002 a0001c0001t0003g0034 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0009g0271 a0001c0001t0009g0292 a0001c0001t0030g0281 a0002c0003t0004g0294 a0002c0003t0005g0007 a0002c0003t0005g0035 a0002c0003t0005g0295 a0002c0003t0005g0296 a0002c0003t0005g0298 a0002c0003t0005g0299 a0002c0003t0005g0300	19	356	0.0534	-204	c.-78 others(9): Show c.-785_-582del		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding					196		chr17	TogoVar
DDX51_chr12_132131594_132149319	132135746	CCCGAGTG others(197): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCC CACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02970.hp1 HG02922.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	2	330	0.0061	-204	c.33 others(11): Show c.3322_*3525del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					847		chr12	TogoVar
DLGAP2_chr8_732628_1713476	895756	CGGTGTGG others(197): Show CGGTGTGGGGCAGTGGTGAGAGGTGTCAATCCCCAGGGTTTGTTGGATGG GGATGATAGTGGCTAGGTAGGTGTGGGGCAGTGGTGAGAGGTGTCAATCC CCAGGGTTTGTTGGATGGGGATGATAGTGGCTAGGTAGGTGTGGGGCAGT GGTGAGAGGTGTCAATCCCCAGGGTTTGTTGGATGGGGATGATAGTGGCT AGGTA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	17	0.0588	-204	c.19- others(17): Show c.19-11853_19-11650del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	933871	ATGGAGAC others(197): Show ATGGAGACACCTGGCCGTGGGCACGAGGGGAGGGTGAGGGCAGAGCCTGC TGTGGAGACACCTGGCCGTGGGCACGAGGGGAGGGTGAGGGCAGAGCCTG CTGTGGAGACACCTGGCCGTGGGCACGAGGGGAGGGTGAGGGCAGAGCCT GCTGTGGAGACACCTGGCCGTGGGCACGAGGGGAGGGTGAGGGCAGAGCC TGCTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	37	0.0270	-204	c.73+ others(17): Show c.73+26205_73+26408del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI2_chr17_74269234_74319884	74301866	GGAAGGAA others(197): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00642.hp1 others(46): Show HG00140.hp2 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01975.hp1 HG02015.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03710.hp1 NA18522.hp2 NA18906.hp2 NA18972.hp2 NA19043.hp2 NA19056.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0027 a0002c0003 a0002c0006 a0002c0008 a0002c0010 a0002c0029 a0002c0032 a0003c0004 a0003c0021 a0004c0012 a0010c0026	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0005t0003 a0001c0027t0003 a0002c0003t0002 a0002c0003t0003 a0002c0006t0003 a0002c0008t0002 a0002c0010t0003 a0002c0029t0003 a0002c0032t0002 a0003c0004t0002 a0003c0021t0002 a0004c0012t0003 a0010c0026t0003	a0001c0001t0001g0182 a0001c0002t0001g0114 a0001c0002t0001g0173 others(44): Show a0001c0001t0001g0182 a0001c0002t0001g0114 a0001c0002t0001g0173 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0192 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0308 a0001c0002t0002g0311 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0320 a0001c0002t0002g0325 a0001c0002t0002g0326 a0001c0002t0002g0331 a0001c0002t0002g0335 a0001c0002t0002g0356 a0001c0005t0003g0018 a0001c0005t0003g0198 a0001c0005t0003g0199 a0001c0005t0003g0257 a0001c0005t0003g0265 a0001c0027t0003g0241 a0002c0003t0002g0189 a0002c0003t0002g0268 a0002c0003t0003g0210 a0002c0003t0003g0213 a0002c0003t0003g0215 a0002c0003t0003g0220 a0002c0003t0003g0224 a0002c0003t0003g0227 a0002c0006t0003g0242 a0002c0006t0003g0243 a0002c0008t0002g0332 a0002c0010t0003g0200 a0002c0029t0003g0204 a0002c0032t0002g0347 a0003c0004t0002g0283 a0003c0004t0002g0307 a0003c0004t0002g0310 a0003c0021t0002g0284 a0003c0021t0002g0348 a0004c0012t0003g0016 a0004c0012t0003g0214 a0004c0012t0003g0223 a0010c0026t0003g0246	49	393	0.1247	-204	c.987 others(15): Show c.987+742_987+945del		DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
DPH7_chr9_137549444_137583925	137565752	TCTGTCTG others(197): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG01891.hp1 others(1): Show HG00639.hp1 HG01884.hp2 HG01891.hp1 HG03669.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0006c0008t0001 a0001c0001t0001 a0001c0001t0003 a0006c0008t0001	a0001c0001t0001g0127 a0001c0001t0003g0015 a0006c0008t0001g0054 a0001c0001t0001g0127 a0001c0001t0003g0015 a0006c0008t0001g0054	4	312	0.0128	-204	c.641 others(15): Show c.641-802_641-599del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567050	TCTGTCTG others(197): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	322	0.0031	-204	c.641 others(17): Show c.641-2100_641-1897del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567220	GGGGTGAC others(197): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	236	0.0042	-204	c.641 others(17): Show c.641-2270_641-2067del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
