Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ZCCHC2_chr18_62518025_62583579	62580794	CAGGTGGA others(873): Show CAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTG GACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCC TCCCGAGACGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGA GATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGATGGT GTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGACGGTGTCACA GCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTG TGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAG GCCAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGG TGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACC CCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCC GAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATG GTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCA CAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGATGGTGTCACAGTGC TGTGGAAGGCGAGGTGGACCCCTCCTGAGATGGTGTCACAGTGCTGTGGA AGGCGAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCA GGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGA CCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTC CCGAGATGGTGTCACAGTGCTGTGGAAGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02717.hp2 HG02559.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0043 a0001c0001 a0001c0043	a0001c0001t0024 a0001c0043t0025 a0001c0001t0024 a0001c0043t0025	a0001c0001t0024g0269 a0001c0043t0025g0056 a0001c0001t0024g0269 a0001c0043t0025g0056	2	310	0.0065	-880	c.42 others(11): Show c.4216_*5095del		ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding					2216		chr18	TogoVar
CCDC200_chr17_43216420_43233623	43232744	GACCAGAA others(872): Show GACCAGAAGACAAGAGTGTGAGCCCTCATTCACGCCCAGAGAAGGGCCGC TGGAGGGCTCCTTGGCCTAGCGGTAATGCCAGTGCCTGGGAAGGCCCTGG TTACTTAGCAGGCCTTGGTCTAGCGGTGGCCCCAGTGCCTGGGAAGGCAC CCGTTACTTAGCAGAATTACTACGCAGCCATAAAAAAGGATGAGTTCATG ACCTCTGCGGGAACGTGGAGGGAGGAAAAGGCCTCATTCTCAGCAAACTG ACACAGGAAGCGAAAACAAACACCGCATGTTCTCGCTCCTAAGTGGGAGT TGAACAGCGAGAACACATGGGACACAGGGAGGGGAACATCACACGCCGGG CCCTGACGGGGCGTGGGGGGCAAGGGGAGAGAGAGCATTAGGACAAATAG CCAACGCATGCGGGGCTTCAAACCTAGACGACTGGTGGATAGGTGCAGCA AAGCACCGTGGCACACGTGTACCTATGTTCCAAACCTGCACGTCCTGCAC ATGTACCCCAGAACTTGGGAGGGGGTGGGGGAAACCAAAAGAGCGAGGGA GAGGCGGGGGGGGGGAAGAGAGAGAGAGAGGGAAAGAGAGAGAGAGACAG AGAGAGGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGACGGAGAGACAGAGAGAGAGAGAGAGAAAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGGAGAAAGAAGAACTCCG GGTGGGTCCCATTCCTTTAAAAGGTCGCCACCCACTCGACTGCCAAGCTG AGATCCTAAGGACCTCCCCAAAGGAGGAGGTCGTGGCCTTCCCAAAGCGC AGTAGCCACGGTGGAAACGACAGCGTGCCG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	332	0.0030	-879	c.-50 others(11): Show c.-5069_-4191del		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding					4122		chr17	TogoVar
CRB1_chr1_197263252_197483455	197299720	TTAAAACC others(872): Show TTAAAACCTAAGTTGAACCAAAAAAGGCAGGACTCCATAGACCATGATGT GCTATACAGACGTGCCTCATTTTATTGTACTTCACAGTAATGTGCTTCAC AGATACTGCATTTTTTTTCACAAATTGAAAGTTTGTGGCAACTCAGCATC AAGCAATAGCATGTGCTCAGTTTGTGTCTCGGTGTCACATTCTGATAATT TTTGCAATATCTCAAACTTTTTCAGTATTTTGTTACATGTGTTAGGGTAA TCTGTGATCAATGATCTTTGATGTTCCTATTGTAATTGTTTTTGGGCACC ACAAACCATGCCCATATGGCAACCAACTTAATTGATAAATGTTCAGTATG TCTGACTGCTTCACTGATAGGCTGTTCCTCTGTTTCTCTCCCTATTCTCA GGCCTCCATATTCCCTGAGACTAAACAATATTGAAATTAGGCCAATTAAT AACGCTTTCAATGTTCAAGTGAAAGTAAGGGTCACCCAACTATCACTTTA AATCAAAATCTAGAACTGATTAAGCTTATGGAGGAAGGCATATTGACTAA GATAGGCTGAAACTAATCCTGTTGTGCCAAACAGCCAAGATGTCAATGCA GAGGAAAAGTTCTTGAAGAAGGTTAAAATTGCTACTCCAGTTCACACACA AATGGTAAAAAAGTGAAAGAGCCTTTTTGCTGAGATGGTGAAAGTTTGAG TGGTCTGGATAGAAGATCAAACCAGCCACAACATTTCCTTAAGCCAAAGC CTAACCCGGAGCAAAGCCCCTACTCTCCTCAATTCTATGAAGGCTGAGAG AAATAAGGAAGCTGCAGAAGAAAAGTTGGAAGCTAGCAGAGGTTGGTTCA TAAGGTTTAAGGGAAGAAGCCATCTCCATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0185 a0001c0002t0001g0185	1	184	0.0054	-879	c.71- others(17): Show c.71-28701_71-27823del		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11						chr1	TogoVar
KIR3DL1_chr19_54811468_54835778	54833548	GGTGGAGA others(872): Show GGTGGAGATATGGGCCTGGAGTGGAGATATGGGACTAGAGTGGAGATAGG GGCCTGGAGGTGGAGATCTGGGCCTGGAGTGGAGATATGGCCCTGGAGTG GAGATATGGGCCTGGAGTGGAGATATGAGCCTGGAGTGGAGATATGGCCC TGGAGTGGAGATATGGGCCTGGAGGTGGAGATATGGGCCTGGAGTGGAGT TATGGGCCTGGAGTGAAGTTATGGGCCTGGAGGTGGAGATATGGGCCTGG AGTGGAGATATGGGACTAGAGTGGAGATACGGGCCTGGAGGTGGAGATCT GGGCCTGGAGTGGAGATATGGCCCTGGAGTGGAGATATGGGCCTGGAGTG GAGATATGAGCCTGGAGTGGAGATATGGCCCTGGAGTGGAGATATGGGCC TGGAGTGGAGATATGAGCCTGGAGTGGAGATATGGCCCTGGAGTGGAGAT ATGGGCCTGGAGTGGAGATATGGGCCTGGAGTGGACATATGGGTCTGGAG TGGAGATACGGGCCTGGAGGTGGAGATATGGGCCTGGAGTGGAGATATGG GCCTGGAGGTGGTGATATGGGCCTGGAGTGTAGACATGGGCCGAGTGGAG ATATGGGTCTGGAGTGGAGATATGGGCCTGGAGTGGAGATATGGGACTGG AGTGGAGATATAGGCATGGGGTGGAGACATGGGCCGGGAGTGGAGATATG GGACTGGAGTGGAGATACGGGCGTGGGGTGGAGATATGTGCCTGGAGGTG GAGATATGGGCGTGGGTTGGAGATATGGGCCTGGAGTGGAGATATGGGCG TGGGGTGGAGATATGGATCTGGAGTGGAGACATGGGCATGGGGTGGAGAT ATGGGCCTGGTGTGTAGATATGGGCCTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01109.hp2 others(31): Show HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01496.hp1 HG02004.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 NA18906.hp1 NA18941.hp2 NA18957.hp1 NA18968.hp1 NA18974.hp1 NA19002.hp1 NA19043.hp1 NA19075.hp2	a0001 a0006 a0013 others(1): Show a0001 a0006 a0013 a0018	a0001c0002 a0006c0007 a0013c0015 others(1): Show a0001c0002 a0006c0007 a0013c0015 a0018c0022	a0001c0002t0001 a0006c0007t0001 a0013c0015t0001 others(1): Show a0001c0002t0001 a0006c0007t0001 a0013c0015t0001 a0018c0022t0001	a0001c0002t0001g0005 a0006c0007t0001g0009 a0006c0007t0001g0014 others(2): Show a0001c0002t0001g0005 a0006c0007t0001g0009 a0006c0007t0001g0014 a0013c0015t0001g0014 a0018c0022t0001g0005	34	394	0.0863	-879	c.32 others(11): Show c.3274_*4152del		KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding					2771		chr19	TogoVar
ABI3BP_chr3_100744156_100998421	100802785	CATTTTTA others(871): Show CATTTTTAGACTTTTACAGAAGAGTTTATTTCTCCAGGATACTAATATAC ATTAAACTACACATGTCATTTACCCTCTGTTTTTTGAAGTATAACCCACA GGACCTGGTAAACAAAGTATTGGGTTCATTAGGGTGTGAATTTGAGCCTA CATAAAATCTAGAACTGTTTGAACACATCAGAATCCAATGTGTTTGAACA CTTCTGAGAAAACTGAAATGTGGTAAGAGTTGCCTTATGATTATTCCTGG GGGTGCCACACCCCTGGGGCAAGGGAGAACCCTGATCATATGGCAGGGCC AACACCAGATTTAGGGACAGAAACTTAACTCTGAACATGTGGAGCTGGAG AGGTGACAGAAGACCACTAAGAGAGACCCTAGTTCTCCAGGAGGCAGTTC TCTTACTCTGCTCGTTCAAACTCTGGATAAAAAGAATAAATAGGGATAGT TGTTAACTATTTGTGTTGTTACAGGGATCAAGATCACGGGTTAGAGTTTG TATGAAAAGCAAGGTGTTGGTAGAATTAAGGCAAGTTTTTTTTTTTTTTT TCTGCCAAAAGTGGTCCGCTCTTTATAACTTAGCTGTGGGAGAACTTTTG AAGAATGTGGTTCAAGAGAAGGACTAGCTAACAGAGAAGATTTTAAAATA TATACCTTAAAAATAATTTTATGATAGTAAATTCCAAAGGTATATGAAAA TAGAAAAATAGTAGAATGAATTCTTAGGTACTCACCACCTGGCTTCAATA ATGGCCAACTCATGCCCAGTAGGGCAAATATTAAATATTAAAAGAGGAAA AAACTTAACTATTCAATATATTGATGTAATGAGATTATACTAATATTATT TTTTATACTGAAGAGGAAAAGTAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(19): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01106.hp2 HG01192.hp2 HG01258.hp1 HG01346.hp2 HG01981.hp2 HG02004.hp2 HG02698.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp2 HG04228.hp1 NA18947.hp1 NA18948.hp1 NA18962.hp2 NA18967.hp2 NA18970.hp1 NA19081.hp1	a0004 a0007 a0011 others(3): Show a0004 a0007 a0011 a0013 a0014 a0026	a0004c0007 a0004c0015 a0004c0049 others(6): Show a0004c0007 a0004c0015 a0004c0049 a0007c0018 a0007c0025 a0011c0060 a0013c0063 a0014c0052 a0026c0033	a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 others(10): Show a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 a0004c0015t0001 a0004c0049t0001 a0007c0018t0004 a0007c0018t0039 a0007c0025t0001 a0007c0025t0035 a0011c0060t0023 a0013c0063t0001 a0014c0052t0001 a0026c0033t0006	a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0093 others(19): Show a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0093 a0004c0007t0001g0108 a0004c0007t0001g0113 a0004c0007t0004g0182 a0004c0007t0004g0238 a0004c0007t0038g0237 a0004c0015t0001g0037 a0004c0015t0001g0043 a0004c0015t0001g0123 a0004c0015t0001g0126 a0004c0049t0001g0120 a0007c0018t0004g0212 a0007c0018t0004g0223 a0007c0018t0039g0200 a0007c0025t0001g0127 a0007c0025t0035g0190 a0011c0060t0023g0039 a0013c0063t0001g0020 a0014c0052t0001g0035 a0026c0033t0006g0181	22	236	0.0932	-878	c.375 others(19): Show c.3757+1129_3757+2006del		ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	51/67						chr3	TogoVar
