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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EXOC3L4_chr14_103089725_103115559	103109253	C C	CCTCCCTC others(283): Show CCTCCCTCCCTCTCCACCCTGCCCCCCATGTCTCCCTCCTCCCTCCCTCT CCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCG TGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTC CCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACC CTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCGTGTC TCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0003 a0003	a0003c0041 a0003c0041	a0003c0041t0002 a0003c0041t0002	a0003c0041t0002g0178 a0003c0041t0002g0178	1	397	0.0025	290	c.197 others(307): Show c.1976+737_1976+738insTCCCTCCCTCTCCACCCTGCCCCCCATG TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGTCCCCGTGTCTCCCTCCTCCCTCCCTCTCCACCCTG CCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCC CTCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCT CTCCACCCTGTCCCCGTGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
F13B_chr1_197033741_197072260	197042728	G G	GAAGAATC others(283): Show GAAGAATCTCTTGACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCAGGGGTAGTGGCGGGCGCCTGTAGTCC CCGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	142	0.0070	290	c.173 others(309): Show c.1739-1994_1739-1993insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCGGGGACTACAGGCGCCCGCCACTACCCCTGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GTCAAGAGATTCTT	F13B	ENSG00000143278.5	transcript	ENST00000367412.2	protein_coding	10/11			chr1	TogoVar
F13B_chr1_197033741_197072260	197042728	G G	GAAGAATC others(283): Show GAAGAATCTCTTGACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(88): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp2 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02071.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02523.hp1 HG02735.hp2 HG03017.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18988.hp1 NA18995.hp1 NA18995.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19011.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0007 a0007c0011 others(1): Show a0001c0001 a0001c0007 a0007c0011 a0009c0010	a0001c0001t0001 a0001c0007t0001 a0007c0011t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0007c0011t0001 a0009c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0058 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0007t0001g0079 a0007c0011t0001g0104 a0009c0010t0001g0082	91	232	0.3922	290	c.173 others(309): Show c.1739-1994_1739-1993insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GTCAAGAGATTCTT	F13B	ENSG00000143278.5	transcript	ENST00000367412.2	protein_coding	10/11			chr1	TogoVar
FAM120C_chrX_54063324_54188254	54117354	A A	AAAACTAA others(283): Show AAAACTAAACTAAACTAAACTGAACTAAACTAAACTAAACTAAACTAAAC TAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC TAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC TAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC TAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC TAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	26	0.0385	290	c.206 others(307): Show c.2063-561_2063-560insAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTCAGTTTAGT TTAGTTTAGTTT	FAM120C	ENSG00000184083.12	transcript	ENST00000375180.7	protein_coding	9/15			chrX	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(283): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19055.hp2 NA19002.hp2 NA19055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0166 a0001c0003t0001g0039 a0001c0003t0001g0166	2	261	0.0077	290	c.189 others(309): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXK2_chr17_82514732_82609602	82586451	G G	GGGGGGGA others(283): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGG AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0175 a0001c0001t0005g0175	1	264	0.0038	290	c.157 others(307): Show c.1576+257_1576+258insAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCCGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586453	G G	GGGGAAAG others(283): Show GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG AATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGGAGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0293 a0001c0001t0053g0293	1	289	0.0035	290	c.157 others(307): Show c.1576+256_1576+257insAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCAGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GALNT9_chr12_132191372_132334589	132235740	T T	TTCAACCC others(283): Show TTCAACCCTCGGGACAGGGCAGGAGGGTCCCCCGGGCTGGAGTTCAACCC TCGGGACAGGGCAGGAGGGTCCCCCGGGCTGGAGTTCAACCCTCGGGACA GGGCAGGAGGGTCCCCCGGGCTGGAGTTCAACCCTCGGGACAGGGCAGGA GGGTCCCCCGGGCTGGAGTTCAACCCTCGGGACAGGGCAGGAGGGTCCCC CGGGCTGGAGTTCAACCCTCGGGACAGGGCAGGAGGGTCCCCCGGGCTGG AGTTCAACCCTCGGGACAGGGCAGGAGGGTCCCCCGGGCTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03834.hp2 HG00733.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0040 a0002c0032 a0001c0040 a0002c0032	a0001c0040t0007 a0002c0032t0002 a0001c0040t0007 a0002c0032t0002	a0001c0040t0007g0002 a0002c0032t0002g0167 a0001c0040t0007g0002 a0002c0032t0002g0167	2	167	0.0120	290	c.107 others(311): Show c.1077+12169_1077+12170insCAGCCCGGGGGACCCTCCTGCCCT GTCCCGAGGGTTGAACTCCAGCCCGGGGGACCCTCCTGCCCTGTCCCGAG GGTTGAACTCCAGCCCGGGGGACCCTCCTGCCCTGTCCCGAGGGTTGAAC TCCAGCCCGGGGGACCCTCCTGCCCTGTCCCGAGGGTTGAACTCCAGCCC GGGGGACCCTCCTGCCCTGTCCCGAGGGTTGAACTCCAGCCCGGGGGACC CTCCTGCCCTGTCCCGAGGGTTGAACTCCAGCCCGGGGGACCCTCCTGCC CTGTCCCGAGGGTTGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GAP43_chr3_115618510_115726483	115698114	T T	TCTTATAT others(283): Show TCTTATATATAATATATAATATATATAAAATATATCTTATATATAATATA TAATATATATAAAATATATCTTATATATAATATATAATATATATAAAATA TATCTTATATATAATATATAATATATATAAAATATATCTTATATATAATA TATAATATATATAAAATATATATTATATATAATATATAATATATATAAAA TATATATTATATATAATATATAATATATATAAAATATATATTATATATAA TATATAATATATATAAAATATATATTATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	318	0.0031	290	c.628 others(309): Show c.628+21504_628+21505insCTTATATATAATATATAATATATATA AAATATATCTTATATATAATATATAATATATATAAAATATATCTTATATA TAATATATAATATATATAAAATATATCTTATATATAATATATAATATATA TAAAATATATCTTATATATAATATATAATATATATAAAATATATATTATA TATAATATATAATATATATAAAATATATATTATATATAATATATAATATA TATAAAATATATATTATATATAATATATAATATATATAAAATATATATTA TATATAATATATAA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GATA4_chr8_11699202_11765002	11761293	T T	TAACAGCG others(283): Show TAACAGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCAAGGTGAAACCCCGTCT CTACTAAAAATACAAAAAGTTAGCCGGGCGTAGTGGCGGGCGCCTGTGGT CCCAGCTACTCGGGGGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0088 a0001c0001t0045g0088	1	338	0.0030	290	c.28 others(301): Show c.2818_*2819insAACAGCGCTGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTAGTG GCGGGCGCCTGTGGTCCCAGCTACTCGGGGGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAC TCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAA	GATA4	ENSG00000136574.19	transcript	ENST00000532059.6	protein_coding		1292		chr8	TogoVar