ENOSF1_chr18_665318_717630	666897	TGATGGAG others(197): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGAT GGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGTGATGG TGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAG ATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG03704.hp1 HG01070.hp2 HG01081.hp2 HG03704.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0067 a0002c0005t0001g0068 a0002c0005t0001g0160 a0002c0005t0001g0067 a0002c0005t0001g0068 a0002c0005t0001g0160	3	388	0.0077	-204	c.72 others(11): Show c.7204_*7407del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3420		chr18	TogoVar
F7_chr13_113100791_113125685	113108861	TGGGTGTT others(197): Show TGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGC GAGGGTGTCCCGGGAGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAG CGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGA GTGTGGGTGTCCCGGGGGAGTGGATGTCCCGGGAGTGTGGGTGTTCCGGA GGCGA	T T	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	398	0.0025	-204	c.65- others(15): Show c.65-1822_65-1619del		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
FLT4_chr5_180596506_180654600	180635450	ATGGATGG others(197): Show ATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGTGGGATGGAA GTGTGGGTGGATGGGAGGGTGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGAT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0118 a0001c0001t0005g0118	1	354	0.0028	-204	c.59- others(15): Show c.59-3876_59-3673del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29						chr5	TogoVar
FOXN3_chr14_89151177_89422233	89362409	CACCTCCT others(197): Show CACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGCTCCA CCACCTCCTCCTCCACCACCACCACCACCACCACCACCATCTCCACCACC ACCACCACCATCTCTACGACCACCACCACCACCATCTCCACCACCACCTC CACCACCACCACCACCACCATCTCTACGACCACCACCACCACCACCATCT CTACG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	228	0.0044	-204	c.544 others(19): Show c.544-11805_544-11602del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
HELZ2_chr20_63553086_63579239	63571619	GCTCCAAG others(197): Show GCTCCAAGCTCCTGGGAGTCTCTGGCTCTGCCTACAGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCC CCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTACGGTGGGCTCCTG CCCCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0048 a0048	a0048c0085 a0048c0085	a0048c0085t0013 a0048c0085t0013	a0048c0085t0013g0070 a0048c0085t0013g0070	1	378	0.0026	-204	c.278 others(15): Show c.278+285_278+488del		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19						chr20	TogoVar
HTT_chr4_3069681_3248957	3227356	TCCCTGTC others(197): Show TCCCTGTCTGGGGCTGAAGGACAGTGCCACCCCTGCCCTGTCTGGGGCTG AAGGACAGTGCCACCCCTGCCCTGTCTGGGGCTGAAGGACAGTGCCACCC CTGCCCTGTCTGGGGCTGAAGGACAGTGCCACCCCTGCCCTGTCTGGGGC TGAAGGACAGTGCCACCCCTGCCCTGTCTGGGGCTGAAGGACAGTGCCAC CCCTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0072 a0005c0072	a0005c0072t0003 a0005c0072t0003	a0005c0072t0003g0188 a0005c0072t0003g0188	1	48	0.0208	-204	c.784 others(17): Show c.7849-975_7849-772del		HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	57/66					INFO_REALIGN_3_PRIME	chr4	TogoVar
INCENP_chr11_62119011_62158169	62133231	GGAAATTA others(197): Show GGAAATTAACAAATTTAATTTCCCAAAAATTAAATTCGGGATGGGAAGGA AACACCTGCACCAGAGGAATGGAAAAATGAGATAGGAAAAAAAGCCAGCA GTCAGCGTGGGTGGAGGGGGCTTCTGGAAGCCAGAGTGTGGCCCCGGGGC GTGGAACTGCTGTGTGTCAGCAGGAATCCCCTGCCTCCTGGCCTGGTGCG CACGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02135.hp2 NA18944.hp1 others(1): Show HG00423.hp1 HG02135.hp2 NA18944.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	4	356	0.0112	-204	c.106 others(19): Show c.1063+2643_1063+2846del		INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