BANP_chr16_87946434_88082316	87998543	TCCAGACA others(871): Show TCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGGACTCACCTGTCCT TCCAGACACGTCTCCATGCCCGCACGTGCGCGGCTGTACTTACCTGTCCT TCCAGACACCCAGACACATCTCCATGCATGCACGTGCGCGGCTGGACTTA CCTGTCCTTCCAGACGTGTCTCCATGCACGCACGTGCGCGGCTGTACTTG CCTGTCTTTCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGC TGTACTTACCTGTCCTTCCAGACACGTCTCCGTGCCCGCACGTGCGCGGC TGTACTTACCTGTCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGC TGTACTTACCAGGCCTTCCAGACACGTCTCCATGCACGTGCGCGGCTGTA CTTACCTGTCCTTCCAGACACGTCTCTATGCACGCACTTGCACGGCTGTA CTTACCAGGCCTTCCAGACACGTCTCCATGCACGCACGTGTGCGGCTGTA CTTACCTGTCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTA CTTGCCTGTCCTTCCAGACACCCAGACACGTCTCCATGCATGCACGTGCA TGGCTGTACTTACCTGTCCTTCCAGACACATCTCCATGCCCGCACGTGCG CGGCTGTACTTACCAGGCCTTCCAGACACGTCTCCATGCACGCACGTGCG CGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATGCATGCACTTGCA CGGCTGTACTTACCAGGCCTTCCAGACACGTCTCCATGCACGCACATGCG CGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATGCACGCACGTGCG CGGCTGGACTTACCTGTCCTTCCAGACAC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG04204.hp2 HG01257.hp2 HG04204.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0149 a0001c0004t0004g0341 a0001c0004t0004g0149 a0001c0004t0004g0341	2	350	0.0057	-878	c.363 others(17): Show c.363-5712_363-4835del		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNN2_chr19_1021608_1044065	1034303	CGGGAGCG others(871): Show CGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTG GGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGT GTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCG TGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTG TCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGC AGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGAC GGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAG ACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTG GGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGT GTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCG TGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCATGGGTGGGACACGGTG TCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCG GGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGAC ACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAG ACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGG TGGGACGGTGTCTGGTGTATACCGGGAGCGTGGGTGGGACACGGTGTCTG GTGTAGACGGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAG CGTGGGTGGGACGGTGTCTGGTGTAGACG	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	370	0.0027	-878	c.390 others(16): Show c.390+1678_391-879del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
DAPL1_chr2_158790317_158820990	158805482	TGCGATTG others(871): Show TGCGATTGAATTGCAAGCTGATTAACTTTGAGACCTATTCATTCTGTATC TAAAACCTGAGTCAAGCATGTGCCCTGCTTATTGTGACATTAGTTAACCT GCCTGAGCCAGTGGCTCAGGAACTAAAGTGTCTTATCTTGGAAATGACTT ACTAGTGGACAGCCAAAGGACAGGTCATTCATTTCTCTGCATCTCAGAAA AATGGGACTTACTATTAATTCTAACATCCACTGAACAATGCAGGCAGGGG AGTTGGCTAGAGAGTAATAAGATGGTGATTGGAATCTTCTTTAAAAACTC AATTGTTTTCTAATAGTCGTTAAATGACAGGAATTGGACTTTTACAGAAC TTAAACAGCAAAAGATAGCTCTTGCCCTAAGTACCAGGGACAGAAACAGG TTATGCGGAGCTTGAATCTTATGGACTTTCAGGGCCATTTTAAAAGAAAA ATAACCAAAAATGACCGATATGAAATGGGTAGGGCCCCTCCCAGGGCCTT GGGAGGAGCCACTGTGGCAGGAGACCCTAGGCTTAAATATCATTAGCTCC ACATATATCCCCCTCTGCTATTTACATCTCCTAGCAGGGCATGTGCACAG GATAGGAAAGCCTTGTTTTCATGGACAAACACTCCTTTGTATGTCATCTT AGAGAATAGCTTTTTAAAAATATGCTCTAGACCAGAATTTTCCAAACATC ATCAATCCATGTCCACTTCCTAATAGCTTCTACAAACCAACACAAACCAT CCAGAAAAAAAAAAATATGCCAAGTGCAGAGTTTCTTCAAGACATTGTAC TGTAGATTTGGCCCTGATTGAAACTCTCCTACAAAATAACTTGGCCTGAG AGAAAGAAGCCAGATGCAAAAGAGTACAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(16): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00733.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01978.hp1 HG02055.hp2 HG02602.hp2 HG02683.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03195.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0005t0002 a0002c0002t0001 a0002c0005t0001 a0002c0005t0002	a0002c0002t0001g0012 a0002c0002t0001g0088 a0002c0002t0001g0089 others(9): Show a0002c0002t0001g0012 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0005t0001g0149 a0002c0005t0002g0040 a0002c0005t0002g0041 a0002c0005t0002g0045 a0002c0005t0002g0046 a0002c0005t0002g0147 a0002c0005t0002g0148 a0002c0005t0002g0150 a0002c0005t0002g0151	19	358	0.0531	-878	c.146 others(16): Show c.146+1116_147-693del		DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
HYCC2_chr2_200968718_201076671	200971755	TGCTTTAT others(871): Show TGCTTTATTATGCTGTAAAATAGCTTTTCTCAACTGAGCTTCCTTACGTG AACCACAAAAAGACTATTTTCTCATTTTCCCTCAGGATGGTACACAAGAA CCACTGTATATTACATAGGAGAGAAGTTAACTTATAACTGTGGATACTTA GGATGTTAGGGCTTGATTCTTTCATGGATTTAGTTTGCCTATTAGCAATC TAGCTCTGTTGAGATCCAACCCCTCCCTTTCTTCCCGTCCTTCACAGGGG GACTGGCTTTCTGGGGTAGGTGCTTGGCAAGTGTACTAATAGTTGAGAAC AATCAATGCAATTATGCAGTATATTACGATGTTTAAGTTCACAAGTGCAT TCGCCTGAGTGTCTATGTTCAATGTTAGCTCTTCCACTTACTAGCTCTGT GACTTTGGACAGCTGTACTTTACTTTTCTCATAAAAGAAGAATAGTACTT ATCTAATGCTGTTGTACTGAGTATTAAATGAATGACTGCATTTTCTTTAA AGTGTTTAGAATAGTGCCTGGCACATCCTAAGCACCCAATAATGTTAGTT ATTGTTTAATTTACATGGGAAGAATCTTTGTACCATAAAATACTGTGACT TACCTGGACAAGAGTTGTATGTGTGGGGATAGTGTGTATGTGTGTGTGTG TATGTATGTATGTATGTGTGTGTGTGTATATAAAGTGCCTCCACTATTCT ATTAATATCACAATTATATTACAATACCTTAAAGGAAAATATTACTTTTC CTGTTGTACTTCTGTATTTTCTTTTGTTTTTTGTTTGTTTGTTTTGAGAT GGAGTTTTGCTCTTGTCCCCCAAGCTGGAGTGCAATGGCACGATCTCGGC TCACTGCAACCTCCACCTCCCAGGTTCAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	174	0.0057	-878	c.86 others(11): Show c.8637_*9514del		HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding					1962		chr2	TogoVar
SLC66A2_chr18_79897420_79956653	79920390	AGGAACCG others(871): Show AGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAG ACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAG GGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACC GAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGA GGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGA ACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGA GGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAG AGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTG AGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTC AGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAG ACGGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0194 a0001c0001t0009g0194	1	312	0.0032	-878	c.392 others(16): Show c.392-1868_392-991del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
TMEM117_chr12_43831081_44394758	43865655	CCACTGCA others(871): Show CCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCGTCCCAAAAAAAG AAAAAAAGAAAAAAAAAAAACTAATATAGACTCATACATACCAAGTATCA AATCAAGCCTTCACAAGTTCAAAGTGATTAGCCAGTAATTTTAAATTTAA TTTAAAGTGATTAGCCAAATCAGGCCTTCACCAATTTGAAATGATTAGCC AATAATTAATAATAATTAGTAAAATTAATACTCTTAGAGGAAGATAATAA AACAATGTATCATCTATAAAGTCCAGTTTAAAATTAAAGTTTATTGTACA TACAAAAAACCAGGACAGTGTGACCCATAGTCCAGAGAAAAAGTAGTTAA TAGAAACAGCACTTAGATGATCCAGAAGCTGGCATTAGCAAAGACTTTAT AACAGTGTTCATACTTTGTTCATGGGCAAGGAGATAGAAAACCACCAACA GTTTCATAGTCAAACTGCTGAAATAAAAGATAAAGAGAAAATTTTGAAAG CAGTCAGAACTAAGGTCACATTTCACATAGGGGAATGATGATATGAATGA TGGTTAATTTCTTATCACGAACAAGGGAGGCCAGAAGATATCTTTAAAGT ACTGTAAGAAATAAAAATTTCAACCTAAAATTCTATATCCAGCCAACATA TACTTACAAAATGAAGGTAAAATAAAGACACTTTCAGGCAGGAGGATTGC TTGAGCCAAGGAGTTGGAGACCATCCTGGGACACATAGTGAGACCTCATC GCTACCAAAAAAAAAAAAAAAAAAGTTATGTGAAGCGGTGCACACCTATA GTTCCAGCTACTTGGGAGACTGAGGCAGGAAGATTACCAGAGCCTGGGAG GTCGAGGCTGCAGTGAGTTGTGATTGCAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18906.hp1 HG02896.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0094 a0001c0001t0003g0095 a0001c0001t0001g0094 a0001c0001t0003g0095	2	108	0.0185	-878	c.277 others(19): Show c.277+20754_277+21631del		TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
