Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MLPH_chr2_237482251_237560322	237543567	GGTAGTGA others(1065): Show GGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGG GACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGG GCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGT GGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGT GAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGT GGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAG TGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGAC AGTGGTGAGTGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCAC GGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGG GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGG GGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTG GGGGACCGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGT CGGGGGACAGTGGTGAATGGGCACGGTAGTGAGTGGGGGGACAGTAGTGA GTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGG GGACATTGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTG GTGGTCAGTGGTGATTGGGCACT	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	286	0.0035	-1072	c.153 others(18): Show c.1539+958_1540-1918del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
RPH3AL_chr17_207389_357807	255216	TGTGACTA others(1065): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAG CCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTC CTGTTCCATCCCTAGGAATGTGACTACCCAACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAG GAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTG TCCTGTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGG GAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTA CGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTA GGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCT GTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGG GGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCT ACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCT AGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTC TGTCCTTTTCCATCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	133	0.0075	-1072	c.439 others(17): Show c.439-9003_439-7932del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
DAPK3_chr19_3953453_3976099	3973709	GGGCCAGA others(1064): Show GGGCCAGAGCTGCCCCCGCCTTTGCCGAGAACCCCACAGCCCTACTTCAC AGTCCCCACCTGCCTTCCTGAGGACAGAGTAAAAGGCGGAAAATGATCAT GTTAACCTTATCAGCACTGACAAGATTAGGCCTCCTCACATCTTAGGCAC TATTTAGAAAAACAAATAGTTTTCTAAGCTATTGGCGCTCACACCTGAAA TCCCAGCACTTTGGGAGGCTGAGGCAGAAGGATCGCTTGAGCCCGGGAAG GAGACCAGCCTGAGCAACATAGTGAGACCCCATTACTACAAAAAAAGTAA AAATTAGGTCAGCACAGTGGCTCACGCCTATAATTCCCAGCACTTTGGGA GGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCCTGGCTA ACACGGTGAAACCCTGTCTCTACTAATAAATACAAAAAATTAGCCGGGCA TGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGAGCCAC TGCACTCCAGCCTGGGTGACAGAGCAAAGACTGTCTCAAAAAAAAAAAAA AATTCAGCTTCCACATACCATCTTAACGTTTGCACTACTAAAAAAGAATA GGACCCGGTATGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTG AGGCGGGCTGATCTCTTACGGTCGAGCTTGAGACCAGCCTGGCCAACATG GTGAAACCCCATCTCACCTAAATATACAAAAATTACACAGACCTGGTGAT AGGCGCCTGTAATTCCAGCTACTCGGGAGGCTGAAGCACAAGAATTGCTT GAGCACTTGAATCCGGAGGCAGAGGCTATAGTGAGCCAAGATCACAACAC TGCACTCCATCCTGGGCGATAGAGTGAGATTCTCGAAACACAGTAATCCG TTACCCTGACTGCTGGAAACAGCGTCAGTTACAGCCCCAATTCAAATGCG ACAGCCAAACCAAACCTCAGGCATACCTACATGTGGGCAAAACCTCAGCT GAGGCTTGGCCTTGACAATGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	364	0.0028	-1071	c.-39 others(11): Show c.-3954_-2884del	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		2611		chr19	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(1064): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02055.hp1 others(3): Show HG01069.hp1 HG01071.hp2 HG02055.hp1 HG02723.hp2 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0257 a0001c0001t0001g0258 others(3): Show a0001c0001t0001g0192 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0324 a0001c0001t0001g0325	6	350	0.0171	-1071	c.20 others(11): Show c.2093_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
LUC7L_chr16_183990_234449	186196	GACACGGG others(1064): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA TACCAACACGGGAGGAACAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02622.hp2 HG03195.hp1 others(1): Show HG02258.hp2 HG02622.hp2 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0316 a0001c0001t0001g0317 others(1): Show a0001c0001t0001g0180 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318	4	350	0.0114	-1071	c.19 others(11): Show c.1931_*3001del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2793		chr16	TogoVar
ABL1_chr9_130830254_130892675	130876782	GCTGGAGT others(1063): Show GCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCGCCTTCCGG GTTCACGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTATAGGC GCCCGCCGCCACACTCGGCCAATTTTTTTTCTATTTTTGTAGAGACGGGG TTTCACTGCGTTAGCCAGGATGGTCTCGATCTCCGGACTTCGTGATCCGC CCACCTTGGCCTCCCAAAGTGCACAAGTTAGTTTCTTAATACCCTTCAGT GGTGGCCAATTAGGTTTTTGCTGTCATTGGTGGTATTATGAACTCTCAGA TTTATATATATCTGATGTGTTTCAGTCCACTGCGGTTATTTTCCCTGTTG ATATTCAGATTGTCTCGTCTTTGGCCAGTGGGAACTTCACATTAGCTCCT AGTCATTTTGACATTAACTTTGTAGTTTTCCATGACGTCCGCGCCCTCAA ATGACAAGCTATTGCAGGTTCATTCTGTGCCCCAGGCCTGAATCACCCAT TTCTCTAAGGAATCTTATCCTTTAATGGGAAATGGAATTTTAAGGCAATA ATCTCAGATTTCAAAACTTTCAAAGATTTCATAAGATTTTTATGAAATGT TTAGAGTTAGAAGGGGCTTTGGAGATAGTCTTGTGCACCCAGAAAGCAGT GGTGGCCGGTTAGGCACAGAGCTGGTTGGTCACAGAGCTAAGAGTTAACA TGGCCAGCTGACTTCCGGCGCCAGGTTCCTTCTACCACATATCCCAGCAA GATGGTCACATTACCTAAAAGACCCCACAGGGTCTGAAACTCATCATCTG CCCTCCTCTAGCATGTTTGTGGGGTAAGTTTACTGAGTCTTGTTCTGTCC TGGTCTCCTTTTTTTTTTTTTATTTTTGAGACGGGGTCTTGCTCTGTCGC CCAGGCTGGCGTGCAGTGGAGCAATATCAGCTCACTACAACCTCCGTCTC CTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAAAGTAGCCAGGACTAC TGGCGTACACCACCACACCTGGCTAAATTTTTTTTTTTTTTTTGAGATGG AGTCTCGCTCTGTCACCCAGC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01255.hp1 others(23): Show HG01074.hp2 HG01099.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG02258.hp1 HG02451.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03516.hp1 HG06807.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0023 a0001c0003 a0001c0007 a0001c0023	a0001c0003t0003 a0001c0003t0004 a0001c0003t0016 others(4): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0016 a0001c0003t0020 a0001c0007t0004 a0001c0007t0023 a0001c0023t0028	a0001c0003t0003g0138 a0001c0003t0003g0147 a0001c0003t0003g0148 others(22): Show a0001c0003t0003g0138 a0001c0003t0003g0147 a0001c0003t0003g0148 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0163 a0001c0003t0003g0175 a0001c0003t0003g0184 a0001c0003t0003g0192 a0001c0003t0003g0206 a0001c0003t0003g0210 a0001c0003t0003g0219 a0001c0003t0003g0248 a0001c0003t0003g0251 a0001c0003t0004g0247 a0001c0003t0004g0249 a0001c0003t0004g0250 a0001c0003t0004g0255 a0001c0003t0016g0194 a0001c0003t0020g0221 a0001c0007t0004g0002 a0001c0007t0004g0202 a0001c0007t0004g0246 a0001c0007t0023g0002 a0001c0023t0028g0059	26	278	0.0935	-1070	c.127 others(18): Show c.1271-1617_1271-548del	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASMT_chrX_1610059_1648081	1638643	ATGATGGG others(1063): Show ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGG CACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCAC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG TCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAG GACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGA GGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCT GTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATG TGGACACAGCCTCTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	223	0.0045	-1070	c.910 others(17): Show c.910+2115_911-3059del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639056	TGATGGGG others(1063): Show TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGT TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCAC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAG CTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACA GCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC ATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC CTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATC CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGT GGGCACAGCCTCTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	223	0.0045	-1070	c.910 others(17): Show c.910+2500_911-2674del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