IQCA1_chr2_236319151_236512476	236459493	GTATATAT others(197): Show GTATATATGTATACGTATACGTATACATGTATACATGTATACGTATACGT ATACGTATACATGTATACGTATATATGTGTATACATACGTATATACGTAT ACGTATACATATATACGTATATAAGTATATACATACGTATATACGTATAT ACGTATATATGTATATACATACGTATATACGTATATATGTATATACATAT ATACA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	206	0.0049	-204	c.926 others(17): Show c.926+5808_926+6011del		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18						chr2	TogoVar
IQCE_chr7_2553979_2619728	2577569	GTGTGTGC others(197): Show GTGTGTGCGGCGTGCCCGCATTGGCGTGTGCGTGGCTGTGCGCGCGGGGA CGTGTGTGCGGCGTGCACGCATTGGCGTGTGCTTGGCTGTGCGCGCGGGG ACGTGTGTGCGGCGTGCACGCATTGGCGTGTGCGTGGCTGTGCGCGCGGG GACGTGTGTGCGGCGTATACGCATTGGCGTGTGCGTGGCTGTGCGCGCGG GGACC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02818.hp1 HG03195.hp1 HG02451.hp1 HG02818.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0022 a0002c0039 a0001c0022 a0002c0039	a0001c0022t0090 a0001c0022t0091 a0002c0039t0092 a0001c0022t0090 a0001c0022t0091 a0002c0039t0092	a0001c0022t0090g0081 a0001c0022t0091g0080 a0002c0039t0092g0012 a0001c0022t0090g0081 a0001c0022t0091g0080 a0002c0039t0092g0012	3	414	0.0072	-204	c.466 others(15): Show c.466-660_466-457del		IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr7	TogoVar
IQGAP2_chr5_76398285_76713132	76699605	TTCTCTCT others(197): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCACTCTCGTGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTC AGGCTTCTCTCTGTTTCTCTCTCTCTCTCTCTCACTCTCACTCTCGTGCT CTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTTTCTGTTTCT CTCTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp2 NA18522.hp2 others(2): Show HG02486.hp2 HG02622.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0040 a0003c0039 a0009c0014 a0001c0040 a0003c0039 a0009c0014	a0001c0040t0009 a0003c0039t0009 a0009c0014t0009 a0001c0040t0009 a0003c0039t0009 a0009c0014t0009	a0001c0040t0009g0173 a0003c0039t0009g0120 a0009c0014t0009g0126 others(2): Show a0001c0040t0009g0173 a0003c0039t0009g0120 a0009c0014t0009g0126 a0009c0014t0009g0129 a0009c0014t0009g0214	5	110	0.0455	-204	c.436 others(19): Show c.4368-1434_4368-1231del		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNQ2_chr20_63395208_63477655	63415284	TGCCACGG others(197): Show TGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGG GACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCA CCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGA GGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAG GGGAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG03130.hp1 others(6): Show HG01243.hp1 HG02280.hp1 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0024 a0001c0002 a0002c0001 a0002c0024	a0001c0002t0079 a0002c0001t0019 a0002c0001t0048 others(3): Show a0001c0002t0079 a0002c0001t0019 a0002c0001t0048 a0002c0001t0052 a0002c0001t0056 a0002c0024t0008	a0001c0002t0079g0095 a0002c0001t0019g0092 a0002c0001t0019g0094 others(6): Show a0001c0002t0079g0095 a0002c0001t0019g0092 a0002c0001t0019g0094 a0002c0001t0019g0219 a0002c0001t0019g0237 a0002c0001t0048g0195 a0002c0001t0052g0044 a0002c0001t0056g0080 a0002c0024t0008g0093	9	328	0.0274	-204	c.130 others(17): Show c.1302-362_1302-159del		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	12/16						chr20	TogoVar
KRTAP5-1_chr11_1579342_1590283	1584752	GGCCCCCT others(197): Show GGCCCCCTTGGAGCACCCACAGGAGCCACAGCCCCCTTTGCCACAGCTGG AGCAGGAACAAGCTGGCACACAGCAGCACATGGGCTTGCAGCAGCAGACA GGCACACAGCAGCTGGAGCCACATCCCCCACAGCCGGAACCACAGCCACC CTTGGATCCCCCACAAGAGCCACAGCCCCCCTTGGAGCCCCCACAGGAGC CACAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02572.hp1 HG02572.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0000 a0007c0008t0001g0000	1	428	0.0023	-204	c.294 others(7): Show c.294_497del	p.Cys others(12): Show p.Cys99_Ala166del	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding	1/1	531/942	294/837	98/278			chr11	TogoVar