YWHAZ_chr8_100911523_100957020	100945814	GCTAGGGA others(871): Show GCTAGGGAAATTTTGCAGTGCTGCTGACCTAATTCTATGCTCTTTCTCTA AAGAAGCCTTTCTGCTTGTTTAACAAATATTTGAGCATCTATTACACGTT GAGTATGCAAAGATCACTAAGTCTTACTCCTGAAAAGACCAAGGCTGGAA GCAAAAGCTTGTTTAGAATTCTCTTCAAAGCCATTTGTATAGTAAAGAAA TTAAACTCTCATTTATCCAAACTTTCAAAGTGTAAATACCATTAAAACTT TTTGGGAAGCCAGTGCTATTCTGGAGGGTAACGATGTGGGTAGGGACCAG AGTGAACTTCCTTAATAATCATAACAAGAAGAAACTATTTATATGAAGAG ATTATCTTGTTATCCTCATCTACTGGTTCTATGCAAACAAAGTTTCTTCA TAAGGAAACTAAAGGGAAGCATAGTCAAAACTGCTACAAGTTGGGCTGGA CGTGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGAGT GGATCACCTGAGGTCAAGAGTTAGACGTGACCTGGTCACCAGCCTGGCCG ACAAGGTGAAACCCCATCTTTACTAAAAGTACAAAAATTAGCTGGGCGTG CTGGTGCACGCCCAGTAATCCCAGCTACTCGGGAGGTCAAGGCAGAAGAA TTGCTTGAACACGGGAGGCGGAAGTTGCAGTGAGCTGAGATGGTGCCATT GCACTCCAGCCTGGGTGACAAGAGCAAAACTCAGTCTCAAAACAAACAAA CAAACAAACATACACAAAAAACAAACCTGCTACAAGTCTTTTCCTTGGAA AAGACTCACAATGACAGGAACTTTTATACTTTGTATATGGAAAACATGCA CATACCTACCTGGTATTGCAAATAAGCGT	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04228.hp1 HG03669.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0007 a0001c0001t0016	a0001c0001t0007g0056 a0001c0001t0016g0106 a0001c0001t0007g0056 a0001c0001t0016g0106	2	390	0.0051	-878	c.294 others(17): Show c.294+1904_294+2781del		YWHAZ	ENSG00000164924.18	transcript	ENST00000395958.6	protein_coding	2/5						chr8	TogoVar
DDX51_chr12_132131594_132149319	132135179	TCCCGAGT others(870): Show TCCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTC CCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGT GCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCT ACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCC CGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACG GTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCC CACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCG AGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGT GCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACC TCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCC ACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCC CCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCCGGTGCCCGCTCCTCCCACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02965.hp2 HG02976.hp2 others(2): Show HG01167.hp1 HG02965.hp2 HG02976.hp2 HG03540.hp1 HG06807.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0008 a0004c0004t0008 a0003c0003t0008 a0004c0004t0008	a0003c0003t0008g0044 a0004c0004t0008g0009 a0003c0003t0008g0044 a0004c0004t0008g0009	5	318	0.0157	-877	c.32 others(11): Show c.3216_*4092del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1414		chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241806535	CTCCCCCC others(870): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCC TCACGCCAGGGACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01943.hp2 HG01993.hp1 others(7): Show HG00438.hp1 HG01943.hp2 HG01993.hp1 HG02165.hp1 HG02615.hp2 HG03209.hp1 HG03710.hp2 HG06807.hp2 NA18943.hp1 NA19002.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0007 a0001c0001 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0007t0001	a0001c0001t0001g0033 a0001c0001t0002g0002 a0001c0001t0002g0050 others(6): Show a0001c0001t0001g0033 a0001c0001t0002g0002 a0001c0001t0002g0050 a0001c0001t0002g0150 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0095 a0002c0002t0002g0084 a0003c0007t0001g0045	10	285	0.0351	-877	c.23 others(11): Show c.2370_*3246del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2249		chr2	TogoVar
GALR1_chr18_77244848_77282900	77258606	GTGGTGAT others(870): Show GTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTCATAGT GGTGGTGGTGGTGGTCATGGTGGTGATGGTGATGGTGGTGGTGGTCATGT GATGGTGGTGCTGGTGATGGTGGTGATGGTGATGATGGTTATGGTGGTGA TGATGGCAATTGTGATAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTCATAGTGGTGGTGGTGCTGGTGATGGTGGTGATGGTGGTGGTGAT GGTGGTGGTGATGGTGGTGATGATGGTGGTCATAGTGGTGATGGTGGTGG GCGGTAGTGGTGGTGATGATGGTCATGGTGGTGATGATGGTGGTCATGGT GGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACA GTGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGATGGTCATGGTGGTGAT GATGGTGGTCATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATG GTGGTGGTCACAGTGGTGGTGGTGTTGGTGGTGGTCATGGTGGTCATGGT GGTGATGATGGTGGTGATGATGGTGGTGATGATGGTGGTGATGATGGTGG TCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGT GGTGGTGGTGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGA TGGTGGTGATGATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGAT GGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGG TGGTTATGGTGGTGATGATGGTCATGGTGGTGATGATGGTGATCATGGTG GTGATGGTGGTGATGGTGGCGATTGTGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0242 a0001c0002t0002g0242	1	364	0.0027	-877	c.732 others(17): Show c.732+2413_732+3289del		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
KIR3DL1_chr19_54811468_54835778	54833962	GAGCCTGG others(870): Show GAGCCTGGAGTGGAGATATGGCCCTGGAGTGGAGATATGGGCCTGGAGTG GAGATATGGGCCTGGAGTGGACATATGGGTCTGGAGTGGAGATACGGGCC TGGAGGTGGAGATATGGGCCTGGAGTGGAGATATGGGCCTGGAGGTGGTG ATATGGGCCTGGAGTGTAGACATGGGCCGAGTGGAGATATGGGTCTGGAG TGGAGATATGGGCCTGGAGTGGAGATATGGGACTGGAGTGGAGATATAGG CATGGGGTGGAGACATGGGCCGGGAGTGGAGATATGGGACTGGAGTGGAG ATACGGGCGTGGGGTGGAGATATGTGCCTGGAGGTGGAGATATGGGCGTG GGTTGGAGATATGGGCCTGGAGTGGAGATATGGGCGTGGGGTGGAGATAT GGATCTGGAGTGGAGACATGGGCATGGGGTGGAGATATGGGCCTGGTGTG TAGATATGGGCCTGGAGTGGAGATATGGCCCTGGAGTGGAGATATGGGCC TGGAGTGGAGATCTGGGCCTACGGTGGAGATATGGGCCTAGGATGGGGAT ATGGGCCTGGAATGGAGATATGGGCCTGGGTGTGGAGATATGGGACTGGA GTGGAGATATGGGCCTGATGTGGAGATATGGGCTTGGAGTGGAGATATGA TCCTGGAGTGTAGTTATGGGCCTGGAGGTGGAGATCTGGGCCTGGGGTGG AGATATGGGCCTGGAGTGGAGATATGGGACTGGAGAGGAGATATGGGACT GGAGTGGAGATATGGGCCTGGAGTGGAGATATGGGCCTGGATTGGAGATA TGGGCCGAGGGTGGAGATCTGAGCCTGGATTGGAGATGTGGGCCCGGATT GGCTATATGGGTCTAGGGTGGAAATATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02886.hp1 HG02965.hp1 HG03834.hp2 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0002 a0026 a0002 a0026	a0002c0003 a0002c0031 a0026c0030 a0002c0003 a0002c0031 a0026c0030	a0002c0003t0002 a0002c0031t0002 a0026c0030t0002 a0002c0003t0002 a0002c0031t0002 a0026c0030t0002	a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 others(12): Show a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0070 a0002c0003t0002g0073 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0082 a0002c0031t0002g0072 a0026c0030t0002g0074	62	394	0.1574	-877	c.36 others(11): Show c.3688_*4564del		KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding					3185		chr19	TogoVar
NEU4_chr2_241804193_241822413	241806530	CCACCCTC others(870): Show CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTC CCCCCTCACGCCAGGGACCCGGGAAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	318	0.0031	-877	c.-27 others(11): Show c.-2747_-1871del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2662		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806535	CTCCCCCC others(870): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCC TCACGCCAGGGACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01943.hp1 HG01943.hp2 others(4): Show HG00438.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02165.hp2 HG02572.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0009g0001 a0001c0002t0001g0002 a0001c0004t0001g0161	7	294	0.0238	-877	c.-27 others(11): Show c.-2742_-1866del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2657		chr2	TogoVar