DAPK3_chr19_3953453_3976099	3973361	AGCTTGAG others(1063): Show AGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCACCTAAATA TACAAAAATTACACAGACCTGGTGATAGGCGCCTGTAATTCCAGCTACTC GGGAGGCTGAAGCACAAGAATTGCTTGAGCACTTGAATCCGGAGGCAGAG GCTATAGTGAGCCAAGATCACAACACTGCACTCCATCCTGGGCGATAGAG TGAGATTCTCGAAACACAGTAATCCGTTACCCTGACTGCTGGAAACAGCG TCAGTTACAGCCCCAATTCAAATGCGACAGCCAAACCAAACCTCAGGCAT ACCTACATGTGGGCAAAACCTCAGCTGAGGCTTGGCCTTGACAATGCAGG GCCAGAGCTGCCCCCGCCTTTGCCGAGAACCCCACAGCCCTACTTCACAG TCCCCACCTGCCTTCCTGAGGACAGAGTAAAAGGCGGAAAATGATCATGT TAACCTTATCAGCACTGACAAGATTAGGCCTCCTCACATCTTAGGCACTA TTTAGAAAAACAAATAGTTTTCTAAGCTATTGGCGCTCACACCTGAAATC CCAGCACTTTGGGAGGCTGAGGCAGAAGGATCGCTTGAGCCCGGGAAGGA GACCAGCCTGAGCAACATAGTGAGACCCCATTACTACAAAAAAAGTAAAA ATTAGGTCAGCACAGTGGCTCACGCCTATAATTCCCAGCACTTTGGGAGG CCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCCTGGCTAAC ACGGTGAAACCCTGTCTCTACTAATAAATACAAAAAATTAGCCGGGCATG GTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGAGCCACTG CACTCCAGCCTGGGTGACAGAGCAAAGACTGTCTCAAAAAAAAAAAAAAA TTCAGCTTCCACATACCATCTTAACGTTTGCACTACTAAAAAAGAATAGG ACCCGGTATGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAG GCGGGCTGATCTCTTACGGTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0002t0011 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(115): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0035 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0134 a0001c0001t0004g0014 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0005g0017 a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0006g0023 a0001c0001t0006g0060 a0001c0001t0006g0064 a0001c0001t0007g0037 a0001c0001t0008g0084 a0001c0001t0010g0085 a0001c0002t0001g0028 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0011g0135 a0003c0005t0001g0083	309	364	0.8489	-1070	c.-36 others(11): Show c.-3605_-2536del	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		2263		chr19	TogoVar
DGKB_chr7_14140049_14907751	14211317	TATTTACT others(1063): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATTTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTG ATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTG ATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTA CTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTA CTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGA TATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATT TTACTCTCGTGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02809.hp1 NA18968.hp2 others(1): Show HG00741.hp1 HG02809.hp1 NA18968.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0002t0031 a0001c0001t0001 a0001c0001t0020 a0001c0002t0031	a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0020g0097 others(1): Show a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0020g0097 a0001c0002t0031g0008	4	148	0.0270	-1070	c.212 others(21): Show c.2123-34236_2123-33167del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
EEF2_chr19_3971056_3990463	3973361	AGCTTGAG others(1063): Show AGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCACCTAAATA TACAAAAATTACACAGACCTGGTGATAGGCGCCTGTAATTCCAGCTACTC GGGAGGCTGAAGCACAAGAATTGCTTGAGCACTTGAATCCGGAGGCAGAG GCTATAGTGAGCCAAGATCACAACACTGCACTCCATCCTGGGCGATAGAG TGAGATTCTCGAAACACAGTAATCCGTTACCCTGACTGCTGGAAACAGCG TCAGTTACAGCCCCAATTCAAATGCGACAGCCAAACCAAACCTCAGGCAT ACCTACATGTGGGCAAAACCTCAGCTGAGGCTTGGCCTTGACAATGCAGG GCCAGAGCTGCCCCCGCCTTTGCCGAGAACCCCACAGCCCTACTTCACAG TCCCCACCTGCCTTCCTGAGGACAGAGTAAAAGGCGGAAAATGATCATGT TAACCTTATCAGCACTGACAAGATTAGGCCTCCTCACATCTTAGGCACTA TTTAGAAAAACAAATAGTTTTCTAAGCTATTGGCGCTCACACCTGAAATC CCAGCACTTTGGGAGGCTGAGGCAGAAGGATCGCTTGAGCCCGGGAAGGA GACCAGCCTGAGCAACATAGTGAGACCCCATTACTACAAAAAAAGTAAAA ATTAGGTCAGCACAGTGGCTCACGCCTATAATTCCCAGCACTTTGGGAGG CCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCCTGGCTAAC ACGGTGAAACCCTGTCTCTACTAATAAATACAAAAAATTAGCCGGGCATG GTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGAGCCACTG CACTCCAGCCTGGGTGACAGAGCAAAGACTGTCTCAAAAAAAAAAAAAAA TTCAGCTTCCACATACCATCTTAACGTTTGCACTACTAAAAAAGAATAGG ACCCGGTATGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAG GCGGGCTGATCTCTTACGGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(347): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0002c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(23): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0006 a0001c0004t0002 a0001c0005t0003 a0001c0005t0009 a0001c0006t0002 a0001c0007t0005 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0008 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0007 a0002c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(133): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0129 a0001c0001t0004g0139 a0001c0001t0010g0090 a0001c0001t0011g0102 a0001c0001t0012g0137 a0001c0001t0013g0153 a0001c0001t0014g0154 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0032 a0001c0002t0002g0039 a0001c0002t0002g0073 a0001c0002t0002g0114 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0125 a0001c0002t0002g0152 a0001c0002t0003g0013 a0001c0002t0003g0020 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0049 a0001c0002t0003g0058 a0001c0002t0007g0048 a0001c0002t0007g0050 a0001c0002t0007g0051 a0001c0003t0006g0017 a0001c0004t0002g0006 a0001c0004t0002g0047 a0001c0005t0003g0029 a0001c0005t0003g0030 a0001c0005t0003g0052 a0001c0005t0003g0055 a0001c0005t0003g0056 a0001c0005t0003g0057 a0001c0005t0003g0060 a0001c0005t0003g0061 a0001c0005t0009g0054 a0001c0006t0002g0043 a0001c0006t0002g0044 a0001c0006t0002g0119 a0001c0006t0002g0141 a0001c0006t0002g0142 a0001c0007t0005g0038 a0001c0007t0005g0081 a0001c0007t0005g0082 a0001c0007t0005g0083 a0001c0007t0005g0084 a0001c0007t0005g0085 a0001c0009t0001g0101 a0001c0009t0001g0103 a0001c0009t0001g0104 a0001c0010t0001g0034 a0001c0011t0001g0042 a0001c0012t0008g0063 a0001c0016t0001g0091 a0001c0017t0001g0086 a0001c0018t0001g0097 a0001c0019t0001g0135 a0001c0020t0007g0059 a0002c0014t0001g0076	350	403	0.8685	-1070	c.21 others(11): Show c.2123_*3192del	EEF2	ENSG00000167658.16	transcript	ENST00000309311.7	protein_coding		2694		chr19	TogoVar
INPP5A_chr10_132532787_132788480	132718350	AGCTGTCT others(1063): Show AGCTGTCTTCAGGGTTCTGTGGTGCCTGGGTTCTGTCTGGGCGCCTTAGA CGACTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCTGGGCGCCTTAG ACGGCTGTCTTCAGGGTTCTGTGGTGCCTGGGTTCTCTCTGGGCGCCTTA GATGGCTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCTGGGCACCTT AGACGACTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGTCTAGGCACCT TAGACGACTGTCTTCAGGGTTCTGTGGTGCCTGGTTTCTGTCTGGGCGCC TTAGATGCTGTCTTCAGGGTTCTGTGGTGCCTGGGTTCTGTCTGAGCGCC TTAGACGGTTGTCTGGCGGGTTCTGTGGTACCTGGGTTCTGTCTGGGCAC CTTAGACGACTGTCTTCAGGGTTCTGTGGTACCTCGGTTCTGTCTGGGCA CCTTAGACAGCTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCTGGGC ACCTTAGACGGCTGTCTTCAGGGTTCTGTGGTGCCTGGGTTCTGTCTGGA CGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCTGG GCGCCTTAGACGACTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCTG GGCGCCTTAGACGACTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCT GGGCGCCTTAGACGGCTGTCTCGCGGGTTCTGTGGTACCTGGGTTCTGTC TGGGCACCTTAGACGACTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGT CTGGGTGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTG TCTGGGCACCTTAGACGACTGTCTTGGGGGTTCTGTGGTACCTGGGTTCT GTCTGGGCACCTTAGACAGCTGTCTTCAGGGTTCTGTGGCAACTGGGTTC TGTCTGGGCGCCTTAGGCGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTT CTGTCTGGGCGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCTGGGT TCTGTCTGGGCACCTTAGACG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	204	0.0049	-1070	c.647 others(17): Show c.647+7917_648-7379del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCGF3_chr4_700832_775089	700978	CAGCCAGG others(1063): Show CAGCCAGGAGGCTTCCTTTAGGCCTCGCCCCATTTGCTCCTCTCTCAGGC ACCATGTCCTGTGCTCCCTGATGCCCAGTGTCTGAAGATCGTTGGATGTA TTTTGTCCACTGTTTCAGCTGCTTCGGGAAAGAGGGTAAACTCACGCCCT GCACACACATGCCGATGGCACAGAGATTGAGGCTGTGAGCTTTGCCTCCC CCTGGTGTGAAAATACGTCATCTTCTGGCTTTGCAGTCAGTGCTGTGCAC CTCAGTTTTGATCTGCCTTGTAGTTTTATGAGTCTCATGAGGGAATTCGG GGAGATACAAAATTCTTGCTACTGCCACCATCTTCCCAGAATCCACAGGG ATTTATTTATTTATTTATTTTATTTTGAGACAGGGTCTTCCTCTGTCATC TGGGCTGGAGTACAGCGGTGCAATCTCGGCTCACTGCAACCTCCACCTGC TGGGCTCAAGCAATCCTCCCACCTCAACCTCCCAAGGAGCTGAGGCCACA GATGCACACCACCATGCACCACCATGCCCAGATACTTGTTGTTGTTTATT TTTAGTATAAACAGGGTTTCACCATGTTGCTCAGGCTGGTCTTGAACTCC TGGGTTCAAATGATCCACCAGTCTCGGCCTTTCAAAGTGCTGGGGTTATA GGCATGAGCCACTGCACCCCACCTATTTTTATTTTTTTATTTTTTATTTT TTTTAAGAGACAGGGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGACAGGTGAATCACTTGAGGTCAGGAGTTCGAGACC AACCTGGCCAACATGCCAAGACTCCATCTCTACTAAAAATTCAAAAATTA GCCAGGTGTGGTGGCTTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAG GCACGAGAATTGCTTGAACGTGGGAGGTGGAGGCTGCAGTGAGCCGAGAT CGTGCCACTGCACTCCAGCCTGGGTGACAGTGTGAGACTCCATATCAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAGATGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0336 a0001c0001t0058g0336	1	366	0.0027	-1070	c.-51 others(11): Show c.-5181_-4112del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding		4853		chr4	TogoVar