GLB1L3_chr11_134271379_134324564	134308398	T T	TCACCATC others(283): Show TCACCATCATCACCATCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCACCAAATACCACCACCACCACCATGTCCACCACCACTA CCACCACCATCACCATCACCATCACCACCACCACCACCACCATCACCACC AAATACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCA TCACCATCACCACTACCACCACCACCAGCACCACCACCATCACCATCATC ACCATCACCACTACCACCACCACCACCACCACCACCATCAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	315	0.0032	290	c.961 others(307): Show c.961+1198_961+1199insTCACCATCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATG TCCACCACCACTACCACCACCATCACCATCACCATCACCACCACCACCAC CACCATCACCACCAAATACCACCACCACCACCATGTCCACCACCACTACC ACCACCATCACCATCACCATCACCACTACCACCACCACCAGCACCACCAC CATCACCATCATCACCATCACCACTACCACCACCACCACCACCACCACCA TCACCACCATCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGA others(283): Show GGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGA GGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGG GAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0164 a0001c0001t0058g0164	1	14	0.0714	290	c.229 others(309): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGG others(283): Show GGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGA GGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGG GAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0057 a0001c0001t0023g0057	1	14	0.0714	290	c.229 others(309): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCC CTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCT TCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCC CTCCCTTCCCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLRA2_chrX_14524536_14736812	14631915	C C	CATATGTA others(283): Show CATATGTATATGTATATATATAGACATACATATGTATATGTCTATATAGA CATACATATACGTATGTCTATATAGACATACATATACGTATGTCTATATA GACATACATATACGTATGTCTATATAGACATACATATATGTATGTCTATA TAGACATATATATCTATATATACACATATACGTATATATAGACATATACG TATATGTGTATATATAGACATATATGTATATGTGTATATATAGACATATA CGTATATGTGTATATATAGACATATATATGTATATGTGTAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0166 a0001c0001t0013g0166	1	2	0.5000	290	c.930 others(309): Show c.930+22728_930+22729insATAGACATACATATGTATATGTCTAT ATAGACATACATATACGTATGTCTATATAGACATACATATACGTATGTCT ATATAGACATACATATACGTATGTCTATATAGACATACATATATGTATGT CTATATAGACATATATATCTATATATACACATATACGTATATATAGACAT ATACGTATATGTGTATATATAGACATATATGTATATGTGTATATATAGAC ATATACGTATATGTGTATATATAGACATATATATGTATATGTGTATATAT GTATATGTATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14631915	C C	CATATGTA others(283): Show CATATGTATATGTATATATATAGACATACATATGTATATGTCTATATAGA CATACATATACGTATGTCTATATAGACATACGTATACGTATGTCTATATA GACATACATATACGTATGTCTATATAGACATACATATATGTATGTCTATA TAGACATATATATCTATATATACACATATACGTATATATAGACATATACG TATATGTGTATATATAGACATATATGTATATGTGTATATATAGACATATA CGTATATGTGTATATATAGACATATATATGTATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	2	0.5000	290	c.930 others(309): Show c.930+22728_930+22729insATAGACATACATATGTATATGTCTAT ATAGACATACATATACGTATGTCTATATAGACATACGTATACGTATGTCT ATATAGACATACATATACGTATGTCTATATAGACATACATATATGTATGT CTATATAGACATATATATCTATATATACACATATACGTATATATAGACAT ATACGTATATGTGTATATATAGACATATATGTATATGTGTATATATAGAC ATATACGTATATGTGTATATATAGACATATATATGTATATGTGTATATAT GTATATGTATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GNA13_chr17_65004289_65061740	65048321	C C	CCCATCTC others(283): Show CCCATCTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0138 a0001c0001t0015g0138	1	178	0.0056	290	c.510 others(307): Show c.510+5180_510+5181insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TAGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAGAGATGG	GNA13	ENSG00000120063.10	transcript	ENST00000439174.7	protein_coding	2/3			chr17	TogoVar