NPAS1_chr19_47014837_47050775	47034103	AAGACCAG others(870): Show AAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTCTACTAAAAAACA AAAAATACAAAATTAGCCAGGCGTGGTGGCAGACACCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAAGATAATCACTTGAACCCAGGAAGTGGAGGGT ACAGTGAGCCGAGATCGTGGCATTGCACTCCAGCCTGGGCAACAAGAGCA AAACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGGCAGGAAGACCTACTGA AAGCCCCATCCTTGGAGCCCTGGCATCTCACAGCACCTTAAGCTTTGCCA GTCCCTCCAATACAAATTGCTATCAACTTTGATCATTTTTACAAATATTT TTCACAAATAGGAAATTTAGGAAATTCAGTGCATTGGCAACTTGTGAGTA CCTTTTCAGTGAGATTCCTGGAGGAGGAAGACACCAAAAGGAGGGGAATT TGGACAAGAGGACGGGAGGGAGGAAGAGTGGAGGAAAAGCTTGGCCAGGT GTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAAAAGCAGGCA GATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAAC CCAGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGCTGGCAGATGCCT ATAGTCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCACTTGAACCCAG GAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGG GCAACGAGAGCAAAACCCCATCTCAAAAACAAAACAAAACAAAAAAAGTC CAGGCGCGGTGGCTCATGCCCGTAAACCCAGCACTTTGGGAGGCTGAGGC GGGCAGATCACCTGAGGTCGGGAGTTTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0247	1	416	0.0024	-877	c.522 others(16): Show c.522+1406_523-950del		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50343993	TCCCCCAG others(870): Show TCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCT CCAGTCAGTTCCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCA GTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTC AGTTTCCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGC CTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCC CAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTC AGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCC CCTCCAGTCAATTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCC CAGTCAGTGCCCCCTTCAGTCAGTTCCCCCAGTCAGTGCCCCCTCCAGTC AGTTCCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGC CCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCCCCTC CAGTCAATTCCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCA GTGCCCCCTCCAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTC CCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCTA GTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCTCCTCCAGTC AGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCC CCCTCCAGTCAGTTCCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCC CCCAGTCAGTGCCCCCTCTAGTCAGTTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp1 NA20752.hp2 HG00738.hp1 HG01255.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0009 a0001c0001t0001 a0002c0007t0009	a0001c0001t0001g0226 a0001c0001t0001g0228 a0002c0007t0009g0227 a0001c0001t0001g0226 a0001c0001t0001g0228 a0002c0007t0009g0227	3	338	0.0089	-877	c.-14 others(18): Show c.-148+449_-148+1325del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
NPIPB12_chr16_29478534_29511408	29484237	CGGCAGGT others(869): Show CGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCAT CTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAA GGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACG CTCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGT GGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAG ATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTG TCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTG AGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAG CGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGG GTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTG AGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGG TGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAG TGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCGGCTGATGGTGGA AGCGGAATCCGCAGACGCTCAGCAGGTATCTTGATATTATCATCTGCTGA GAGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCT TGAGATTATCATCCGCTGAGGGTGGAA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18982.hp1 NA18982.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0012 a0004c0010t0001g0012	1	20	0.0500	-876	c.136 others(9): Show c.1363_2238del	p.Phe others(13): Show p.Phe455_Ala746del	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2901/3605	1363/2787	455/928			chr16	TogoVar
NT5M_chr17_17298373_17352663	17327060	CGCCACCA others(869): Show CGCCACCACACCCGGCTAATTTTTTTTTGTATTTTTAGTAGAAACAGGGT TTCATCATGTTGGCCAGGCTGGTCTCTAGCTCCTGACCTCGTGATCCACC CATCTTGTCCTCCCAGAGTGCTAGGATTACAGGTGAGCCACCACACCCAG CCCTCGTTTTTCTTTGATGCGTATTAAATATAATACATGTATTTTAACAA AGCTTTCATCCAACATAGTTATCCTTTTCTGCTTATTAATATATTTTTAG CCTTTTTTCTGTCATCAAACACTTCAGAAACATGATTTTTTTTTTTTTTT GTGAGACAGGGTCCAGCTCTGTGGCCCAGACTGAAGTGCAGTGACACGAT CTTGGCTCACTGCAACCTCTGCCTCCTGAGTTTAAGTGATTCTCATGCCT CAGCCTCCCAAGCAGCTGGGACAAGTGTGTGTCACCATGCCTGGCTAATT TTTTATATTTTTGTTCTGTTTTGTTTGAGACAGAGTCCTGCTCTGTCACC CAAGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCACCTCC TGGGTTCAAGTGATTATCCTGCCCCAGCCTCCTAAGTAGCTGGGATTACA GGTGCGTGCCACCATGACCAGCTAATTTTTGTATTTTTAGTAGAGACGGG GTTTCGCTATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCA CCTGCCTCGGTCTCCCAAATGCTGGGATTACAGGCGTGAGCCACCACGCC CGGCCAATTTTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGC CAGGCTGGTCTCAAACTCCTAGCCTCAAAGTAGTCTGCCCATCTCGGTCT CCCGAAGTGCTGGGATTACAGGTGTGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(200): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(186): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0007g0131 a0001c0001t0009g0296 a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0059 a0001c0002t0001g0066 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0188 a0001c0002t0001g0206 a0001c0002t0001g0213 a0001c0002t0001g0217 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0233 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0294 a0001c0002t0002g0312 a0002c0003t0001g0019 a0004c0004t0001g0276	203	345	0.5884	-876	c.429 others(17): Show c.429+3823_429+4698del		NT5M	ENSG00000205309.14	transcript	ENST00000389022.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr17	TogoVar
PPP6R2_chr22_50338327_50450090	50343871	CCCCCAGT others(869): Show CCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCCCCT CCAGTCAGTTTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAG TCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAG TTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGCC CCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCC CCAGTCAGTGCCCCCTCTAGTCAGTTTCCCCCCAGTCAGTGCCTCCTCCA GTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGT GCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCC CCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGT CAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTGC CCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGCCCCCTTCAGTCAGTTCCC CCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCCCCCCAG TCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAAT TCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCTCC TCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCAGT CAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGC CCCCTCCAGTCAATTCCCCCTAGTCAGTGCCCCCTCCAGTCAGTTCCCCC CCAGTCAGTGCCTCCTCCAGTCAGTTT	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	326	0.0031	-876	c.-14 others(18): Show c.-148+326_-148+1201del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