VAV2_chr9_133756894_133997324	133760073	GCCAGGAG others(1063): Show GCCAGGAGCAGCAGGGAGGGCTGCGTGAGGAGGGTGGGGCCGGCCCTGGG AAGGGGTCCCTCCTGGAGACTCGGCTGACGTACCAGTGAATGGGGGCGAG GGCAGGTCAGATGGGCATGGTCCAGCCTGCACATCTGGGAGAAGGCTTGG CCCAAGGGAGAGGTTCCTGGGGTTGGAAGCTCCTGGAGAAGGGGGCATTT TCACTCTGCCCATCGGGTTCGCCTCCCAGCAGCCTCAGTGGGGCGAAGGC TGGCCAGGGTCCAGTCTGCAGGAAGGGTGGGAGACCCAGGGGCTGGCCTG AGAGGCAGAAAAGTCATCGCTTAGGAACTGGGTGCTGCCCAAACAGAAAC GTGGACTCTGGCATCAGACCGAGCTGTGCAAGGGCCACGTGTGACCTTGG ATGAGTCACTTCACATATCTCAGCCTCAGTTTCCACTTCTAGAAAATGGG CTGTTTCCTGGCCAGAGCTGTAAGGGGATCTCTGTTCTCTCTCATGGCCC TGTGGCAGGAGCTCCAGCAGCCACCGTGGACCACGAGGCAGCCACAAGGA GGGAAGGGCATGCTAAGGACGGGAGATCAGGGAGGAGGAGCCTCTGAGGA TGAGGGATCAGGAAGGAGGAGCTTCTGAGAATGGGGGATCAGGGAGAAGG AGCCCCTGAGAATGGGGGATCAGGAAGGAGCAGCCATTGAGGATGCAGGA TCAGAGAGGGAGGAGCCTCTGAGGACGGAGGATCAGGAAGGAGGAGCCTC TGAGGACGGGAGATCGGGAAAGAGGAGTCTCTGAGGATGGGGGATCAGGA AGCAGGAGCCTCTGAGGACGAGGGATCAGGAAGGAGGAGCCTCTGAGGAC GGCGGATCAGGAAGGAGGAGCCTCTGAGGACGAAGGATCGGGAAGGAGGA GCCTCTGAGGACGGCGGATCGGGAAAGGAGGAGCCTCTGAAGATGGGAGA TTGGGAAGGAGGAGCCTCTGAGGATGGGGAATCAGGAAAGAGGAGCCCCC CTGAGACCAGGGGATCAGGGAGGGGGGAGCCAGGGTTCCTGATGGCTCTG GGACCAGGGCAAGGCAAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0156 a0002c0001t0001g0156	1	200	0.0050	-1070	c.29 others(11): Show c.2919_*3988del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding		1820		chr9	TogoVar
ABR_chr17_998519_1184981	1062191	TGTTGTTA others(1062): Show TGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGCTGTT ATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAA CTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTGAGGG CTATGCATGTTCCTCTAGACGCTGCTGTTATGTGAACTGAGGGCTATGCA TGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCT CTAGCACTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCCAGACAC TGTTGTTATGTGAACTGAGGGATATGCATGTTCCTCTAGACACTGTTGTT ATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTG AGGGTTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTA TGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATACATGT TCCTCTAGACACTGCTATTATGTGAACTGAGGGCTATGCATGTTCCTCTA GACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTG TTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTAT GTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAG GGCTATGCATGTTCCTCTAGATGCTGTTGTTACGTGAACTGAGGGCTATG CATGTTCCTCTAGATGCTGCTGTTATGTGAACTGAGGGCTATGCATGTTC CTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGA CGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGCT GTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGT GAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACGTGAACTGAG GGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATA CATGTTCCTCTAGACACTGC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0216 a0001c0001t0006g0216	1	337	0.0030	-1069	c.118 others(19): Show c.1182+3817_1183-3325del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ADARB2_chr10_1172313_1742525	1237989	TACTCCCC others(1062): Show TACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGC ATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACT CCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTC CCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCT CTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCT GCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGAT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0009 a0001c0001t0012g0009	1	106	0.0094	-1069	c.136 others(19): Show c.1361+3073_1361+4141del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
COL14A1_chr8_120120102_120378573	120353359	GCAATGGC others(1062): Show GCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAA GAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTA CAAAATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATA TCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACCA CCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACCTCTCAAAAGAAG ACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCC ATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGT TAGAATGGTAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGAT GTGGAGAAATAGGAACACTTTTACACTGTTGGTGGAACTGTAAACTAGTT CAACCATTGTGGAATTCGGTGTGGCGATTCCTCAGGAATCTAGAACTGGA GATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACT ATAAATCATGCTGCTATAAAGACACATGCACATGTATGTTTATTGCGGCA TTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGAT AGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAG CCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTG GAAATCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACCG CATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACA GGAAGGGGAATATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGG GAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGG TGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAA TGTGCACATGTACCCTAAAACTTAAAGTATAATTAAAAAAAAAAAAAAAA AGAAAAACACTATCCCCATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0010 a0003c0010t0002g0010	1	218	0.0046	-1069	c.507 others(19): Show c.5077+7802_5077+8870del	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
PRKG2_chr4_81082375_81220222	81132839	CCTCTCTT others(1062): Show CCTCTCTTAGTTTTAAAACATATTAGATGTATTTATTTTATAGTCTGTAT CTGATTACTCCAATAAATGAGGCACTTATGTGTCTGCTTCTGCTCTTTTT GTTTCTGGAAATGAATGCCTATGGTAGCTTTTTTCCTCATACATTCATGT TTTTTAATGCTGGCTTATGTTCCCTAGAACTTTAGATCCAGTAGTTCTTT GTGTCCTGAGTTGAGAGTATATTCTTCCAGAAAGAATATACATTGATTCT TGGGAACTTGGGCATGCCACCAACATAGATTCATTTCATTTAAATTCTTG CTTAGATTTTTCCATCCTTGAAGACTGGGCACCCAACCTCCACTAAGACC AACCTGTGGCCAAGAATTCTTAGGGATAGGTTTCTATTCCTCTACCAAGA GCCAATAATGAGAAAAGCATGTTTCTTTGCATGTAATCTGTCATTACAAA TTTGATATTTTTTTCTTGTTTCCTATTTCTCCAGCAGTTTAATGTATGTG ATTCCTGGTTTCATGCAATGTTCTCTGATTCACCTACCCACACTACATAA GTCCAACGCTTGGTCTCCTGTTCCCAGAGGGCACAGCTACTAAAATCAAA CCTCTAGACCACCTAGGATTGCTAGGTGCATGTAAGATGGCAGCTTCAAT GTGTGATTTCCACCAGATACTGCTGCTCAAGTTTGATTTCAAACCCCAGA GGAATTCTCATGTTGTCTTATAAACTCAGCCATATATTTAATACTGCTTC TCATGTTTCATCCAGTAGACATTTTGTAGTAAGAGGATTTCAAGGTACAT AGTTTAATTCATAGCTAGAAATTGAAATATTTAATATTCACTTTTTAATC ACTGAAGGCTATAGTTCTTACTCTTTGTTTAGCTGATTGGCAAATGAATT AGCAGAATGGATAACAGCAGTTATTTATTGACCTCTATGCCTACACATGT GAAATATGTTTTTTTTAAAAAAAAGCATCTCTATGCCTATACATGTGAAA TATATAGCTATTTTTTTTTAAAAATAGCTTTTTAAGAAAAATCAGTTATG AGAAAAAAGAGATGGAGCTA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03471.hp1 HG02145.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0214 a0001c0001t0003g0245 a0001c0001t0002g0214 a0001c0001t0003g0245	2	250	0.0080	-1069	c.177 others(19): Show c.1776+1247_1776+2315del	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding	14/18			chr4	TogoVar
VAV2_chr9_133756894_133997324	133760071	GGGCCAGG others(1062): Show GGGCCAGGAGCAGCAGGGAGGGCTGCGTGAGGAGGGTGGGGCCGGCCCTG GGAAGGGGTCCCTCCTGGAGACTCGGCTGACGTACCAGTGAATGGGGGCG AGGGCAGGTCAGATGGGCATGGTCCAGCCTGCACATCTGGGAGAAGGCTT GGCCCAAGGGAGAGGTTCCTGGGGTTGGAAGCTCCTGGAGAAGGGGGCAT TTTCACTCTGCCCATCGGGTTCGCCTCCCAGCAGCCTCAGTGGGGCGAAG GCTGGCCAGGGTCCAGTCTGCAGGAAGGGTGGGAGACCCAGGGGCTGGCC TGAGAGGCAGAAAAGTCATCGCTTAGGAACTGGGTGCTGCCCAAACAGAA ACGTGGACTCTGGCATCAGACCGAGCTGTGCAAGGGCCACGTGTGACCTT GGATGAGTCACTTCACATATCTCAGCCTCAGTTTCCACTTCTAGAAAATG GGCTGTTTCCTGGCCAGAGCTGTAAGGGGATCTCTGTTCTCTCTCATGGC CCTGTGGCAGGAGCTCCAGCAGCCACCGTGGACCACGAGGCAGCCACAAG GAGGGAAGGGCATGCTAAGGACGGGAGATCAGGGAGGAGGAGCCTCTGAG GATGAGGGATCAGGAAGGAGGAGCTTCTGAGAATGGGGGATCAGGGAGAA GGAGCCCCTGAGAATGGGGGATCAGGAAGGAGCAGCCATTGAGGATGCAG GATCAGAGAGGGAGGAGCCTCTGAGGACGGAGGATCAGGAAGGAGGAGCC TCTGAGGACGGGAGATCGGGAAAGAGGAGTCTCTGAGGATGGGGGATCAG GAAGCAGGAGCCTCTGAGGACGAGGGATCAGGAAGGAGGAGCCTCTGAGG ACGGCGGATCAGGAAGGAGGAGCCTCTGAGGACGAAGGATCGGGAAGGAG GAGCCTCTGAGGACGGCGGATCGGGAAAGGAGGAGCCTCTGAAGATGGGA GATTGGGAAGGAGGAGCCTCTGAGGATGGGGAATCAGGAAAGAGGAGCCC CCCTGAGACCAGGGGATCAGGGAGGGGGGAGCCAGGGTTCCTGATGGCTC TGGGACCAGGGCAAGGCAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00597.hp1 others(72): Show HG00099.hp1 HG00408.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01261.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA19000.hp1 NA19000.hp2 NA19012.hp1 NA19012.hp2 NA19064.hp1 NA19064.hp2 NA19074.hp1 NA19081.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0002 a0001c0003 a0001c0004 others(9): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0017 a0002c0001 a0002c0005 a0002c0025 a0002c0031 a0003c0026 a0004c0014 a0005c0024	a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 others(19): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0003t0008 a0001c0004t0001 a0001c0004t0002 a0001c0006t0008 a0001c0017t0028 a0002c0001t0001 a0002c0001t0002 a0002c0001t0013 a0002c0001t0018 a0002c0001t0020 a0002c0001t0032 a0002c0001t0033 a0002c0005t0001 a0002c0005t0013 a0002c0025t0001 a0002c0031t0001 a0003c0026t0002 a0004c0014t0001 a0005c0024t0002	a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0103 others(72): Show a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0103 a0001c0002t0001g0113 a0001c0002t0001g0127 a0001c0002t0001g0141 a0001c0002t0001g0145 a0001c0002t0002g0166 a0001c0002t0002g0179 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0008g0005 a0001c0003t0008g0099 a0001c0003t0008g0185 a0001c0004t0001g0149 a0001c0004t0001g0180 a0001c0004t0002g0029 a0001c0004t0002g0061 a0001c0004t0002g0184 a0001c0004t0002g0190 a0001c0006t0008g0030 a0001c0017t0028g0112 a0002c0001t0001g0002 a0002c0001t0001g0033 a0002c0001t0001g0043 a0002c0001t0001g0048 a0002c0001t0001g0058 a0002c0001t0001g0062 a0002c0001t0001g0064 a0002c0001t0001g0072 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0105 a0002c0001t0001g0108 a0002c0001t0001g0111 a0002c0001t0001g0123 a0002c0001t0001g0133 a0002c0001t0001g0139 a0002c0001t0001g0143 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0152 a0002c0001t0001g0154 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0162 a0002c0001t0001g0172 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0193 a0002c0001t0001g0195 a0002c0001t0001g0198 a0002c0001t0002g0060 a0002c0001t0002g0067 a0002c0001t0002g0074 a0002c0001t0002g0155 a0002c0001t0002g0187 a0002c0001t0013g0168 a0002c0001t0018g0199 a0002c0001t0020g0106 a0002c0001t0032g0036 a0002c0001t0033g0165 a0002c0005t0001g0037 a0002c0005t0001g0068 a0002c0005t0001g0110 a0002c0005t0001g0129 a0002c0005t0001g0146 a0002c0005t0013g0136 a0002c0005t0013g0182 a0002c0025t0001g0066 a0002c0031t0001g0163 a0003c0026t0002g0016 a0004c0014t0001g0015 a0005c0024t0002g0132	75	200	0.3750	-1069	c.29 others(11): Show c.2922_*3990del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding		1822		chr9	TogoVar