GRIN3A_chr9_101564352_101743647	101659560	A A	AAGTATCT others(283): Show AAGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTATTTATTTA TACATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTA TTTATTTATACATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTA TCTATGTATTTATTTATACATAGAAAGTATCTATGTATTTATTTATACAT AGAAAGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTATTTAT TTATATATAGAAAGTATCTATGTATTTATTTATACATAGAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0004 a0006c0004t0004	a0006c0004t0004g0129 a0006c0004t0004g0129	1	234	0.0043	290	c.235 others(311): Show c.2352+10499_2352+10500insGTCTATGTATAAATAAATACATAG ATACTTTCTATATATAAATAAATACATAGATACTTTCTATGTATAAATAA ATACATAGATACTTTCTATGTATAAATAAATACATAGATACTTTCTATGT ATAAATAAATACATAGATACTTTCTATGTATAAATAAATACATAGATACT TTCTATGTATAAATAAATACATAGATACTTTCTATGTATAAATAAATACA TAGATACTTTCTATGTATAAATAAATACATAGATACTTTCTATGTATAAA TAAATACATAGATACT	GRIN3A	ENSG00000198785.7	transcript	ENST00000361820.6	protein_coding	3/8			chr9	TogoVar
GTF2H5_chr6_158163350_158204344	158169680	T T	TGTATATT others(283): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATAATA TATTGTATATTATATATTATATAATATATTGTATATTATATATTATATAA TATATAATATACAATATATTATATAATATATAATATACAATATATTATAT AATATATAATATACAATATATTATATAATATATAATATACA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	298	0.0034	290	c.-34 others(305): Show c.-34-790_-34-789insGTATATTATATAATATATTGTATATTATAT AATATATTGTATATTGTATATTATATATAATATATTGTATATTATATATA ATATATTGTATATTATATATAATATATTGTATATTATATATTATATAATA TATTGTATATTATATAATATATTGTATATTATATATTATATAATATATTG TATATTATATATTATATAATATATAATATACAATATATTATATAATATAT AATATACAATATATTATATAATATATAATATACAATATATTATATAATAT ATAATATACA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169680	T T	TGTATATT others(283): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATTGTATATTATATAATATATTGTATATTATATATTATATAA TATATTGTATATTATATATTATATAATATATAATATACAATATATTATAT AATATATAATATACAATATATTATATAATATATAATATACA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	298	0.0034	290	c.-34 others(305): Show c.-34-790_-34-789insGTATATTATATAATATATTGTATATTATAT AATATATTGTATATTGTATATTATATATAATATATTGTATATTATATATA ATATATTGTATATTATATATAATATATTGTATATTATATATTATATAATA TATTGTATATTATATATTATATAATATATTGTATATTATATAATATATTG TATATTATATATTATATAATATATTGTATATTATATATTATATAATATAT AATATACAATATATTATATAATATATAATATACAATATATTATATAATAT ATAATATACA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169680	T T	TGTATATT others(283): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATTGTATATTATATATTATATAATATATTGTATATTATATAA TATATTGTATATTATATATTATATAATATATTGTATATTATATATTATAT AATATATAATATACAATATATTATATAATATATAATATACA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19082.hp2 NA18983.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0168 a0001c0001t0001g0169	2	299	0.0067	290	c.-34 others(305): Show c.-34-790_-34-789insGTATATTATATAATATATTGTATATTATAT AATATATTGTATATTGTATATTATATATAATATATTGTATATTATATATA ATATATTGTATATTATATATAATATATTGTATATTATATATTATATAATA TATTGTATATTATATATTATATAATATATTGTATATTATATATTATATAA TATATTGTATATTATATAATATATTGTATATTATATATTATATAATATAT TGTATATTATATATTATATAATATATAATATACAATATATTATATAATAT ATAATATACA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
HBQ1_chr16_175459_186179	186067	G G	GGGGAACA others(283): Show GGGGAACAGCGACACGGGGGGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGAGGAACAGCGGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	342	0.0029	290	c.49 others(301): Show c.4959_*4960insGGGAACAGCGACACGGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCG ACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGGACACGGGGGAGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGA CACGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4889		chr16	TogoVar