ZNF814_chr19_57864381_57894037	57878996	GCACTCAG others(869): Show GCACTCAGGCCATTTGTGGTTATACCAATATGACCAGGCATCCAGGTGGC AAATCACACTGGGCCTTAATTTTTGGCCTTACACTACATCGTAGCTGACA CCATCCAGAGTGTATGGCCCATTCAAACCGATCCAATATTACCACAGAAC TGCAATTCTATTGGATCCTAAAAGGAGCGGTGGTCTCAAGTAATTCTGTG AGGACCTCCTTGCATGGCTCCACAGAAACACAGAACCATGTGTGGCTTCA GCTATCCATGACCCTATTCCACTTCTGTGCTACACTTGCCAGCCCCTCAG CAATGATGACCTTTCCCTCAATTACTTCTGTACTTCTGCCTGCATCTCAT CTCTATTATCTCCATGGAAGTCTGCCCCACGACAAGCTATGCCCTCTGAT ACACCCTACATTCATTGTCACTTACCTCCCTCTCCTGTGTGAATGCATAA CACAGGTTATGAATGCCAATAATGTCCGCCAGGGACCCAGGCAAAACATC TAGTCCTCAGCCTCCAACCAGTCCTTTCTGGTTCCCTAAAAGATTTACTA CCTTATTATGAAGTGTGCCCTCCAAAATGGGACCCATGGCTAACGCACCT TAGTCCACACATTAGCTATCATATACTGGATGTCTCCAATATCAATTCCT TCCCAGATATCCCGACCTATGTGGACAAGCATCTCAGGGTCTGAGCATGG TGAAAACAACCCTCCTTATATTCCCAGTGACTATATTATGCCTACTCCCA ACTTGCTCATCTCAGCTGATACAGCTTCTATCACTGCTGCTGCTAAGGCC AAAAACCCTAGGGTTGCCAGGCACGGTGGCTCGAGTCTGTAATCCCAGCA CTTTGGAAGGCTGAGGTGGGTGGATCA	G G	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19072.hp1 NA18984.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	2	432	0.0046	-876	c.37- others(15): Show c.37-2830_37-1955del		ZNF814	ENSG00000204514.11	transcript	ENST00000435989.7	protein_coding	1/2						chr19	TogoVar
DACT2_chr6_168301904_168324777	168316238	CCAGCATC others(868): Show CCAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGC TGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGC AAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGTGTAACAC GTCTGTGGCTGTCGTGTGCTGAGCTGAGGGCACGCAGAAGCTGCGATTGT GTCTGGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATCA CGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGG TCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCG GCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCT GAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAAC AGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTG TCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAA ACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGT CTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGT CTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGT GTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTG CGATTGTGTCTGGTGCAAACACACAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0008 a0006c0014t0008	a0006c0014t0008g0300 a0006c0014t0008g0300	1	429	0.0023	-875	c.246 others(17): Show c.246+2275_246+3149del		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3						chr6	TogoVar
DTNBP1_chr6_15517807_15668028	15666501	AGAGCATA others(868): Show AGAGCATATTAGTTGCGCCCAGGAAAAGCTTTGGTGATACAACGTTTGGG GTGAGCACCAAAGCTGCTAAGAAGTTTCCTGAAATAGTGCTTCCCTGACC AGCAGCAGCCGCATCATCTGGGAGCTTCCTGCAAAGGTAGAATCGTAGGC CCCAGCCAGCCCTACTGAATCAGAATCTGAGTTTTATTAAGACCCCCCGG GTGATTTTTATTCATGTTAACATTTGAGAAGCCCTACTCGTTGATGAAAG GGGGTTTCCTGTCTCAGCAGATTCTTATTGGAGACAAAGTGATAAATGAG GATTTGGCGGAGTTAGAACCAAAGAGAAAGATGCTATTAAAGAAGGGGTG GTACGAAAGAAACCACCATCAGAGCGAACAGGCAACCTACAGAATGGGAG AAAATTTTTGCAATCTACTCATCGGACAAAGGGCTAATATCCAGAATCTA CAATGAACTCAAACAAATTTACAAGAAAAAAACAACCCCATCAACAAGTG GGCAAAGGATGTGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCA AAAGACACATGAAAAAATGCTCATCATCGCTGACCATCAGAGAAATGCAA ATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCGATCAC TAAAAAGTCAGGAAACAACAGGTGCTGGAGAGAATGTGGAGAAATAGGAA CACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAG TCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCC AGCCATCCCATTACTGGGTATATACCCAAAGGACTGTAAATCATGCTGCT ATAAAGACACATGAACACATATGTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01099.hp2 others(46): Show HG00639.hp1 HG00735.hp1 HG01099.hp2 HG01109.hp2 HG01192.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19030.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 a0001c0001t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0228 others(46): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0272 a0001c0001t0002g0277 a0004c0004t0001g0236 a0004c0004t0001g0250 a0004c0004t0001g0286	49	312	0.1571	-875	c.-45 others(11): Show c.-4507_-3633del		DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding					3474		chr6	TogoVar
GOLPH3_chr5_32119716_32179319	32155098	CAAAAAAA others(868): Show CAAAAAAAAAAAAAAATTAACGTTCTAAAATGTATTATGGTGATGGATAC ACAACTCTAAATACACTAAAAGTCACTGCATTGTTACCTTTTACTTTGTT TTTTTAAAGACAGGGTTTCATTCTGTCACCCAGGCTAGAGTGCAGTGGCT TGATCATAGCTCACTGCAACCTTGAACTGCTGGGCTGAAATGATCTGCCC ACCTCAGCCTCCTGAGTAGCTGAGACTATAAGCAGGCACCAGCACACTCG GCTTTTTATTTTTATTTTTTTAGCAATGGGATCTCACTACGTTGTCCAGG CTAGTCTCAAATTCCTGGCTTTAAGCAATCCTCCTGCCTTGGTCTCCTCC AAAGTGCTAGGATTACAGGCATGTAATCCTGGATTGTACTGTTTAAATAA GTGAATTGTCAATTAAATCTCAATAAAGCTGTTACCAAAAAAACTAAGCC AAAAACTCCCCTTAAGCATTTCAAATGACTAAAGAAAGCCCTCAGCTTTC TGATTTTTTTAATTAGCAAAAGAGTAAGGCTATAGACTACATGTTTGTGT CCCCCCAAAACTCTCATGTTAAGATTCTAGCCGGAAGCGGTGGCTCATGC CTATAATCTCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTC GGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAA AAATATAAAATTAGTGGGGCATGGTGGCGCATGCCTGTAATCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTGC CGTGAACCAACATTGAGCCACTGCACTCCAGCCGGGCAACAAGAGTGAAA CACTGTCTCAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	99	0.0101	-875	c.226 others(19): Show c.226-12093_226-11219del		GOLPH3	ENSG00000113384.14	transcript	ENST00000265070.7	protein_coding	1/3						chr5	TogoVar
NHSL1_chr6_138417043_138504494	138439751	GTCTCGTG others(868): Show GTCTCGTGTCTGGCAACAGTCACAACCCAGATGATGCGGGGAAAGCTATT TTCTTCCCTCCAGCATTAGTGACGTTCCATGTCACATGTAAAAGAAATGA ACGTGGATTCCAGAGATTTTAATCACTGATTTAAAAAATACTAAAATTAC AAAAGATATGATTTATCTAGCTGGCCAGAACATTCTAGTAAGATCAAAGA AACAACTGAGTTATTGGCTTCCATACTGGTTGGTTCAGTAATAAAAGTGA TAAAAATTTGTAACTCTCATTCTAGACATCATATTACATATGCATACAGA CAATGCATATGGAATACTTATGTGTATGTGCATCTTTACTTGGGCCACAC TATCCTTCTGATCTTACAAAGGGCCTAAATGCCTGTCTTTAAAGTCACTC CTTGAAGTCACATCTCCTAAAAAGACCAGTTAAAGTATAAATGTTGCTGG AATGCTTTAGGAAATTACTCCATTAACTATCTACTGAACATATGAGTACA GATTAGTTTCCGAATTAGTTAGCTGTCACTTCAAGAATGGAAAAAAGAGT CTGAAAGAATAAGGCATAAACTGAGAGGAGAGAGAGAAAGCACACATGTT TCCTTAAGGTAGGTTGAGGGAAGGTGCCTGGAGACCTCAGGTAGCCACAG AGGAACCAGGCCACTAATAGCAGCAGCATGTGGGGCACGAACCAAAGACA GACTTCACAATCCCACGGGAGCTGCTGCAGTCTTGCCTTTGTTTGTAATA AACCAATCCATGATAGAACAGGGCAAACACCTGTATACCATCTGGGTCAC TGTGGCTGCCTGCGGCAAAGGCAGAGCATTGCTATTCTCACCTGACTATT GCTACAGCATGGAAGGCAGAGCATAT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0006 a0006	a0006c0038 a0006c0038	a0006c0038t0050 a0006c0038t0050	a0006c0038t0050g0122 a0006c0038t0050g0122	1	330	0.0030	-875	c.664 others(17): Show c.664+1357_664+2231del		NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	5/7						chr6	TogoVar
NOC4L_chr12_132139457_132157468	132149666	TACCACAC others(868): Show TACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	184	0.0054	-875	c.901 others(15): Show c.901+801_902-411del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149754	CACCACAC others(868): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0094 a0002c0002t0004g0094	1	241	0.0041	-875	c.901 others(15): Show c.901+903_902-309del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
PCDH9_chr13_66297834_67235336	66411269	GTTATAGA others(868): Show GTTATAGAAAATTTTCTGTAATGCAGACTATTGTAATTTTGAAGATTTTG AAGAGTTGTCCAGGCTGGAGTGCAGTAATGTGATCACAGCTCACTGCAGC CTCAGCCTCCTGGGCTCAAGCAACTCTCCCACCTCTGCCTTCTAAGCAGC TGGGACTACAGGTGCATCCCACCACATCCAGCTAATTAATTTTTTTTCTT TTAGATATGGGGTCTCACAATATTTCCCAGCCTGGTCTTAAACTCTTGGG ACTCAGTGATCCTCTTGCCTCAGCCTCCCAAATTACTGAAATTAAATTAT CTCACCCAGCCTTAAGAATTGTAATTTTGAAGATGTTTAAATTTGATCAC TGAAGATAGACAGATATATAGATGATGGATAGATAGATAGATAGATAGAT AGATAGACAGATGGATAGATAGATACCCTAAAATAAATACCTTGGAGGCA GTAAGACAAATTTGATATGTTGCATATAAAAATGGATTTATATTGTAAAA TGTTTACAACTTTTACTATGTAAAGTCAACCTCACCTGAAGGTTTATATG TCAATGTTGATCTAGACAGCTACTTATGAATGTACCAAAGAATATCAAAA TCCAACATTATTCACTAGAATGGGGGGCTGCTCCCATAGAAATGGAGATA GCATTCTGCAAACTGTTTTCAAGCCACTCAAAACTATTTTCAAGTAACTG TTCCTTTAGAAACCACAAACAAATTCTAATGATCTACATTGGGAACATAA GAACATATATCAACTAATTACCTGCTGTTGACCTTTTCATGGGAGAAGAC ACATATAAAACTGTCAAACCTAGCTTGAAAGCAGATATTAATGTTTGGGA CTTCATAAAACTCTGAGTTTTGAATA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03239.hp1 HG02738.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0066 a0001c0001t0003g0056 a0001c0001t0001g0066 a0001c0001t0003g0056	2	80	0.0250	-875	c.334 others(23): Show c.3341-107116_3341-106242del		PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	4/4						chr13	TogoVar