LATS2_chr13_20968036_21066586	21007532	ATATATAT others(197): Show ATATATATATATAGTATATATATATATATATATATATATATATATATATA TATATAGTATATATATATATAGTGTGTATATATATATATAGTGTATATAT ATATATATATATAGTGTGTGTATATATATATAGTGTGTATATATATATAT AGTATATATATATATATAGTATGTATATATATATATATATAGTATATATA TATAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0035 a0002c0034t0035	a0002c0034t0035g0029 a0002c0034t0035g0029	1	314	0.0032	-204	c.343 others(19): Show c.343-16332_343-16129del		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7						chr13	TogoVar
LMF1_chr16_848634_975984	886545	ATTCCCCA others(197): Show ATTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTC CCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCG GCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCC TCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCC CGGCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02258.hp2 others(5): Show HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG03139.hp1 HG03225.hp2 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0006 a0001c0018 a0001c0020 others(2): Show a0001c0006 a0001c0018 a0001c0020 a0001c0023 a0006c0049	a0001c0006t0001 a0001c0018t0001 a0001c0020t0001 others(2): Show a0001c0006t0001 a0001c0018t0001 a0001c0020t0001 a0001c0023t0001 a0006c0049t0001	a0001c0006t0001g0081 a0001c0006t0001g0092 a0001c0006t0001g0283 others(5): Show a0001c0006t0001g0081 a0001c0006t0001g0092 a0001c0006t0001g0283 a0001c0018t0001g0242 a0001c0020t0001g0097 a0001c0020t0001g0100 a0001c0023t0001g0245 a0006c0049t0001g0243	8	101	0.0792	-204	c.729 others(17): Show c.729+6258_729+6461del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10						chr16	TogoVar
LRFN5_chr14_41601876_41909549	41808349	TGAAGGAA others(197): Show TGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAGGAAGGAAGGAAAGGAA GAAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGAATCGAGGGAGGGAGGG AGGACCTATAAGATTAGTTCTGGAAAAAGTATACCCAATTGTGGCCAGAC AAGGAAGGAAGGGAGGAAGGAAGGGAGGGATGGAGGAAGGAAGGGAGGGA TGAAG	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	231	0.0043	-204	c.-21 others(19): Show c.-21+41346_-21+41549del		LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(197): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	273	0.0037	-204	c.29 others(11): Show c.2960_*3163del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2955		chr16	TogoVar
MEGF11_chr15_65890299_66258750	66039746	TCTGAGCC others(197): Show TCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGG CGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACG GTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTGAGCCGGGTCA GGCGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGA CGGTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00621.hp2 others(49): Show HG00099.hp2 HG00597.hp1 HG00621.hp2 HG00673.hp2 HG01256.hp2 HG01258.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02572.hp1 HG02572.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03704.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18952.hp2 NA18993.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19056.hp1 NA19066.hp2 NA19068.hp2 NA19084.hp1 NA19085.hp1 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0007 a0008	a0001c0001 a0001c0022 a0002c0002 others(4): Show a0001c0001 a0001c0022 a0002c0002 a0004c0004 a0006c0006 a0007c0007 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0022t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0011 a0002c0002t0015 a0004c0004t0003 a0006c0006t0003 a0007c0007t0002 a0007c0007t0007 a0008c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0022 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0130 a0001c0001t0001g0145 a0001c0001t0002g0157 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0005g0009 a0001c0001t0005g0023 a0001c0001t0005g0133 a0001c0001t0006g0076 a0001c0001t0009g0008 a0001c0001t0017g0171 a0001c0022t0010g0094 a0002c0002t0001g0011 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0055 a0002c0002t0001g0062 a0002c0002t0001g0073 a0002c0002t0001g0079 a0002c0002t0001g0082 a0002c0002t0001g0090 a0002c0002t0001g0111 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0139 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0156 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0166 a0002c0002t0005g0132 a0002c0002t0011g0061 a0002c0002t0015g0168 a0004c0004t0003g0109 a0006c0006t0003g0007 a0007c0007t0002g0169 a0007c0007t0007g0075 a0008c0009t0001g0003 a0008c0009t0001g0004	52	64	0.8125	-204	c.394 others(19): Show c.394+54452_394+54655del		MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25						chr15	TogoVar