FOXN3_chr14_89151177_89422233	89361678	ACCACCTC others(1061): Show ACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCTCCAC CACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCT CCAGCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCACC ACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAG CACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCT CCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACC TCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTAC CACCTCCAGCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCA GCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCC ACCACTACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCAC CTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAGCA CCACCTCCACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCC ACCACCACCACCTCCACCACCACCACCACCACCTCCAGCACCACCTCTAC CACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCTCCACCACCA CCTCCACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCACC ACCACCACCACCACCTCCAGCACCAGCTCCACCACCTCCTCCTCCACCAC CACCACCACCACCACCACCATCTCCACCACCACCACCACCATCTCTACGA CCACCACCACCACCATCTCCACCACCACCTCCACCACCACCACCACCACC ATCTCTACGACCACCACCACCACCACCATCTCTACGACCACCACCACCTC CACCACCATCTCCACCACCACCACCACCATCTCCACCACCACCTCCACCA CCATCTCCACCACCACCACCACCACCACCACCACCACCACCATCTCCACC ACCACCTCCACCACCATCT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0177 a0001c0001t0050g0177	1	230	0.0044	-1068	c.544 others(19): Show c.544-11938_544-10871del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
VAV2_chr9_133756894_133997324	133760072	GGCCAGGA others(1061): Show GGCCAGGAGCAGCAGGGAGGGCTGCGTGAGGAGGGTGGGGCCGGCCCTGG GAAGGGGTCCCTCCTGGAGACTCGGCTGACGTACCAGTGAATGGGGGCGA GGGCAGGTCAGATGGGCATGGTCCAGCCTGCACATCTGGGAGAAGGCTTG GCCCAAGGGAGAGGTTCCTGGGGTTGGAAGCTCCTGGAGAAGGGGGCATT TTCACTCTGCCCATCGGGTTCGCCTCCCAGCAGCCTCAGTGGGGCGAAGG CTGGCCAGGGTCCAGTCTGCAGGAAGGGTGGGAGACCCAGGGGCTGGCCT GAGAGGCAGAAAAGTCATCGCTTAGGAACTGGGTGCTGCCCAAACAGAAA CGTGGACTCTGGCATCAGACCGAGCTGTGCAAGGGCCACGTGTGACCTTG GATGAGTCACTTCACATATCTCAGCCTCAGTTTCCACTTCTAGAAAATGG GCTGTTTCCTGGCCAGAGCTGTAAGGGGATCTCTGTTCTCTCTCATGGCC CTGTGGCAGGAGCTCCAGCAGCCACCGTGGACCACGAGGCAGCCACAAGG AGGGAAGGGCATGCTAAGGACGGGAGATCAGGGAGGAGGAGCCTCTGAGG ATGAGGGATCAGGAAGGAGGAGCTTCTGAGAATGGGGGATCAGGGAGAAG GAGCCCCTGAGAATGGGGGATCAGGAAGGAGCAGCCATTGAGGATGCAGG ATCAGAGAGGGAGGAGCCTCTGAGGACGGAGGATCAGGAAGGAGGAGCCT CTGAGGACGGGAGATCGGGAAAGAGGAGTCTCTGAGGATGGGGGATCAGG AAGCAGGAGCCTCTGAGGACGAGGGATCAGGAAGGAGGAGCCTCTGAGGA CGGCGGATCAGGAAGGAGGAGCCTCTGAGGACGAAGGATCGGGAAGGAGG AGCCTCTGAGGACGGCGGATCGGGAAAGGAGGAGCCTCTGAAGATGGGAG ATTGGGAAGGAGGAGCCTCTGAGGATGGGGAATCAGGAAAGAGGAGCCCC CCTGAGACCAGGGGATCAGGGAGGGGGGAGCCAGGGTTCCTGATGGCTCT GGGACCAGGGCAAGGCAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG03490.hp1 HG00642.hp2 HG03490.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0107 a0002c0001t0001g0164 a0001c0002t0001g0107 a0002c0001t0001g0164	2	200	0.0100	-1068	c.29 others(11): Show c.2922_*3989del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding		1821		chr9	TogoVar
ASMT_chrX_1610059_1648081	1640618	GAGATAGG others(1060): Show GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCA CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA GCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACAC AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCA TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCA TGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGT GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC CATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAG GGACCATGTCCCAGTGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGA GGATGTGGACACAGCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCT CCTGTGAGGTCCATCCATCCTGATGGTTCATGGGGACGTGAGCACAGCCT CTGTGTGTGTGTTGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCA TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGGTGGTCCATGAGT ACATGGACACAGCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp2 HG02615.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0134 a0001c0001t0003g0090 a0001c0001t0002g0134 a0001c0001t0003g0090	2	223	0.0090	-1067	c.911 others(17): Show c.911-2184_911-1118del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8			chrX	TogoVar
CNTN6_chr3_1088024_1409217	1122457	GACATAAA others(1060): Show GACATAAAAGTAACCGTTGTAAAGTGGACAATTCGGTTGCATTTAATACA GGCACGATGTTGCACAACCACCACTATCCTCTTGGAAAACATTTGCATCA ATCCAAAGAAAGAAGCTCTTACCAATTAGTAAATTTCTCCCCATTTTCTC CCTTTCACTTTCCAGGCCGCAACAACTACCAATCTGTCCTCTGCCTATGT AGATTTATCAGTTCTGGATATTTTGTATAAATGGATTCATGCAATATATG ACCTTTGTGTCCAGCTTCTTTCACTTAGTATAATATTTTCAAGGTTTATC TACGTTTCGGCGTGTGTCAGAACCTCATTGCTCTTTATGGCTGAATAATA TTCCATTTTATGTACATATCACAATTTGTTTGTTAGTTGAGCATTTGGGC TGTTTCCACCATTTGGCTATTTTGAATGTGCTACTATAAGCATGTGTGTA CAGGTACTTGTTTGAGTGCCAGTTTTCAGTTATTTAGGGTATATACCTGG GACTGAAATGATAGGGTTACAAGGTGGTTCTATGTGGAGTTTTTTGGAAA CCACAAAACGTTTCCAGTACCACACTGTTTTGATTATCATACATTCATAT TTAGCTTTAAAACTGGGAAGTATAAGTCCTTCAAGTTTGTTCTTTTTCCA AGTTATTTTGGCTATTCAGGCCCTTGCAATTACATAGAAATTTGAAAATC AGCTTTTCCATAACCGTTTTCTAAAAAAGCCATTGGAATTTTAACAGGGA TTGCCTTGAATCTGCAATCACATGAGTAGTTAACACTGACATCTTAACCA CATTAAGCCTCCTAATCCATGAACATAAGATATCTTTCTATTTATTAGAT CTTCTTTAATTAATGTCAGCAATATTTTCTAGTTCTCAGTGTACAAGTCT TTCACTTTCTCTGTTACATTTATTCATGGGTATTTTATCCTTCAGAATGC TATTATACGTTGATGTTTTTTTCTTAATGTGCTTTTCAGATAATTGCTGG CATATAGGAACATAACTAATTTTTGTCCTTATTTTTTATTTGTTTTTTAA TTTAGTTTATAAAACTAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG01106.hp2 HG01255.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0001 a0001c0007t0001 a0001c0004t0001 a0001c0007t0001	a0001c0004t0001g0041 a0001c0007t0001g0100 a0001c0004t0001g0041 a0001c0007t0001g0100	2	232	0.0086	-1067	c.-82 others(19): Show c.-82-25469_-82-24403del	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22			chr3	TogoVar
HSD17B14_chr19_48808018_48841491	48834427	TCCTGGGT others(1060): Show TCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGG GGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCC TGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGA GGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAG GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCG AGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGC TGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGG AAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGG GAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCC TGGGTCTGAGGGAGGAGGGGATGGGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGG TCTGGACTCCTGGGTCTGAGAAAGTAGGGCCTGGGGGCCTGGACTCCTGG GTCTGAGGGAGGAGGTGCCAGAGCCTGGACTCCTGGGTCTGAGGGAAGAG GGGCTGGGAGCCTGGACC	T T	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	394	0.0025	-1067	c.127 others(14): Show c.127+311_128-70del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
ACAP3_chr1_1287391_1312930	1288276	CCCGAGTC others(1059): Show CCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC CCTGCTCCGTCCCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	295	0.0034	-1066	c.42 others(11): Show c.4222_*5287del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4114		chr1	TogoVar
HLA-DOB_chr6_32807763_32822002	32810977	GTTTCACC others(1059): Show GTTTCACCGTGTTGCCCAGGATGGTCTCAATCTCTTGACCTCGTGATTCG CCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CTGGATGACTGATTTTTTTAAATGTATACATGTATAAATGTTTTATTGCC ATTGAACAGGCTGGACACAATGACCATTCCTATCTATTTAGGCTCCCCCA CTGCCCCTCTCCCTGCTTTCTTTCCATGTCCTGACCGAAAAATCACAGAA TGCCTCTGTGACCCAGCCAGCTGCAGGTTTTTCCCAGCAGGCTCGAACCC AAGCCAAGGCCTTGAACACTCCCAGGCACTGATAAACGTATCTAGGTTGT TTCTCTAAACACTGAAACTTTGTCCCAGCCCTGAGCCAGGTTCCTTAAAC CTTCATATAAGCTCCATACCCTGACCCCCTCGCTGCAGACATACCTAGGC AGAACATCCCTTTTCTCTTGCTGTCTGCAAGGACTCCTGAAGCCCTCTGT AGGTAAATTCCCTAAACAAATGTTTTGGACTGATCACCCTGGCATTTAGT GCTTCTTTCTTTGAATCCTAACCCACACCATCTCAGAATGGTTTCAGGAA CTTCCTTGTGGTAACTCCCTTGACGCCACTTTTGAGGTGACTCCAGCAGC GGGTTCAGTGGGACAAAACACCCTAACGCTGGATTATAGTCTTAAATGTC ATTTCCCACTAAACTAAACCAGGGATTTCTGGAAAAATGGCTACCTCCAG GTCTGGCCAAGAAATGAACAAGATGAACCAGAAACATGTTGTCATCCCAG ATAACAAAGAAATTATCAAAAGAAATTTGCGTCAAAAGAACTCAGTTTCA TTTTTAGCCACTTGAAGAAGTTTTCACTCACCAAAAATGTAGGATATAAG CTTTAACAAGCATAAAAATTGCAATAGAGTAAAACCTATCAAACATTTAA ATCCTTCTGTTTATAATTATTTAAAGAATGAAAAGTAAAACCTGATTGGC CATCTGTAGGTTTTATTAATAGTAGGAAACCAATTTGCTAACTTGAAAAC TGGTAAATAAAAGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(290): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0004 a0003c0008 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0003t0003 a0001c0003t0004 a0001c0005t0002 a0002c0002t0004 a0002c0002t0008 a0002c0004t0006 a0003c0008t0005 a0005c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0034 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0039 a0001c0001t0003g0005 a0001c0001t0009g0040 a0001c0003t0003g0004 a0001c0003t0003g0029 a0001c0003t0003g0038 a0001c0003t0004g0019 a0001c0005t0002g0007 a0001c0005t0002g0041 a0001c0005t0002g0042 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0027 a0002c0002t0008g0026 a0002c0004t0006g0003 a0003c0008t0005g0013 a0005c0009t0002g0015	293	459	0.6383	-1066	c.11 others(11): Show c.1173_*2238del	HLA-DOB	ENSG00000241106.8	transcript	ENST00000438763.7	protein_coding		1785		chr6	TogoVar