STXBP3_chr1_108741674_108814523	108806064	ATGTCATT others(868): Show ATGTCATTTACACATTAATATATTTGTTTATAAATGAATGTTTATTTTGA AATATTTACTTTTCAAATAAAAGCTAAAAATTTTTACCAGTGGAGCTTGT GAACAAAAAAAGTAATTCCTATGCTCTAGAGCAGTGCTAGCCAATAGAAC TTTCTGCAGTGATAGAAAGGTTCTATATTGGCACTGTCCAGTATGACAGC CACTAGCTACATGTGGCTTTTGGGTACTGGATATGTGGCTAAGTATGGAT GAAGAACTGAATTTCTTATTTCATTTAATTTCAACTAATTTAAATTTAAA TAGCCTCATGTGGCTAGTGGCTACTATATGGGATTCTGGGGATCTAGAGC AATCTGGAGGAGGAATGGTAAAAGTAATGACTACTATTTATTGAGTACTT ACCCAACACCAGATTCTGTACTTAGTGTGTTCTGTACATTGTTTCATTTC ATCCTTGTAACAGCCTTTGAGGTTTAGAGAGAAGTTAAGTAATTTTCTGA AAGTCATACTGAATCAAAAACAAGCAGAATAAAAATCGAAACACAGGTCT AATTCTTAACAGCCAACCTCCTACCATCGTAGGTTCCTGAATTCCATTCC ATCAAGGAACAACCTAATACTATATCAGCTCCAAAGTATTACTTGCCCCT TTCCCCTTCACATCTTCAAAACCTTTTTCAGTGCCACTCTCTAATTTTTT TTTAATTTCAAGAAGCTGCAGACTTCTCAGGTATATTATTTCTTCTTATG AAATAATAAGGGAGGTTGTTAGCTCTACTCTATATGTTAAAATGCCAAGC CAGATTATGCATGATTTGTTAGAATTGTTTTTGAAATGTGGCTGTCCTGC TTAAGTCTTGGTTAGTCATACTATGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	332	0.0030	-875	c.153 others(18): Show c.1536-1335_1536-461del		STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129855634	GAACGGGA others(868): Show GAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTTACGGAGTC CGGGGGAACGGGATGGCTGCCCTTGTAACGGAGTCCGGGGGAACGGGATG GGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACA GAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACG GGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTG TAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGG GAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTC CGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATG GGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACG GAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACG GGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTG TAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGG GAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTC CGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATG GGTGCCCTTGTAACAGAGTCCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01433.hp2 others(7): Show HG01074.hp2 HG01167.hp1 HG01433.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG03017.hp1 HG03927.hp2 NA18522.hp1 NA20752.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0009	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0003c0005 a0006c0015 a0009c0009	a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0001c0004t0001 a0001c0006t0002 a0001c0007t0004 a0003c0005t0023 a0006c0015t0024 a0009c0009t0002	a0001c0001t0002g0008 a0001c0001t0002g0078 a0001c0001t0003g0055 others(7): Show a0001c0001t0002g0008 a0001c0001t0002g0078 a0001c0001t0003g0055 a0001c0002t0004g0029 a0001c0004t0001g0061 a0001c0006t0002g0076 a0001c0007t0004g0075 a0003c0005t0023g0088 a0006c0015t0024g0087 a0009c0009t0002g0080	10	91	0.1099	-875	c.79+ others(17): Show c.79+46752_79+47626del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
DLGAP2_chr8_732628_1713476	1400438	TGCCACCT others(867): Show TGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTC ATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCA AAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCGGAGTCGTGTATT GAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTG CCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGT CCTCCGGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCACTCCCTCCTTGTCCTCCGGA GTCGTATATTGAGTGCTTACTGAGC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	40	0.0250	-874	c.107 others(20): Show c.107-100833_107-99960del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
EHMT1_chr9_137614005_137841127	137818563	GTGTACCG others(867): Show GTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAG ACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGACTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGG CGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCG AGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGA GGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGG GGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA GGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTA GAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCG TAGAGAGGCCGACTGAGGGGCGCCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp2 HG02922.hp1 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0001 a0001c0009t0001 a0001c0005t0001 a0001c0009t0001	a0001c0005t0001g0128 a0001c0009t0001g0170 a0001c0005t0001g0128 a0001c0009t0001g0170	2	167	0.0120	-874	c.354 others(18): Show c.3540+451_3540+1324del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
FOXN3_chr14_89151177_89422233	89361325	CACCTCCA others(867): Show CACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCAGCA CCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCC ACCACCACCTCCTACCACTACCACCTCCAGCACCACCTCCACCACCACCA CCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCACCACC ACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCAC CACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCA CCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCC ACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCTC CACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCA CCTCCAGCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACC ACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTC CAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCA CCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACC ACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCAC TACCACCTCCAGCACCACCACCTCCACCACCACCTCCACCACTACCACCT CCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACC TCCACCACTACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCAC CACCTCCACCACCACCTCCACCACT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0211 a0001c0001t0047g0211	1	221	0.0045	-874	c.544 others(19): Show c.544-11391_544-10518del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
ORAI2_chr7_102428575_102461825	102441269	TGGTGGCT others(867): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAG ATCACCTGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGACACCCC GTCTCTACTAAAAATACAAAAATTAGCTGGACGTGGCGGCAGATGCCTGT AATCCCAGCTACTCCAGAGGCTGAGACGGAGAATTGCTTGAACCCGGGAG GCGGAGGTTGCACTGAGCCGAGATTGCATCACTGCACTCCAGCCTGGGCC ATAGAGCGAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAAAAAAAACCA GAGGTGGCTCTTGCTATGTTGCCCAGGCTGGTTTTTTTTTTCTTTAATTA TTGTTATTTTTTTCTTCACCTTATACCAAGGGAGAAATATTGTTGTTTCA TTTTGTTTTTTTCCCCCAAGTATTTTTGACCTGCGGTTGGTTGAATCTGC AGATGTGGAACTCATAGATACAGAGCACCAGCTGCAGTGGGAAGCAAGTG AACCATCTGGCGTGGAGCTGAGCCTTGGGGGAGCCGCAGTGCACCTGCTT GATTAGATTAGCATAGCGCCATCCGGTCAGATCGTTCTTCACACTGCAGG GCAGCCTGGGAAAAATAAGTGACAAATACAAATCATCAGAAACTGTAGCT GAGTCGGGGCAGGGCCCTGGGAACAGGCAAAGGTACAGATTGCTGGGTAG AGTTCGCCCTTTATAGTGTGTCTTCCCTCATTAGAATTGCAAAGCTGTTC CTTTGTCTAGCAACACGTGCTTATGCCTAACCTGAAGCTTAGTTCTTGAT GCGTATTCTTCCCCCAACACAGAGAACCAGTGATCCAAGGCCCCACCTCA TAAAACCTCTGCATAGGCCAGGCGG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0048 a0002c0005t0049 a0002c0005t0048 a0002c0005t0049	a0002c0005t0048g0025 a0002c0005t0049g0025 a0002c0005t0048g0025 a0002c0005t0049g0025	2	402	0.0050	-874	c.225 others(17): Show c.225+2136_225+3009del		ORAI2	ENSG00000160991.17	transcript	ENST00000495936.