MEGF6_chr1_3482951_3616508	3583558	GCAGCCAC others(197): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01175.hp1 HG01256.hp2 others(17): Show HG00673.hp1 HG01175.hp1 HG01256.hp2 HG01891.hp1 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 NA18998.hp2 NA19005.hp1 NA19067.hp2 NA19090.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0007 a0008 a0009 a0012 a0019 a0023 a0056 a0072 a0093	a0001c0001 a0001c0007 a0002c0002 others(11): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0007c0008 a0008c0021 a0008c0038 a0009c0009 a0012c0016 a0019c0017 a0023c0022 a0056c0093 a0072c0073 a0093c0075	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0007t0014 a0002c0002t0019 a0003c0003t0001 a0007c0008t0001 a0008c0021t0001 a0008c0038t0001 a0009c0009t0005 a0012c0016t0003 a0019c0017t0015 a0019c0017t0038 a0023c0022t0012 a0056c0093t0013 a0072c0073t0031 a0093c0075t0001	a0001c0001t0001g0257 a0001c0001t0006g0034 a0001c0001t0009g0157 others(17): Show a0001c0001t0001g0257 a0001c0001t0006g0034 a0001c0001t0009g0157 a0001c0007t0014g0176 a0002c0002t0019g0287 a0003c0003t0001g0177 a0007c0008t0001g0139 a0007c0008t0001g0140 a0008c0021t0001g0017 a0008c0038t0001g0013 a0009c0009t0005g0158 a0009c0009t0005g0242 a0012c0016t0003g0168 a0019c0017t0015g0234 a0019c0017t0015g0237 a0019c0017t0038g0236 a0023c0022t0012g0233 a0056c0093t0013g0235 a0072c0073t0031g0290 a0093c0075t0001g0114	20	193	0.1036	-204	c.377 others(17): Show c.377-3833_377-3630del		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MMP12_chr11_102857736_102879982	102860373	CACAAGGT others(197): Show CACAAGGTAGACAGTCCTGTTCTCTTCCTTGTTGACTAATTTGTGCTAAA GTATAATTTTTAAAGGCTAAAAATATGATTTTATGCAAATATGAAATGAA CTTGTTAAAGATATTCTTTAACTCACTAGCTAATGAGGGAATCAGTTCAA AGAAGGGCCTGAAGAACAGACATATATACAGTAAGGAATGTGAAAGAAAT TTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03225.hp1 HG03471.hp2 HG02258.hp1 HG03225.hp1 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	3	446	0.0067	-204	c.25 others(11): Show c.2523_*2726del		MMP12	ENSG00000262406.3	transcript	ENST00000571244.3	protein_coding					2362		chr11	TogoVar
MYZAP_chr15_57586904_57690364	57687366	TTATATAT others(197): Show TTATATATAATATATGTGTACAATATACACATATATATTATATATAATAT GTGTGTACAATATACACATATATATAATATGTGTGTACAATATACACATA TATATAATATGTGTGTACAATATACACATATATATGTGTGTACAATATAC ACATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATAC ACATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0325 a0001c0001t0007g0327 a0001c0001t0007g0325 a0001c0001t0007g0327	2	347	0.0058	-204	c.28 others(11): Show c.2869_*3072del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2003		chr15	TogoVar
NEDD4L_chr18_58039226_58406539	58171234	CCCGCCTC others(197): Show CCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCA TCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCAG CCCAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGG ACAGGACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACAC TGCTG	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	116	0.0086	-204	c.122 others(17): Show c.122+5376_122+5579del		NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30					INFO_REALIGN_3_PRIME	chr18	TogoVar
NID1_chr1_235970830_236070090	236038658	ACATATAT others(197): Show ACATATATAATATATATTACCTATGTTATATAGGTCATATATAATATATA TTACCTATGTTATATAGGTCATATATAATATATATTACCTATGTTATATA GGTCATATATAATATATATTACCTATGCTATATAGGTCATATATAATATA TATTACCTATGTTATATAGGTCATATATAATAAATATTACCTATGTTATA TAGGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG03486.hp1 HG01891.hp1 HG02145.hp2 HG03486.hp1	a0002 a0003 a0032 a0002 a0003 a0032	a0002c0002 a0003c0007 a0032c0057 a0002c0002 a0003c0007 a0032c0057	a0002c0002t0005 a0003c0007t0001 a0032c0057t0017 a0002c0002t0005 a0003c0007t0001 a0032c0057t0017	a0002c0002t0005g0303 a0003c0007t0001g0094 a0032c0057t0017g0097 a0002c0002t0005g0303 a0003c0007t0001g0094 a0032c0057t0017g0097	3	325	0.0092	-204	c.113 others(17): Show c.1136-609_1136-406del		NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	4/19						chr1	TogoVar