HIVEP1_chr6_12007312_12169999	12167581	C C	CATGTTAT others(283): Show CATGTTATATTACATGTATATATACATGTTATATTACATGTATATATACA TGTTATATTACATGTATATATACATGTTATATTACATGTATATATACATG TTATATTACATGTATATATACATGTTATATTACATGTATATATACATGTT ATATTACATGTATATATACATGTTATATTACATGTATATATACATGTTAT ATTACATGTATATATACATGTTATATTACATGTATATATACATGTTATAT TACATGTATATATACATGTTATATTACATGTATATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18969.hp1 NA18522.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0113 a0001c0001t0001g0119	2	5	0.4000	290	c.31 others(301): Show c.3120_*3121insATGTTATATTACATGTATATATACATGTTATATT ACATGTATATATACATGTTATATTACATGTATATATACATGTTATATTAC ATGTATATATACATGTTATATTACATGTATATATACATGTTATATTACAT GTATATATACATGTTATATTACATGTATATATACATGTTATATTACATGT ATATATACATGTTATATTACATGTATATATACATGTTATATTACATGTAT ATATACATGTTATATTACATGTATATATACATGTTATATTACATGTATAT ATACAT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2583		chr6	TogoVar
HS6ST1_chr2_128260480_128323868	128298069	T T	TAAGATGA others(283): Show TAAGATGAACATCGTCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0026 a0001c0001t0045g0026	1	273	0.0037	290	c.527 others(309): Show c.527+19967_527+19968insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG ACGATGTTCATCTT	HS6ST1	ENSG00000136720.7	transcript	ENST00000259241.7	protein_coding	1/1			chr2	TogoVar
HSPA12A_chr10_116666192_116747566	116732328	C C	CAAAAGAA others(283): Show CAAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	46	0.0217	290	c.40+ others(307): Show c.40+10101_40+10102insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTC TTTCTTTCTTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
ICA1_chr7_8108184_8267167	8152562	A A	ACCACCAC others(283): Show ACCACCACCACATCTCCTTCACCACCACTACCCCCAGCACTACCACCATC ACCTCTTCCACCACTACCATCATCTCCTCCACCACCACTACCACCACCAC CACCATCTCCTTCACCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTACCACCATCACCATCACCTCCACCACCACCACCATCTCCTT CACCACCACTACCCCCACCACTATCACCATCACCATCACCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	260	0.0038	290	c.804 others(307): Show c.804+4553_804+4554insAGGTGATGGTGATGGTGATAGTGGTGGG GGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGG TGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTG GTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGT GAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGATGGTAG TGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAG ATGTGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33323223	A A	ATATATAT others(283): Show ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATGGAATGTATATATGGAATGTATATATGGAATGTATAT ATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTG GAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATG TATATGTGGAATGTATATATGTGGAATGTATATGTGGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0120 a0001c0001t0022g0120	1	317	0.0032	290	c.-18 others(301): Show c.-1833_-1832insTATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATGGAATGTATATATGGAATGTAT ATATGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTG GAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATG TATATATGTGGAATGTATATGTGGAATGTATATATGTGGAATGTATATGT GGAATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1746		chr21	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(283): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATTATATGTAATATATAATATATAATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA19074.hp1 NA18942.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0037 a0001c0002t0004 a0001c0002t0037	a0001c0002t0004g0117 a0001c0002t0037g0001 a0001c0002t0004g0117 a0001c0002t0037g0001	2	5	0.4000	290	c.-36 others(301): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATAA TATAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATAT ATAATATAATATATAATATATAATACAATATATAATATAATATATAATAT AAAATATATAATATAATATATAATATATAATATAATATATAATGTATAAT ATATAATATAATATATAATGTATAATATATAATATATAATGTATAATATA TAATATATATTATATATTATATATATTATATGTAATATATAATATATAAT ATATAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATAATAT others(283): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATTATATGTAATATATAATATATAATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA19074.hp1 NA18942.