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2121985	CACGGCGG others(867): Show CACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTAGTTAGGT TCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGG GTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAG GGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTG TGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTG GCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGC GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGG TGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTG GTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCAT GGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTG TGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTT GTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGT GGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTTGTGGTGGTTAGGGTT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18948.hp2 NA18993.hp2 others(2): Show NA18942.hp1 NA18948.hp2 NA18993.hp2 NA19011.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0001 a0001c0007t0001 a0001c0004t0001 a0001c0007t0001	a0001c0004t0001g0008 a0001c0004t0001g0009 a0001c0004t0001g0011 others(2): Show a0001c0004t0001g0008 a0001c0004t0001g0009 a0001c0004t0001g0011 a0001c0004t0001g0056 a0001c0007t0001g0116	5	277	0.0181	-874	c.335 others(19): Show c.335-13276_335-12403del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129104799	TCATCACT others(867): Show TCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCA TCTTACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGT GCTGAAGAGGATGTGGAGAAATAGGAACAGTTTTACACTGTTGGTGGGAC TGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGA TCTAGAACTGGAAATACTATTTGACCCAGCCATCCCATTACTGGGTATAT ACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATG TTTATTGCAGCATTATTCACGATAGCAAAGACTTGGAACCAACCCAAATG TCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGG AATACTATGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGTAGGGACA TGGATGAAATTGGAAATCATCATTCTCAGTAAACTATCGTAAGAACAAAA AACCAAACACCGCATATTCTCACTCACAGGTGGGAATTGAACAATGAGAA CACATGGACAAAGGAAGGGGAACATCACACTCTGGGGACCGTTGTGGGGT GGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGA CGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAAC TAACCTGCACAATGTGCACATGTACCCTAATACTTAAAGTATAATAATAA TAAAAAAAAAGAAAAAAAAAAGAAAAAAACAAACAACCCCATCAAAAAGT GGCCGAAGGACATGAACAGACAATCCTCAAAGGAAGACATTTATGCAGCC AAAAAACACATGAAAAAATTCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 HG03579.hp2 HG02647.hp2 HG03139.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0014 a0002c0003 a0001c0002 a0001c0014 a0002c0003	a0001c0002t0001 a0001c0014t0001 a0002c0003t0001 a0001c0002t0001 a0001c0014t0001 a0002c0003t0001	a0001c0002t0001g0012 a0001c0014t0001g0063 a0002c0003t0001g0056 a0001c0002t0001g0012 a0001c0014t0001g0063 a0002c0003t0001g0056	3	92	0.0326	-874	c.144 others(21): Show c.1444-20971_1444-20098del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8						chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129105093	CGTATGTT others(867): Show CGTATGTTTATTGCAGCATTATTCACGATAGCAAAGACTTGGAACCAACC CAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACA CCATGGAATACTATGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGTA GGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATCGTAAGA ACAAAAAACCAAACACCGCATATTCTCACTCACAGGTGGGAATTGAACAA TGAGAACACATGGACAAAGGAAGGGGAACATCACACTCTGGGGACCGTTG TGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCT AGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATA TGTAACTAACCTGCACAATGTGCACATGTACCCTAATACTTAAAGTATAA TAATAATAAAAAAAAAGAAAAAAAAAAGAAAAAAACAAACAACCCCATCA AAAAGTGGCCGAAGGACATGAACAGACAATCCTCAAAGGAAGACATTTAT GCAGCCAAAAAACACATGAAAAAATTCTCACCATCACTGGCCATCAGAGA AATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGGATGG CAATCATTAAAAAGTCAGGAAACGACAGGTGCTGGAGAGGATGTGGAGAA ATAGGAACAGTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATT GTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCAT TTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCA TGCTGCTATAAAGACACATGCACAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02809.hp1 HG01891.hp1 HG02145.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0004 a0001c0001t0003 a0001c0001t0006 a0001c0002t0004	a0001c0001t0003g0046 a0001c0001t0006g0068 a0001c0002t0004g0052 a0001c0001t0003g0046 a0001c0001t0006g0068 a0001c0002t0004g0052	3	92	0.0326	-874	c.144 others(21): Show c.1444-21265_1444-20392del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8						chr12	TogoVar
TMEM87B_chr2_112050269_112124314	112114104	AAAGATTC others(867): Show AAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAA CTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAG ATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTAC AGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCAT AACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAA AGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGACGTAGCATT ACAGAAAGATTCATAACTCTACAGAAAGACGTAGCATTACAGAAAGATTC ATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAG AAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCA TTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGAT TCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTAC AGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAG CATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAG ATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCT ACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGT AGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAA AGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACT CTACAGAAAGATGTAGCATTACAGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03540.hp2 NA18906.hp1 HG03225.hp2 HG03540.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0012 a0001c0001t0001 a0002c0002t0012	a0001c0001t0001g0020 a0001c0001t0001g0021 a0002c0002t0012g0279 a0001c0001t0001g0020 a0001c0001t0001g0021 a0002c0002t0012g0279	3	314	0.0096	-874	c.160 others(19): Show c.1608+1200_1609-1082del		TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
ZC3H3_chr8_143432659_143546447	143486846	GGCCCCAC others(867): Show GGCCCCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCC CCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCAC CACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCACC ACGAAGCTCACACACAGAACAGCACCCGCTACACGACCCCACCACCACGA AGCTCAGACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCT CAGACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGA CACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCACACACA GAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCACACACAGAAC AGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGACACACAACAGCA CCCGCTACACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCG CTACACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTAC ACGGCCCCACCACCACGAAGCTCACACACAGAACAGCACCCGCTACACGG CCCCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCC ATCACCACGAAGCTCACACACAGAACAGCACCCGCTACACGGCCCCATCA CCACGAAGCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACCAC GAAGCTCAGACACAGAACAGCACCCGCTACACGACCCCACCACCACGAAG CTCACACACAGAACAGCACCCGCTACACGACCCCATCACCACGAAGCTCA CACACAGAACAGCACCCGCTACACT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0148 a0008c0007t0001g0148	1	350	0.0029	-874	c.171 others(21): Show c.1716-12135_1716-11262del		ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11						chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143486980	ACACGGCC others(867): Show ACACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTACAC GACCCCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCC CCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCAC CACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCACCACC ACGAAGCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGA AGCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCT CAGACACACAACAGCACCCGCTACACGGCCCCATCACCACGAAGCTCACA CACAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGCTCACACACA GAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCACACACAGAAC AGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGACACAGAACAGCA CCCGCTACACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCG CTACACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTAC ACGGCCCCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGA CCCCACCACCACGAAGCTCACACACAGAACAGCACCCGCTACACGACCCC ATCACCACGAAGCTCACACACAGAACAGCACCCGCTACACTGCCCCATCA CCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCACCAC GAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCACCACGAAG CTCAGACACAGAACAGCACCCGCTC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0140 a0001c0047t0001g0140	1	350	0.0029	-874	c.171 others(21): Show c.1716-12269_1716-11396del		ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11						chr8	TogoVar