NKD2_chr5_1003802_1043943	1022996	TGTGGGCG others(197): Show TGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCG TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTG CTCTTCCCACCCGCTGTGGGCATCCCAGCCCATTGTCCCTGCTCTTCCCA CCCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG03927.hp1 others(2): Show HG00741.hp2 HG01106.hp1 HG03927.hp1 HG04199.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0159 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0014g0144	5	304	0.0164	-204	c.142 others(17): Show c.142-9155_142-8952del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9						chr5	TogoVar
NKD2_chr5_1003802_1043943	1023734	TGTGGGCG others(197): Show TGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGT CCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCA TTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTG CTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCA CTCTC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0017 a0006c0013t0017	a0006c0013t0017g0095 a0006c0013t0017g0095	1	281	0.0036	-204	c.142 others(17): Show c.142-8417_142-8214del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9						chr5	TogoVar
NKD2_chr5_1003802_1043943	1024800	TGTGGGCG others(197): Show TGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCT TTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCATTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCA CCCGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(66): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01517.hp2 HG01934.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02486.hp1 HG02615.hp1 HG02683.hp1 HG02735.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03834.hp2 HG03942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18960.hp2 NA18968.hp1 NA18973.hp2 NA18984.hp2 NA18992.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19011.hp1 NA19057.hp1 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19079.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0010 others(1): Show a0001c0001 a0001c0008 a0001c0010 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0008t0023 a0001c0008t0024 a0001c0010t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0002g0204 a0001c0001t0003g0106 a0001c0001t0003g0122 a0001c0001t0005g0078 a0001c0001t0006g0271 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0006g0277 a0001c0001t0009g0010 a0001c0001t0009g0081 a0001c0001t0012g0118 a0001c0001t0020g0200 a0001c0001t0021g0205 a0001c0001t0022g0197 a0001c0008t0023g0001 a0001c0008t0024g0001 a0001c0010t0001g0001 a0002c0003t0001g0032 a0002c0003t0001g0039 a0002c0003t0001g0203 a0002c0003t0001g0220	69	290	0.2379	-204	c.142 others(17): Show c.142-7351_142-7148del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9						chr5	TogoVar
NKD2_chr5_1003802_1043943	1025087	TGTGGGCG others(197): Show TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCG TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTG CTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCA CCCGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	216	0.0046	-204	c.142 others(17): Show c.142-7064_142-6861del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9						chr5	TogoVar
OR2T6_chr1_248370746_248396811	248383122	GAAAGCAC others(197): Show GAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGGTGTGTTTCC TAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGTTCATC CTATCCTGAAGTGTATCCTAGTGTTATCATCATGGAGAAAGCACTGCACT AGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAATGTTATTGTCA TGGGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG03225.hp2 HG02145.hp2 HG02572.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	3	402	0.0075	-204	c.-15 others(19): Show c.-158-1549_-158-1346del		OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar

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