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0100 a0001c0001t0001g0014 a0001c0001t0001g0100	2	3	0.6667	290	c.84 others(299): Show c.847_*848insATAATATATTTTATATATTATATATTATATATAATA TAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAATATATAATGTATAATAT ATAATATAATATATAATGTATAATATATAATATATAATGTATAATATATA ATATATATTATATATTATATATATTATATGTAATATATAATATATAATAT ATAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(283): Show CGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02257.hp1 HG02630.hp1 others(7): Show HG00741.hp1 HG02257.hp1 HG02630.hp1 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0003 a0001c0001t0009 a0001c0003t0002 others(3): Show a0001c0001t0003 a0001c0001t0009 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0009t0008	a0001c0001t0003g0198 a0001c0001t0009g0196 a0001c0001t0009g0197 others(7): Show a0001c0001t0003g0198 a0001c0001t0009g0196 a0001c0001t0009g0197 a0001c0003t0002g0086 a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0003g0192 a0001c0003t0003g0193 a0001c0003t0004g0195 a0001c0009t0008g0087	10	31	0.3226	290	c.117 others(309): Show c.117+14996_117+14997insCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGTGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQCA1_chr2_236319151_236512476	236357083	A A	ATATATTT others(283): Show ATATATTTTATATATTCGTATATTATATATCTATATTTTATATATTCGTA TATTATATATCTATATATTATATATTCGTATATTATATATCTATATATTA TGTATTCATATATATCTATATATTATATATATTCATATATATTATAAATT ATATTCATATAGTATATATCTATTATAAATGTATATCATATATTATATAT CTATATATTTATATATTCATATATTATATATCTATTTATATATTCATATA TTATATATCTATATATTTTATATATTCGTATATTATATATC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02886.hp2 HG02965.hp1 others(1): Show HG01358.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0111 a0001c0001t0001g0165 a0001c0001t0003g0027 others(1): Show a0001c0001t0001g0111 a0001c0001t0001g0165 a0001c0001t0003g0027 a0001c0001t0003g0028	4	187	0.0214	290	c.186 others(309): Show c.1869+6696_1869+6697insGATATATAATATACGAATATATAAAA TATATAGATATATAATATATGAATATATAAATAGATATATAATATATGAA TATATAAATATATAGATATATAATATATGATATACATTTATAATAGATAT ATACTATATGAATATAATTTATAATATATATGAATATATATAATATATAG ATATATATGAATACATAATATATAGATATATAATATACGAATATATAATA TATAGATATATAATATACGAATATATAAAATATAGATATATAATATACGA ATATATAAAATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
JPH2_chr20_44101590_44192188	44134139	A A	AATAAATA others(283): Show AATAAATATTTATTATAAATATATAAATATTTATTATAAATATATAAATA TTTATTATAAATATATAAATATTATAAATATATAAATATTTATTATAAAT ATATAAATATTTATTATAAATATATAAATATTTATTATAAATATATAAAT ATTTATTATAAATATATAAATATTTATTATAAATATATAAATATTTATTA TAAATATATAAATATTTATTATAAATATATAAATATTTATTATAAATATA TAAATATTTATTATAAATATATAAATATTTATTATAAATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0022 a0001c0007t0022	a0001c0007t0022g0080 a0001c0007t0022g0080	1	295	0.0034	290	c.117 others(311): Show c.1170-15517_1170-15516insATATTTATAATAAATATTTATATA TTTATAATAAATATTTATATATTTATAATAAATATTTATATATTTATAAT AAATATTTATATATTTATAATAAATATTTATATATTTATAATAAATATTT ATATATTTATAATAAATATTTATATATTTATAATAAATATTTATATATTT ATAATAAATATTTATATATTTATAATAAATATTTATATATTTATAATATT TATATATTTATAATAAATATTTATATATTTATAATAAATATTTATATATT TATAATAAATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNMB2_chr3_178531436_178849429	178757996	T T	TCCAAGAG others(283): Show TCCAAGAGGATATATATATATACACAAGAGGATATATATATATACACACA AGAGGATATATATATGTACACACAAGAGGATATATATATATATATATCCA AGAGGATATATATATATATATCCAAGAGGATATATATATATATATATCCA AGAGGATATATATATATATATATCCAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	87	0.0115	290	c.