ARHGAP21_chr10_24578614_24728887	24656464	TGTGAAGT others(866): Show TGTGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCTCCGCCCAGCCAGCCGCCCCGTCTGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCTGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGAAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCAGGGAGGGAGGTGGGGGGGTCAGCCCCC GGCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCC CTCGCCCGGCCAGCCGCCCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02523.hp2 NA18747.hp1 others(3): Show HG02129.hp2 HG02523.hp2 NA18747.hp1 NA18989.hp1 NA19011.hp2 NA19056.hp2	a0006 a0020 a0006 a0020	a0006c0007 a0006c0029 a0020c0028 a0006c0007 a0006c0029 a0020c0028	a0006c0007t0006 a0006c0007t0015 a0006c0029t0006 others(1): Show a0006c0007t0006 a0006c0007t0015 a0006c0029t0006 a0020c0028t0006	a0006c0007t0006g0292 a0006c0007t0006g0293 a0006c0007t0006g0294 others(3): Show a0006c0007t0006g0292 a0006c0007t0006g0293 a0006c0007t0006g0294 a0006c0007t0015g0289 a0006c0029t0006g0291 a0020c0028t0006g0290	6	350	0.0171	-873	c.268 others(18): Show c.268+9648_268+10520del		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
DLGAP2_chr8_732628_1713476	1402543	GGAGTCGT others(866): Show GGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAG TCGTGTATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGTGCTTACTGAGC GCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCA CCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTC CTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCG TCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCT CCAGAGTCGTGAAGAGAGTGTAAAATCGCTGATCACTCCAGGTGGTGAAG GGTGGATGTGAAGTAAGGAGATTAAGGCGACTTACTCGTCGTCCTGCGTA GTGAAGAGATTGTAAAAAGAGGGCTACATCCAAGTCCTCATGCGTGGAGG ATGAATTGAGAAGATCCCCCCACCTCCTCGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTG CTTACTGAGCGCCACTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTAC TGAGCGCCACCTCCTTGTCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	38	0.0263	-873	c.107 others(19): Show c.107-98807_107-97935del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1402635	AGAGTCGT others(866): Show AGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGTGCT TACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGC GCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTC CTCATCCTCCAGAGTCGTGAAGAGAGTGTAAAATCGCTGATCACTCCAGG TGGTGAAGGGTGGATGTGAAGTAAGGAGATTAAGGCGACTTACTCGTCGT CCTGCGTAGTGAAGAGATTGTAAAAAGAGGGCTACATCCAAGTCCTCATG CGTGGAGGATGAATTGAGAAGATCCCCCCACCTCCTCGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGT ATTGAGTGCTTACTGAGCGCCACTCCTTGTCCTCCGGAGTCGTGTATTGA GTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGAGC TTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTAC TGAGCGCCACCTCCTTGTCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	40	0.0250	-873	c.107 others(19): Show c.107-98693_107-97821del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
PIP4K2A_chr10_22529854_22719578	22579766	GGGCATGG others(866): Show GGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATCGCCTGAACCCAGGAGGTAGAGGCTGCAGTGAGCCGAGAGTGT GCCACTGCACTCCAGCCTAGGTGATAGAACGAGACTTCGTCTGAGAAGAA AAAAAAGAAAAAAGAAAAAAGAAAAAAAAAGACAACCCATTCTGATGAAT GTGGAGATAAGGGAAACAAGACCTGCTCATGACTCAAGCAGGGCCAAGAT GCAGCCAAGGCCCCGAGGTGAGGGGTGGAGAGGGCAAAGGCAGGAAGGCG TGAGGGAGGGAGACTTCCAGGAGCACCTGATATGTGCCCCAAATGCTCTC AGAGACACGGGTTGTATCTTTAATGCATGACGGGGACTCCCAATTTCAAG GACTCTCCATAATTAATAATGCTGCAGTGTCTCTGTATTTATAAAGTGAG ATTAGTGTAAACGTAAAACACCAAAAAAAATATTTCTATCTTATGTTGCT TCTAGGATCACAACTGTGAGCACATTTTTCTTCAAAACTTAAATATCATA GACAAATTAACAAAATAACTTGTAAGCGAATGCTTCAAAAACAGCAAGAA GAGGCTGGGCATAGTGGCTCATGCCTGCAGTCCCGGTAATTCGGGAGGCC AAGGCGGGCGGATTACTTGAGCCCAGGAGTTTGAGATCAACCTGGCCAAC ATGGCGAAACTCCATCTCAACAAAAAGAAAATAAAAGAAAGACAGTGAGA AGAAGAGCATGTACTGGGGGTACCACAATGCCATGCTTTTAACAACCTAT TATTTGACCCGGTCATTCTCTTCTTTGTAAGAGTTTAAAGCATCCTATCT ATTACCCTTTTGTAAAACACTGTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG02965.hp2 others(2): Show HG02615.hp1 HG02723.hp1 HG02965.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0021 a0001c0005t0014 a0001c0005t0021	a0001c0005t0014g0079 a0001c0005t0014g0080 a0001c0005t0014g0081 others(2): Show a0001c0005t0014g0079 a0001c0005t0014g0080 a0001c0005t0014g0081 a0001c0005t0021g0082 a0001c0005t0021g0085	5	204	0.0245	-873	c.493 others(17): Show c.493-7182_493-6310del		PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	4/9						chr10	TogoVar
RNF150_chr4_140854807_141138469	140895858	GAATTTTT others(866): Show GAATTTTTTTTCTGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACA TTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATC AGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAG AATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTG GAGAAACAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAA CCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAAT ACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATA AATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTA TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAACAAAAAA ACAAACAAACAAACAAAAAAAAAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19030.hp1 HG02109.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0002c0002t0016 a0001c0001t0023 a0002c0002t0016	a0001c0001t0023g0010 a0002c0002t0016g0168 a0001c0001t0023g0010 a0002c0002t0016g0168	2	182	0.0110	-873	c.119 others(21): Show c.1198+14413_1198+15285del		RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	6/6						chr4	TogoVar
ZBTB8OS_chr1_32615820_32655550	32636448	CGGGAGGC others(866): Show CGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGATAGAGACCATCCT GGCCAACATGATGAAAGCTTGTCTCTACTAAAAACACAAAAACTTAGCTG GGCGTGGTGGCGCACACCTGTAAACCCATCTACTCAGGAGGCTGAGGCAG GAGAATAGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCCAAGATCGCG CCACTGCATTCCAGCCTGGGCAACAAGAGCAAAACTCAAAAAATGGAAAA AAAAAAAAAAGGTGGGGGGGAAGAAGAGGGTCAGGTCCCTAGGATGACCC TAACCCTCTGTCCGTCGTAGAAATGCCTGCCTGAGAAAGAGCATCATGGC CAGGAGAATATGTTTGTTCTAGCAAACACCTTATGTAGGCCCCCAAATTT CCTTTCTTAGAGCAGGTACTAAAAAGAGCTTACAAATGTGAATATCCATC TCTTACTACTTAGAAGTGTCTTTCTCTAAAACCCAAGAGCCATTCCATTG AAATGTAATCAACGGGAAGGATGGGCCTTTGTCTGTCTTCCAGCCTCTGT GGGAGGAAAGAATTCTAATTTCCACACTGTCAGCTGTCAGACACAGCTAG ACTAATCACATTTACACTGATCAACTCTTTGTACTTTTTCACTTCTCTGA CTCTACTAAGTCCCCCTCACTCCTCTCCCTTTAAAATGCCCAGTCATCCC CACACAAATCAGAATGGAGCTCAGCTCTTTTCCCACAGTAGTTATTAAAT AAAACCTGTTTTCACTGCTCTGAGTAACGTCGAGTTGTATTTACCTTTCA CACACGAGTGAAGAAGCCAGACATAAAAGAATCTGGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAACACTTG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0014 a0001c0002t0034g0014	1	312	0.0032	-873	c.98- others(15): Show c.98-2529_98-1657del		ZBTB8OS	ENSG00000176261.16	transcript	ENST00000468695.6	protein_coding	1/6						chr1	TogoVar
DHRSX_chrX_2214506_2505976	2279260	AGAGGGAG others(865): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAAGAGGAGGAAATGGGGGAGAGAGAAAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATG GGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGC AAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGA GAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0034 a0005c0006t0004g0034	1	48	0.0208	-872	c.388 others(19): Show c.388+11370_388+12241del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar

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