NCKAP5L_chr12_49786152_49833413	49826266	GAGACGTA others(1059): Show GAGACGTAAACTGTCTCCTGGGAATCTGCTTACCCTGCTGGCCCTTGGCT GCCTCCTCCTCTCTCAGCTCCTCTTCAAAGGGCCAGGATGTCTCACCACA GGCGTGATGGGTGGGCCAAACCCAAGCCAGCAGGAGCAGGAGTTCATATC CCAAGGCACCAGGGGTGTGTGGGACAAGGTCTACTCTCAGGCTTAGAATA AGGGAATCTGTTCTCTCTACCCAGGGTTCTAATCCTAACTAATTGCAATT TAAAGCACACCCAACACTTTAGCTCCCTCTAAATGGAACCATTCTGCCAG AGGACCTTTCTCCCCTATAGATTCACCCATCAGTGGAACCATTCAATGTC AAAAAGTGGAAGGGAATATTAGAGCTATCTAGTCCAACTACTGACATTTA AAGATGGGGAAACTGAGCCCCAGAGAGCAAACTGTCTTGGCCAAGGTCAT ACAGCAAGCTAGGAAAAGTAGGGACCAGAGCTTCTGACTCTGTCTTTATT GATACCCGCTTGCTCCCCAAACACTTAGGTCTTCACCGGCCTATCATGAA GATCCTTCTTCCCTGCCAACCACAGCACCTGCCCCTCCAGGTCCTCACTC TCTTCGTGAGGGCCAGAGCTGGAGAAAGATGCTGGAGGGACAAAGCCACC TCATGCACAGACCATAGACTTTGAAAACAAGCTTGAACATGGGAATATCT CCCCGGAAAGGAATACACACGGTTTCTTTGGGATAGGAAACCCACTAATC CCAGGTTGTTTTTAGGAAGATGGGGGGACCAATTTGAGAAGTGAATTTTC CTATCACACAAGGAGTCTCAGAGAGCCAGATGGCGTAATGTCTGCAAGGG AGGGTCTGCAACAAGGCAAATGGGCTATGTTCATTTTCCCCGAAAGTACT GACCACAAAACGGTAAGGCATTGACACTCTTTCTACTGCTCCCCAGGCCA CCCCTGCCCGGGCCACTTCCTCTGGCTGACCATTGTGCTTAAGAAGGAGG ACCCATGACAGACGCGGAGAAGTGGGAGGGAGGGATTGCCTCTACAGCCA GAGAACTCCTTAGCCCA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	366	0.0027	-1066	c.-99 others(16): Show c.-99+990_-99+2055del	NCKAP5L	ENSG00000167566.17	transcript	ENST00000335999.7	protein_coding	1/12			chr12	TogoVar
SCNN1D_chr1_1275436_1297025	1288276	CCCGAGTC others(1059): Show CCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC CCTGCTCCGTCCCCCGT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0024 a0024	a0024c0033 a0024c0033	a0024c0033t0009 a0024c0033t0009	a0024c0033t0009g0278 a0024c0033t0009g0278	1	290	0.0035	-1066	c.166 others(17): Show c.1662+240_1663-929del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
ZNF679_chr7_64223474_64271931	64229540	ATAATCCC others(1059): Show ATAATCCCATTGTTGGCTGGATGTGCCTATGAGAGTCACAATCTCTCCTG CTTGTTGGACTGCATTATGACACAGCTCATAAAACTCATGGACTTTATAA AATATTTATGTCATATTTCCTGTGACCTTTTATAAGGAAATGCAGACCCT TACCTGTGTCCCTAAATCTAGCCAGGGGAGTAAAAAATCTGTTGTATTTG CTGGGTCTATGTATGAGAGTCATCATCATGTCTGCTAACTGGGCCTGGGT ATATGTAACAATTTCACTTCAGAGTGTGGATCAGGTAAAACAGTCATATC ATCTGAATTCAGGGCCAGGGATATGTCAGCATTCTCCTTGTGTGCAGTGC CATGGCAGGAAAGCCACATCACCTGAGTTCTGGGCTTAGTGATATGTTAC AACACATGCTGCGAACATAAGAGGATAGTCACATCGCTTAAATGTTGGGC CCAGAAATGTCACAATTCCCACTGTCGGCATGGCCCAGGCAGGAGGGTAA CATCATTTGGGTGCAGGATCCAGCGATATGTTACAATTCTTACTGGAAGC AGGACCCAGGCAGAAGGGAAGAGTAACATCACCTAGGTGATGGGTCTAAA AATATACTATGATTTCCCCTGTGGGCCACACTCAGGCAGAAAAAGATGGT AACATAACCCAGGTGATATACCCAGAGATATGTCCAAATTTCCCCTAAGA AAAGGGCCAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAGAAAAAGAAAAGGGCCAAGAACAGGAGAGTAAT ATCACCAAGGTGTAGCC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0161 a0010c0010t0001g0161	1	422	0.0024	-1066	c.-91 others(16): Show c.-91+889_-91+1954del	ZNF679	ENSG00000197123.9	transcript	ENST00000421025.3	protein_coding	1/4			chr7	TogoVar
CNTN4_chr3_2093866_3062959	2972797	TGTTCTCC others(1058): Show TGTTCTCCTTAAACCCCTCCCCTTCATATCCTTATCAAATTCCCTTTATC ACTGTCACATCTAAATTACTATCTTCTGCTTTGCCACCAAGACATTTTTA ATAGTAAGAGCTTCCTGCTCCTTTCTTAAGCTCTTCTCTTTTTCGGTCAT CAACTTCCCCTTGGAATTAGGAAAAGGCCCTTGTAGATTTGGGCTATTAA ATAGGAGAGGACCCATGTATCAAGTCCTTAAATGTTCTGTCATCATGAGA ATTATTTATTGGAACCCATTACCTGTGCGACTTCACAGTTCTTTTTAGAT GGTTTGTCTGAAAAGAATAAAGGCTCTTCGTTGAAATGAAATCGCTTTCT TTGCTACCTAGGGAAGAAAATAGTTGAGTCTAATTATTTAGAAACGAGAG GAGGATTGCTGTAAGGACTTGAGTCGATCATGGAAGTTTCTCCTATGCAA AACAGATCTGAAGGTACAGAAAACATAAAAATAATATCCCTGGGAAGAGA ACACCCAGGTATTAACTTAAGCACATAGCAGGCTTTATTGAGTTTTACAG AAAAAGTAAATACAGCTGACACAACCTCGAGACTAAAATTTTTGGTGACA TCTCTGTTTATCCCAGACACTGATTTCTCTATTCAGTTTTGTGATGTGGA GAGTATTCCGAAGGCCTGAAAGTGTTCAAAACCATTGTGCATAGCTTCAT TTTGGGGGAGAATGTTATAATTTGCTTCTGAAAACTAAGTAATCTCTGAC CTCTACCCACACATCAAGAAAGGTTAGAAATCAGTCCTAATCCCAGGAAT TGTCATCAATGTCTCTAAAATTCTAAAGACTGAATGAATTTTAATCCAAT AATCAACATATTTAATGTGTGCCTGTTTGTATATAAAGGACTGTATAAAA TGAAAGGGAGACAGAGAGATGGATACGACCTGGGATTTGAGTTCTGGAAA TCATTTGAGTAAATGGGGTGATGATATATTGAGGAAGTGTAACATCAATG CCATGTGAATAGATTGGGCAGCTTTGGAAGGTCATGAATTGGCCATTATG CGATTTGCCCAACACA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03209.hp1 HG03041.hp2 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0010 a0001c0006t0004 a0001c0005t0010 a0001c0006t0004	a0001c0005t0010g0001 a0001c0006t0004g0004 a0001c0005t0010g0001 a0001c0006t0004g0004	2	116	0.0172	-1065	c.135 others(21): Show c.1359-15544_1359-14480del	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
NKD2_chr5_1003802_1043943	1024390	TGTGGGCG others(1058): Show TGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCA TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCCTG CTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCA CTCTCTGTGGGCATCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTG GGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCA GCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGT CCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCT TCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCT CTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCG TCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCC ATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGT GGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCC AGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCGTTG TCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTC TTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACCCGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	319	0.0031	-1065	c.142 others(17): Show c.142-7761_142-6697del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
PWP1_chr12_107680799_107718162	107686811	AAAAAATT others(1058): Show AAAAAATTAGCCGGGTGTGGTGGTGGATGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCACAGCTGCACTCCAGCCTGGGCGGGCAACAGAGTGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAGAAAAAGA CCCTGCCTTTATGGAGTCGACATGTGCACATATAGTATGTCAGTGGGAGT TAAGTTCTACCAAACAGTAAAAGGGGTTGATTTGAATGTACTTGACCAAG ATAATGATGATGGTGATAGGAATGTGATTGGCTTGGACATGGAGTTAACA GGAATGACGGATTGGAGTAGTCCCAGTAGTTGTAAATTCCACCTGGGCAC AGACTGTTTTATTTACTGTTTCTCCAGGGTTTGGTTGATGGTAGGCACTC GGTGTTACATTTATAGAATAGGGACAGAAAATTATTTCATATAAAAATTG TTGGAGGAAACAGTTATTAAAAAGAGACATATAGCCTTTCAAATACTTGA AGACTGATTTCCAAATGAATCTACACATTGAAAATCTCACACTTGGGGAG GTTCAAAAAATACTGATGTTTATGTCCCACTCCCAAGTATTGTGTTGTAA TTAGCCTGTAGTGTAGCCTAAATTATTTAAGATTCCCTAGGTGATTCTGA TGTACAGATAAGTCTGGGAACCACTATTTGAAGAGTTTATAGGAAAAAGA GATTGAATTTATGAAATCCTAGAAAGGAAAACTTGGACCAAATGAGAGAA ATTGGACAAGCCAGTTGCGGTGGCTCGTGCCTGTAATCCTAGTCATTCAG GAAGCTGAGGTGGGAGGATCGCATGAGCCCAGGAGTTCACAGCTGCAGGG AGCTGTGACCATGCCACATCTCTTAAAAATTAAAATTAAGGCCGGGCACG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGCCCGAGGCAGGTGGAT CATTTGAGGTCAGGAGTTCCAGACCAGCCCGGCCAACATGGTGAAACCCA GTCTCTACCAAAATAC	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	342	0.0029	-1065	c.72+ others(13): Show c.72+851_73-562del	PWP1	ENSG00000136045.12	transcript	ENST00000412830.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
RBM5_chr3_50083919_50124021	50086315	AGCTACTC others(1058): Show AGCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGACCTGGATAGGTCGA GGTTGCAATGAACCGAGATCATGACATTGCACTCCAACCTGGGTGACAGA GTAAGACCCCGTCTCAAAAAAAAAAAAGATTATTTTGAGGTTTGTGAATA GCTATATAGCTTTTATGACTGGTGGTAAGCCCAGCTCAGCAAGCACCTCA GGAATATCCAAAGGTGCTTGTTGAACTGCTTTGGGGACAAGGCAGGCAAC GGCTAGTGGCTATGAAGTCTAGTGAGTTCTAGATTCTTGGCATCTGCATC ATCCATTGTAGGGTTTGCAGTGATGTCATCAATGTTAACTTTTAAATTTC ATTAATGCATGTACTCTTTTCTGATATTTTGCATATATGCTTCCCCATAA ATTGTATATATTTCCTCTCTAAATACACACACACCACATATATTATATTT CTACCTTTTCGTCTATATATGTATTGTGTATATACCTATATATAGATATA TACACTGACATCCCTCCACTTATTCTTGAAAGATTTGTTTTCCAGAGAGA GAAGAAAATGGTATAGGCACAGTTTTCTGTAACTGATGTATAACTTTCTG TAACTAATGGTATAGGCACAGTTTTCAATTTGTATGACCTGAAAAATCAG TTCTGGCTGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGG CTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGTCA ACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTG GTGGCGGGTGCCTGTAATCCCAGCTGTTTGGGAGGCTGAGGCAGGAGAAT CACTTGAACCTGGGAGGCAGAGTTTGCAGTGAGTTGAAACTGTGCCATTG CACTCCAGCCTGGGCAACAGGAGCAAAACTCCATCTCAAACAAACAAACA AACAAAAATGTTTGCAAAGCATCTAGGGCAATAATATAGCATCTAGTAAA GCGATCAACTAATGTTCCTCATTTTAATTTATTTTTTATTTTTATTTTTT TTTGAGATAGAGTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	284	0.0035	-1065	c.-27 others(11): Show c.-2767_-1703del	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		2603		chr3	TogoVar
CBFA2T3_chr16_88869858_88982207	88954624	TCCACCCA others(1057): Show TCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGC TCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTAC CCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGACTCCTG ACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCAGCCAAG GCTCCTGACCTCAGCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTC AGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCC TGACCCCATCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCAGCCA AGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACT CCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCT CCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGACTCCTGACCCCACC CAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGA CCTCAGCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGG CTCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCA TCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCAGCCAAGGCTCCT GACCCCGCCCAAGGCTCCTGACCTCACCCAAGGCTCCTGACTCCACCCAA GGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCC CACCCAAGGCTCCTGACCTCAGCCAAGACTCCTGACCCCACCCAAGGCTC CTGACCCCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCACCC AAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGAC CCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGC TCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAC CCAAGGCTCCTGACC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	284	0.0035	-1064	c.151 others(19): Show c.151+20969_151+22032del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CDH4_chr20_61247261_61945617	61783486	CTGTGCCC others(1057): Show CTGTGCCCCCGAAAGAAATGTAATCCCAGTTCCTTGGGATAGTTCTCAAG GCCCTCCGATATCCTGTGCCCCTGGGAGAAATGTAAGCCCAGTTCCTCAG GACAGTTCTCGAGGCCCTCAGATGTCCTGTGCTCCCAGGAGAATATAAGC CTAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAA GAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCCGGGCCCTCAGATGT CCTGTGCCCCCGGGAGAAATGTAAGCCTAGTTCCTCGGGACAGTTCTCGA GGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCG GGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAA TCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCC AGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTG TCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGA GGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCG GGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAA TCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCC AGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTG TCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGA GGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCG GGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAT CCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGATGTCCTGTGCCCCCA AGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCCGATA TCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGA GGCCCTCAGGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 HG02965.hp2 HG02451.hp2 HG02922.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0001c0003t0054 a0002c0002t0004 a0001c0003t0001 a0001c0003t0054 a0002c0002t0004	a0001c0003t0001g0020 a0001c0003t0054g0086 a0002c0002t0004g0068 a0001c0003t0001g0020 a0001c0003t0054g0086 a0002c0002t0004g0068	3	106	0.0283	-1064	c.576 others(19): Show c.576+10314_576+11377del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
DPH7_chr9_137549444_137583925	137565600	ACTCTGTC others(1057): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGA TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	340	0.0029	-1064	c.641 others(16): Show c.641-1510_641-447del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818525	ATGTACCG others(1057): Show ATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGG CCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGG CGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCG AGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGA GGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGG GGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA GGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTA GAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCG TAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGA CTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG01891.hp2 others(34): Show HG01109.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0003 a0001c0004 a0001c0006 others(7): Show a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0018 a0001c0020 a0002c0010 a0003c0024 a0008c0026	a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 others(7): Show a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0018t0001 a0001c0020t0003 a0002c0010t0001 a0003c0024t0001 a0008c0026t0001	a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 others(34): Show a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0095 a0001c0003t0001g0102 a0001c0003t0001g0105 a0001c0003t0001g0121 a0001c0003t0001g0130 a0001c0004t0001g0157 a0001c0006t0001g0146 a0001c0006t0001g0147 a0001c0006t0001g0148 a0001c0006t0001g0152 a0001c0006t0001g0154 a0001c0006t0001g0155 a0001c0006t0001g0159 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0052 a0001c0007t0001g0053 a0001c0007t0001g0054 a0001c0007t0001g0055 a0001c0007t0001g0082 a0001c0008t0001g0150 a0001c0008t0001g0156 a0001c0008t0001g0158 a0001c0018t0001g0062 a0001c0020t0003g0149 a0002c0010t0001g0126 a0003c0024t0001g0074 a0008c0026t0001g0167	37	170	0.2177	-1064	c.354 others(18): Show c.3540+413_3540+1476del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAD1L1_chr7_1810795_2237945	1991112	CGAGCACC others(1057): Show CGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTG GCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCA CTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGA GCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCCGCCCC ACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACC CGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTG AGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGG TGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCC GCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACG AGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGC CTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACT GCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGC GCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCAC CAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTG CCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAG CACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTG CCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGC TGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAG CGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCT CACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGC TGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGC CACTGCTGGCCTCAT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	264	0.0038	-1064	c.141 others(20): Show c.1416+9889_1417-10572del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
SYT16_chr14_61807703_62117550	61826068	ATTTGTTT others(1057): Show ATTTGTTTTTATTTCTTCATTCATTCTTCAACTCACTTATTCCCGTTCAG GGTTGTGGGTGGCTGGGGCCTGTCCTGGCAGCTCAGGTGCAAGGTTGGAA CCAGCCCTGGACAGGATGCCATCCCATCTCAGGGCACTCACACACAGCCA CACTCACTCACGCTGGGACCATGTGGACATGCTAGTTCGCCTCATGTGCA CATTTTTGGGATGTGGGAGGAAACTGGGGTACCCAGAGAAAACCTATGCA GACATGGGCAGAACATGAACTCCACACAGACAGTGGCTCTGGTGTCAGGA ATAGAGTGTTTTGTTCTCATCAATGTTATAACAAAACAACATTATTTGAG AACCTGCTGTATTTTTTCTGGGCCCAGTAATTTTCTTTACAGATGAAGAT TCCAATTTCCTGTCTCTGTCTCTCTCCCTGAAAGTGCTCCTGGGCATAAG CCTAGTTGTCATTATTTTGCGAATCCAGGAGGTGAAGAGACCTGGCAGAC TTCCCTTTTATTATCATGGACTTGTCCTGAATACTCCATTTTTGGTACAG AACCTCATTCTTGCCACGAGGGATGCGAGGTTTCCAAACCCACAGCCTCT CTGCTTTTATTTCTCCAGAGATTAAACAGAGATCCCTGTAGACTTGCTGC ATTGGTCAGCTGGGACTCTCATAACAAGATACCACTGTCTGGGTGGCTTA AACAACACACACGTATTTTCCTACAGTTCTAGAGGTTGTAAGTCCAAGAC TGAGGTGCCAGGAGGGTTGGTGTTTGCTGAGGCCAAACACAACTTATAAA TACCCCAACCCCTTTTAATATTCCTGGCTTGCCGGTGGCACCTTCTTTCC GTGTCCTTACCAGGGTGGAGGAGAGAAAGCTCTCGTGTTTTTTCCACTCT GCGGAAGCCCACCAGTTCCATTAAATTAGAGTCCCACCCTTATGACCTTA TTTAATTTGAACTACCTCTTTAAAGGCCCCATCTCTAAATACAGTTGTAT TCGGAGGTAGTGGAGTCAGGGCCTCAACATATGAATTTTGGGGAACATAA TTCAATCCATGACAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp1 HG02258.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0037 a0001c0001t0010 a0001c0001t0037	a0001c0001t0010g0026 a0001c0001t0037g0027 a0001c0001t0010g0026 a0001c0001t0037g0027	2	174	0.0115	-1064	c.-32 others(21): Show c.-325+13261_-325+14324del	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
THEMIS_chr6_127703200_127906058	127824817	TGACAGGC others(1057): Show TGACAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCA GTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGAC TCCGTCTCAAAACAAACAAACAAACAAACAAACAAACAAAACTAACTGAA ATATTCTCAGAGAAATAAGATGTATTTTAAAAACAAGAACAGTGTAAAAT ATGTAAAATGATGTAAGAAATAACTCTTGGAAATTAAAAATATGATAACG AAAATTAAAAATTCATTAAAACAGTTGGAAATGTAGTTATGAAAATTTTC CCTGGAGGTAAACAAAAGACAAAAAGATATAAAATAGAAAAGAAAAAAGG CCCTAGAAGATCAGTATGGGAATTTCAGTATGAGATTTGAAATTAAAGAC AGAGAGAAGAGAAAATATAATTGAGTGGACATTATCAGAGAAATTGTTCC AAATATGAAGCACCTAAATATTCAGATTGAAAACTGTCATCACTAAGAAA GAACAGACCCACCCCAAGTCACATTACTGTGAAACTTCAGAATACCACGT ATAATCTCTCCAAGACGATACAGGATGGTGGAAGATAAGGGAGTAAAGTT TTCAAAATTCTGAGGGGAATTTATTCTCAACCTGGAATTCTGTAAGTAGC CAAACTATCAATCTTATATGTGTATAGAATATTTTTCAAACATTCATGCA CCGTTCTCAGGAAGCAAGGGAAGGTTGGCCTGCATAAAAATTGGAAGAAA GTCAAGATAGAGGGAGTTATTTGATTTCAGAAATAGCTAGTCAACACAGA CACAAGTCAACAGGGAATCACCAGGATTATTTTAAATGGAATTCCCAGGG CAGCACCTATGCAGTTGGTCTCAAAAATAAGCAATTCCAATTGGAACATG AGAACGAAGAGTTACAAAGGAATACATTCAGGAAAATAAATTAATAGAAA AGGTAGCCTTCCTGATAGTTTGGGTTCTTTGAAAAATTACACTGAGTGGC CTTTTTTTATAGAGTTGAAGAATGCTCTAAGACTTAGGATAAAATTGAAG AAAATCAAGCAAAGA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0217 a0001c0002t0006g0217	1	223	0.0045	-1064	c.709 others(17): Show c.709+3595_709+4658del	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	3/5			chr6	TogoVar
FAM117A_chr17_49705332_49769131	49749457	GTCCCAGC others(1056): Show GTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCCTGAATCTGGGAG GCAGAAGTTGCAGTGAGCCGAGATCGCGCCACTGTACTCTAGCCTGGTGA CAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGGAGAT TGTTGAGGGCAGAACACAGTGAGAGTGTTTCTTAGTCTAAGGAAGCACTT TCTCTAGAAAGTTCCTGGCCATCCTGAATATGCTCAGTGTGCTTCAGCAT ATATATAGCTGCAACCCTGCTGACTCCACTGCTGGGTCAATGTGAGGCGT GGACTGGGCTGGGACACACGGCAGTGGGCACCCAATCAGCTCTCAGAATC TGATGCCAACCTGGTCCAGCTAGAGTAGTAAGGACCAGCTATGGTCTCCT AAGAGGTGGCCTACTATAACGGTCAATACCTGGGCTCACATCCTGCTTCC ACCCCAATGTGCTATGTGAACTCAGACTGATCACTTAACTTCTCTGGGTG TCAGTTGTTCCATCTGTTAAATGGGGAGAGTAAGATATGTTATCAGGATG TAGAAGAAAATTTCCATTCCAGAGAACTCCTAGTGCAGTCAAATTAGTCT CACATATATCCATGTGTTAAGTATCTTCTTTGGAAATAACTTCAAATTTA TAGATGCAAGAATAAGAACAGTACATAGAACACTCATATAATCTTTACAC AGATTCGCCTATTAACAGCTGCCCCATTTGCTTTACTGTTTGCTTTCTTC ACATGCACTTTTTCTTACACATGCTCAAACACGCCCACATGTCCACACGC AAGACAGATACTCACATGCAGACACACACACACACACTTTCCTTCATTGA GTTTCCTTGTGTGGTGTTCTATTTGAAAAGAACAGGGAACTACTGGAGGA GGGGAGGATCAAGATGAAGAGAAAGCGAAGGAGGCATGCTATTTGGTGAT GGTTCCACAGCTCTGTTCCTTTTTCTTTGCCAACAATGCAAACAGCAAGC ACTCAGGTGTTCCTGCTTTAGAGATGAGCTATTACTGGCCGGGCATGGTG GCTCACGCCTGTAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG00741.hp2 others(8): Show HG00140.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01123.hp1 HG01167.hp1 HG01361.hp1 HG02004.hp2 HG02148.hp2 HG02738.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0168 a0001c0001t0001g0169 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0262 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0306	11	336	0.0327	-1063	c.196 others(19): Show c.196+13372_196+14434del	FAM117A	ENSG00000121104.8	transcript	ENST00000240364.7	protein_coding	1/7			chr17	TogoVar
FAM149A_chr4_186099704_186180337	186172332	TCTAGGAA others(1056): Show TCTAGGAATATGTCATTTGTAACTTTGTACTCTGACGTATTTTCTAGTCT CACCCTATTAGTAATTCTGTCAAAATCCTAGACGCTAGTAGATATTAGTA TTTGAGACAATATGTCAGAGTCTGAATAAGACTCAGCTTGTTCTAGTCAT GCTGAGTTTCTCATATATTTTTTAAAAGTGCTTCCGCCATGAACCTCTTT GAGAAATGTCAGTGGCAAAATCTCCCAAGCTAATTTTCTTTTTCTATGTT CCATCTTCAAATTCAGACAGTTCACGTGAAGTACCCCACATTTATTGATC TTAGGGTTGAATATAAACGCAATTAAAAGCTATGGCAGGTGATGTCATCT TTATTGTTTACAGTCGAAGCTCCTCCATGGGAGGGGAGCCTCCCACCCTC CACGTGCCATCAGGAGCTGGCCTTTGCCCAGACGCCACCACTGCAATGAC ACCTTCCCAGAGCCCTCGTCTCCTCGCGCTCTGTCCTGCTCTGCCTGGCT TTTCTTCAGAGTGTGTTTCCCCATCTGACATTACTGTAGAAAATGGAGCA GAGAACAGGAAGGGGAATTAGCAGAGATGAGGCTCCAGGCATGTCTTCCT CTTGTCCCTCTCCCCACTGTTTCTCTTGATTGTGATTCAAGTCCTTACAC TCATTTTTACATTCTCAAATCTCAAATCAGCTAATTTCCTCTTTTCTATC AGATAATTGCATTTCATCAGTCTAATTTTTACTAATCCAAACTGTAACTT TATAAGGCTATATATATGAGCATATTTATAAACTTAGATTTATAAACTAT ATACACACATATATGTATCATATAAATGCATAATAAATTACTTTCAGACT ATTTCTGGCTGTAAGGAGAAGGGATCATTGCCTACTAGTAGATGTCTGAA ATTTTAAAAGATGTGTTGAGACTAACATTAATGTTGTCCTTTATCACAGG GTGACAAAAATGACCCAGAGCCTTGCCTCTGTTTGAAAATTTCTCCTTGA CTTTGCTGACTCCATTTCTTTTTTCTTTTCTTTTTTTTTGAAACGGAGTC TGGCTCTGTGGCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01256.hp1 HG01258.hp2 others(21): Show HG01167.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01934.hp1 HG01993.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02559.hp1 HG02622.hp1 HG02723.hp2 HG02970.hp1 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 NA18906.hp1 NA18950.hp2 NA19060.hp2 NA20300.hp1 NA21309.hp2	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0011	a0002c0007 a0006c0009 a0006c0029 others(5): Show a0002c0007 a0006c0009 a0006c0029 a0006c0045 a0006c0059 a0007c0011 a0011c0025 a0011c0058	a0002c0007t0013 a0006c0009t0008 a0006c0009t0013 others(11): Show a0002c0007t0013 a0006c0009t0008 a0006c0009t0013 a0006c0009t0024 a0006c0009t0041 a0006c0009t0044 a0006c0009t0086 a0006c0029t0013 a0006c0029t0024 a0006c0045t0048 a0006c0059t0013 a0007c0011t0008 a0011c0025t0008 a0011c0058t0071	a0002c0007t0013g0268 a0006c0009t0008g0002 a0006c0009t0013g0029 others(20): Show a0002c0007t0013g0268 a0006c0009t0008g0002 a0006c0009t0013g0029 a0006c0009t0013g0226 a0006c0009t0013g0227 a0006c0009t0024g0028 a0006c0009t0041g0303 a0006c0009t0044g0225 a0006c0009t0086g0357 a0006c0029t0013g0257 a0006c0029t0024g0256 a0006c0045t0048g0008 a0006c0059t0013g0316 a0007c0011t0008g0160 a0007c0011t0008g0162 a0007c0011t0008g0164 a0007c0011t0008g0171 a0007c0011t0008g0200 a0007c0011t0008g0201 a0007c0011t0008g0204 a0007c0011t0008g0300 a0011c0025t0008g0026 a0011c0058t0071g0288	24	390	0.0615	-1063	c.34 others(10): Show c.347_*1409del	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14	347	INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186175962	GTGAATAA others(1056): Show GTGAATAATGGGAGCTCAGTGAGCTAACAGGAGCTGAGGGACTGAGGTCC CTTTTGGACTATGGGAAATATGAAATAAGAAGCCACTGGAGCAGTTGAGT TTTGGGGATAGAATGATATAATCGACAAGAGATGATCCTGTTTCAGTCAG ATGATAGTGGTAAGGCTGATGAGAATCCCAGGACTTTGCATGTGTTTTGA AATTTGAGCCAAAAGATGTGCTGTTGGATGAGAGGTGGAGTGTGTCTACC AAAAGAATCGAGAATGCCTCCAGGCTTTTGGCTTCACACTTGGAAGGATG GTGTTGACACTCACTGAAATTGGAAAGACTGCAAGGGGAACACGTTTGGC AGCATGAGGGGCAAGTTATGTGTGAGATGCCAATTAGATGCCTAAGTGGA GATATTGAGATATTTGGATATCCACACTTGGGTGTGGAGGTGAGGTATAG ACTGGATGTATAAATTTGGGGATTGTCAGCACGTAGATGGTATTTAAGAA CTGAAATGGATGAGGCAACCAAGAAAATGAGTGTAGAGAAATGGAGGAAA AAGAAGTACTGAGCCTTGTGCCTTTTAACATCTAAAGGCCTGGGATGTGA AGGAAAACCAGCAAAGCAGACTGAGAAAGAATGGCTGGTGAAGGGAAATA AGAGTCAGGAGAATGTGGCGTCCTCAAAGTATGTGTGTGTTTGTGCGGGG GAAGTGTTTCAAGGAAGTGATAGGGACTCAAGTATGTTGAATGCTGTTGA TGAGTCAATTACGATGAGGTCTGAGAATCAGACTAAAGGTCTAGCCACAT GGAAGTTACTGGTGGCCTTGACAAGATCTGCTAGGTGAATGGACAAGGCG AAAGTAGGCTTGCAGTGGGTTTGGGAGAAAAGAAGAAGAGAGAAATCCAA GACAGTAGTCATGGGCAAGTCTTCCAGGGAATTTTTCTGTACAGGGGAGT AGAGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGCACGTG TGTTTCCTAGTAAGGTTCATCTTGATGAATGTCATTATTCAGTATAAAAA TGTTGATCCAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG03225.hp1 HG01433.hp2 HG03225.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0008 a0007c0011t0008	a0007c0011t0008g0160 a0007c0011t0008g0162 a0007c0011t0008g0160 a0007c0011t0008g0162	2	390	0.0051	-1063	c.39 others(11): Show c.3976_*5038del	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding		626		chr4	TogoVar
KCNQ1_chr11_2440008_2854105	2536690	CAGCCTGC others(1056): Show CAGCCTGCCAGAGGGACCGCTGGGCCTATCTCCAGCCACGTGGGTCGCGA GAGTCGACCTGGGCTGCGTGATGGGGGACCCCAGGCTGGGCGGCTTAAAC CGTGGAGGTCGCCCTCTCACAGCTCTGGACGATGGAGGGCCGAGACCCAG GTGTGGGCAGGGCTGGTTCTTCTGAGGCCCCTCCCGGCTTCTGAGGGTGG CTAGCAACTGTCTTCTAGATGTAGTACCCCAATCCCCCCCAGTCCCTCCC TTTACCTCACAGGGCATCCTCCCTGCGTGTGAGTCTGGAGCCAAATTTCT CCTCTATGTAAGGACACCAGTCTTACTGGATTGGAGGCTACCCTACTCCA CTGTGACCCCCCTCCTAACTGATCATATCTGCAGGGACCCCATTTCCAAA CAAGGTCTTACTCTGAGTACTGGGGATTAGGGCTTCATCATATGAATTTG AGGGCAACCCAGGGGTCTCCAAACCATGGCCCACAGGGTGGCTCCCTGTG TGTGTAAATAAAGCTTTATTAGCACACAGCACCACATACTTGAGGGCCTA ATGCCTCTGGCTGCTTTGTGCCATGGCAGATTTGAGTCCTGCCATGGAGA CCATGCAGCCCACAGGGCCTAAGATTTCTACTACCTGACCTTCCAGGAAA GGTTTGCCACGCTATTTATTTAGCAGGATAATTTTGGAAAGAGCAGTTGC TAGGGGCATTTAAACTTGCAGTCGAATTAGTAACAATTTTATTTTTTGGG AAAATAGAAGTGGGAGAGCGTGTGCCCCGGGCCAGCCCACCGTGCCCCAC GTTTCTACAGTGCCCAGGTTGGCGCAGGGCCTTTTGGTTCCACAGTCTGT GTCTTTCTTCCTGGGTGTCTGAATTTTGATTTAATCTCAGGCTTGTCAGA ACGAGCAGCTCCCAGGCACCCTCTGCCAGGTCAGCAGTGGCTTTCATCTT CTGCCATTTGCTCTGCACGTTTCTCTCTATATGCAAAAACCTATATGGGT TTTGTGGGGTTTTTTGTTGTTGGTTTTTTATTTTTATTTTTTTGAGAGAG AGAGGGTCTTGCTG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	208	0.0048	-1063	c.477 others(17): Show c.477+8673_477+9735del	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	2/15			chr11	TogoVar
LYPD8_chr1_248734415_248760759	248746564	GCAGCACC others(1056): Show GCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCA TCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAC CCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCG CACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCAC CCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACG GCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGC ATCACCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCA CCCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCACCCAGGGCATCG CCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAC CCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCG CACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCA GGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCTGCACGGCC AGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATC CCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCC ACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCA CGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGG GCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAG CACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGC CCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCAC CCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACG GCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGC ATCCCCCGCACGGC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18522.hp1 HG02486.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0143 a0002c0002t0001g0144	2	374	0.0054	-1063	c.337 others(16): Show c.337+662_338-1286del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
POPDC3_chr6_105152900_105185014	105171732	TTAGTGAA others(1056): Show TTAGTGAAATTCCAATGTTAACACTATTTAAGTCCAGTTTTCAAAACTGT GATCTATTTTAAATATTACTAACTAAAAATACACCTTATCTACAAATAAA CTACCTAACACTTATTTCGTTTATTTTATTATATTAGAGATGGAGTCTCC TTGTGTTTCCCAGCCTGGTCTTAAACTCCCAGACTCAAGTAATCCTCCCA TCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAG CCATTAAAACTCATTTAAAGTCAGTTGTTGCAAAGCCAAAATTGACAAAT GGGATCTAATTAAACTAAAGAACTTCTGCACAGCAAAACAAACTACCATC AGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTTGCAATCTACTC ATCTGACAAAGGGCTAATACCCAGAATCTACAATGAACTCAAAACAAATT TACAAGAAAAAAACAAACAACCTCATCAACAAGTGGGCGAAGGAGATGAA CAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAA AATGCTCATCATCACTGGCCATCACATAAATGCAAATCAAAACCACAATG AGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAA CAACAGGTCCAGTGGAGAGGATGTGAAGAAATAGGAACACTTTTACACTG TTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGAT TCCTCAGGGATCTAGAACTAGAAATACCATTTGACCTAGCCATCCCATTA CTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATG CACACATATGTTTATTGCGTCACTATTCACAATAGCAAAGACTTGGAACC AACCCAAATGTCCAACAATGAGAGACTGGATTAAGAAAATGTAGCACATA TACACCATGGAATACTATGCAGCCATAAAAAAGGATGAGTTCATGTCCTT TGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATTGC AAGGACAAAAAACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01168.hp1 others(10): Show HG00099.hp2 HG01069.hp2 HG01168.hp1 HG01169.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02630.hp1 HG02683.hp2 HG02738.hp2 HG03225.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0005 a0002c0003t0016 a0001c0001t0001 a0002c0003t0005 a0002c0003t0016	a0001c0001t0001g0054 a0002c0003t0005g0012 a0002c0003t0005g0023 others(7): Show a0001c0001t0001g0054 a0002c0003t0005g0012 a0002c0003t0005g0023 a0002c0003t0005g0050 a0002c0003t0005g0051 a0002c0003t0005g0052 a0002c0003t0005g0055 a0002c0003t0005g0056 a0002c0003t0005g0058 a0002c0003t0016g0057	13	258	0.0504	-1063	c.-25 others(19): Show c.-252+7038_-252+8100del	POPDC3	ENSG00000132429.10	transcript	ENST00000254765.4	protein_coding	1/3			chr6	TogoVar
SLC12A7_chr5_1045384_1117063	1071097	GGCATCAC others(1056): Show GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGA GCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGT GAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGC CCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCAC ACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTA TGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCC CCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCA GTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTG AGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0031 a0002c0011t0002g0031	1	118	0.0085	-1063	c.224 others(19): Show c.2241+1473_2241+2535del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TFRC_chr3_196044284_196087090	196047041	GAGACCAG others(1056): Show GAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAA AAATTAGCCGAGCATGGTGGCATGCACCTGTAATCTCAGCTACTGGGGAG GCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGCAGAGGTTGCAGTTAGC TGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAATGAGACTCCAT TTCAGAAAAAAAAAAAAAAGAAAAGAAAAGAAAATTATACAAAGCTGTCC ATTTGGGGTGGATTAAGCATGAGGCAGCTTAAAGGGCAAATGCAGCAAAC TGCAAAGGCTTTATTTAACTCAGCACCTAAACCTGTTGACAGCCACAAGG AAGACATTGGTATCTGATATTGAATTCTAGGCAAAGCTGTCTTGCAGATA ACCAGGTGTTTTACAAATATTTGTTTAGGACAGCTTCCTAACCCATGACC TTTCACATAGGCAGTTTCTCCCGTAGAATACAGCAGTTTAATAATCATCT TGCTTCTCAAGGGTATGAATGTGGCTAATTTGGACACGGGAAAGCTGGGG CATAGGTGAGGCAATTAGGCTTCCAATTCTAGGGGCCACAATTTTCGTGG CCATACTTAAGAATCCTGGCTGGCACTCATAGCAATGAGATTCAATTGTG TGATGGATTTTTTGGTAACCACACGGTAGAAGGCCAAAATAAGAAAACTC TCAACAATTACGCCTTTTGCTATAGAGCTGGTGTCCACTAACCATGTGGC TACTGAGCACCTGAAATGTGGCTAGCCAAAACTGAGATGTGCATTGCTTG AGGTACAAGGGAGTTTGAAGACACGGTATGGAGCACACCTGTAATCCCAG CCTCTCAGGAGGCTGAGGCACAAGAATTGCTTGAACTTGGGAGGTGGAGG TTGCAGTGAGCTGCGATGGCACCACTACACTCCAGCCTAGGCGATGGGGC GAGACTGTCTCGGGAAAAAAAAAAAAAAGGAGGCAGAGCGTGGTGGTGGC TCACACCTGTAATCACACACTTTGGGAGGCTGAGGTGGGCAGATCACTTG AAGTCAGGAGTTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(84): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02523.hp2 HG02559.hp2 HG03041.hp1 HG03491.hp2 HG03492.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18947.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0013 a0002c0011 others(1): Show a0001c0001 a0001c0013 a0002c0011 a0004c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0018 a0001c0013t0001 a0002c0011t0001 a0004c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 others(79): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0006g0279 a0001c0001t0013g0144 a0001c0001t0013g0344 a0001c0001t0018g0164 a0001c0013t0001g0131 a0002c0011t0001g0233 a0004c0005t0001g0114 a0004c0005t0001g0115 a0004c0005t0001g0116	87	384	0.2266	-1063	c.38 others(11): Show c.3838_*4900del	TFRC	ENSG00000072274.14	transcript	ENST00000360110.9	protein_coding		2242		chr3	TogoVar
TFRC_chr3_196044284_196087090	196047045	CCAGCCTG others(1056): Show CCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAAT TAGCCGAGCATGGTGGCATGCACCTGTAATCTCAGCTACTGGGGAGGCTG AGGCAGGAGAATCGCTTGAACCTGGAAGGCAGAGGTTGCAGTTAGCTGAG ATCACGCCATTGCACTCCAGCCTGGGCAACAAGAATGAGACTCCATTTCA GAAAAAAAAAAAAAAGAAAAGAAAAGAAAATTATACAAAGCTGTCCATTT GGGGTGGATTAAGCATGAGGCAGCTTAAAGGGCAAATGCAGCAAACTGCA AAGGCTTTATTTAACTCAGCACCTAAACCTGTTGACAGCCACAAGGAAGA CATTGGTATCTGATATTGAATTCTAGGCAAAGCTGTCTTGCAGATAACCA GGTGTTTTACAAATATTTGTTTAGGACAGCTTCCTAACCCATGACCTTTC ACATAGGCAGTTTCTCCCGTAGAATACAGCAGTTTAATAATCATCTTGCT TCTCAAGGGTATGAATGTGGCTAATTTGGACACGGGAAAGCTGGGGCATA GGTGAGGCAATTAGGCTTCCAATTCTAGGGGCCACAATTTTCGTGGCCAT ACTTAAGAATCCTGGCTGGCACTCATAGCAATGAGATTCAATTGTGTGAT GGATTTTTTGGTAACCACACGGTAGAAGGCCAAAATAAGAAAACTCTCAA CAATTACGCCTTTTGCTATAGAGCTGGTGTCCACTAACCATGTGGCTACT GAGCACCTGAAATGTGGCTAGCCAAAACTGAGATGTGCATTGCTTGAGGT ACAAGGGAGTTTGAAGACACGGTATGGAGCACACCTGTAATCCCAGCCTC TCAGGAGGCTGAGGCACAAGAATTGCTTGAACTTGGGAGGTGGAGGTTGC AGTGAGCTGCGATGGCACCACTACACTCCAGCCTAGGCGATGGGGCGAGA CTGTCTCGGGAAAAAAAAAAAAAAGGAGGCAGAGCGTGGTGGTGGCTCAC ACCTGTAATCACACACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAAGT CAGGAGTTCAAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03453.hp1 HG02717.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0027 a0001c0001t0011g0027	2	384	0.0052	-1063	c.38 others(11): Show c.3834_*4896del	TFRC	ENSG00000072274.14	transcript	ENST00000360110.9	protein_coding		2238		chr3	TogoVar
TFRC_chr3_196044284_196087090	196047063	CGAAACCC others(1056): Show CGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGCA TGCACCTGTAATCTCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTG AACCTGGAAGGCAGAGGTTGCAGTTAGCTGAGATCACGCCATTGCACTCC AGCCTGGGCAACAAGAATGAGACTCCATTTCAGAAAAAAAAAAAAAAGAA AAGAAAAGAAAATTATACAAAGCTGTCCATTTGGGGTGGATTAAGCATGA GGCAGCTTAAAGGGCAAATGCAGCAAACTGCAAAGGCTTTATTTAACTCA GCACCTAAACCTGTTGACAGCCACAAGGAAGACATTGGTATCTGATATTG AATTCTAGGCAAAGCTGTCTTGCAGATAACCAGGTGTTTTACAAATATTT GTTTAGGACAGCTTCCTAACCCATGACCTTTCACATAGGCAGTTTCTCCC GTAGAATACAGCAGTTTAATAATCATCTTGCTTCTCAAGGGTATGAATGT GGCTAATTTGGACACGGGAAAGCTGGGGCATAGGTGAGGCAATTAGGCTT CCAATTCTAGGGGCCACAATTTTCGTGGCCATACTTAAGAATCCTGGCTG GCACTCATAGCAATGAGATTCAATTGTGTGATGGATTTTTTGGTAACCAC ACGGTAGAAGGCCAAAATAAGAAAACTCTCAACAATTACGCCTTTTGCTA TAGAGCTGGTGTCCACTAACCATGTGGCTACTGAGCACCTGAAATGTGGC TAGCCAAAACTGAGATGTGCATTGCTTGAGGTACAAGGGAGTTTGAAGAC ACGGTATGGAGCACACCTGTAATCCCAGCCTCTCAGGAGGCTGAGGCACA AGAATTGCTTGAACTTGGGAGGTGGAGGTTGCAGTGAGCTGCGATGGCAC CACTACACTCCAGCCTAGGCGATGGGGCGAGACTGTCTCGGGAAAAAAAA AAAAAAGGAGGCAGAGCGTGGTGGTGGCTCACACCTGTAATCACACACTT TGGGAGGCTGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGATCAGC CTGGCCAACATGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0347 a0001c0001t0011g0347	1	384	0.0026	-1063	c.38 others(11): Show c.3816_*4878del	TFRC	ENSG00000072274.14	transcript	ENST00000360110.9	protein_coding		2220		chr3	TogoVar

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