-67 others(309): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATACACAA GAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATCC AAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATAT ATATATCCAAGAGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758355	T T	TATATATA others(283): Show TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATCTATATATATCCAAGAGGATATATATATATATATATCCAAGAGGA TATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGGGGATATATATATATATATATCCAAGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	230	0.0043	290	c.-67 others(309): Show c.-67-48980_-67-48979insCCAAGAGGATATATATATATATATAT ATATCCAAGAGGATATATATCTATATATATCCAAGAGGATATATATATAT ATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGA GGATATATATATATATATATATCCAAGGGGATATATATATATATATATCC AAGGGGATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758709	G G	GATATATA others(283): Show GATATATATATATATATATCTCCAAGAGGAGATATATATATATATATATC TCCAAAAGGAGATATATATATATATATCTCCTCTAGGAGAGATATATATA TATATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTC CTCTAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATC TCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATA TCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18943.hp2 NA18988.hp1 others(1): Show HG00673.hp1 NA18943.hp2 NA18988.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0043 a0001c0001t0003g0158 a0001c0001t0003g0172 others(1): Show a0001c0001t0003g0043 a0001c0001t0003g0158 a0001c0001t0003g0172 a0001c0002t0001g0190	4	120	0.0333	290	c.-67 others(309): Show c.-67-48580_-67-48579insAAGGAGATATATATATATATATCTCC TCTAGGAGAGATATATATATATATATATATATCTCCAAGAGGAGATATAT ATATATATATATATATCTCCTCTAGGAGATATATATATATATCTCCAAGA GGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAA GAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCC AAGAGGAGATATATATATATATATATATCTCCAAGAGGAGATATATATAT ATATATATCTCCAA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758709	G G	GATATATA others(283): Show GATATATATATATATATATCTCCAAGAGGAGATATATATATATATATCTC TCCAAAAGGAGATATATATATATATATCTCCTCTAGGAGAGATATATATA TATATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTC CTCTAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATC TCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATA TCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	117	0.0085	290	c.-67 others(309): Show c.-67-48588_-67-48587insCTCTCCAAAAGGAGATATATATATAT ATATCTCCTCTAGGAGAGATATATATATATATATATATATCTCCAAGAGG AGATATATATATATATATATATATCTCCTCTAGGAGATATATATATATAT CTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATAT ATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATAT ATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGAGAT ATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM4B_chr19_4964113_5158598	5076217	C C	CATCCTTT others(283): Show CATCCTTTCCCCAGGGTCGTGCTCTCTCGTTGAATGAGTGATGAGAGCGG CCACACTGCGTCCTTTCCCCAGGGTTGTGCTCTCTCGTTGACCGAGTGAC GAGAGCGGCCACACTGCATCCTTTCCCCAGGGTCGTGCTCTCTCGTTGAA TGAGTGATGAGAGCGGCCACACTGCGTCCTTTCCCCAGGGTCGTGCTCTC TCGTTGACTGAGTGACGAGAGCGGCCACACTGCATCCTTTCCCCAGGGTC GTGCTCTCTCGTTGACTGAGTGATGAGAGCGGCCACCCTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0193 a0002c0003t0004g0193	1	268	0.0037	290	c.677 others(307): Show c.677-1150_677-1149insATCCTTTCCCCAGGGTCGTGCTCTCTCG TTGAATGAGTGATGAGAGCGGCCACACTGCGTCCTTTCCCCAGGGTTGTG CTCTCTCGTTGACCGAGTGACGAGAGCGGCCACACTGCATCCTTTCCCCA GGGTCGTGCTCTCTCGTTGAATGAGTGATGAGAGCGGCCACACTGCGTCC TTTCCCCAGGGTCGTGCTCTCTCGTTGACTGAGTGACGAGAGCGGCCACA CTGCATCCTTTCCCCAGGGTCGTGCTCTCTCGTTGACTGAGTGATGAGAG CGGCCACCCTGT	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	7/22			chr19	TogoVar
KDM4B_chr19_4964113_5158598	5076548	T T	TGAGAGCG others(283): Show TGAGAGCGGCCACCCTGTGTCCTTTCCCCAGGGTCGTGCTCTCTCGTTGA CCGAGTGACGAGAGCGGCCACACTGCGTCCTTTCCCCAGGGTCGTGCTCT CTCGTTGACTGAGTGACGAGAGCGGCCACACTGCGTCCTTTCCCCAGGGT CGTGCTCTCTCGTTGACCGAGTGACGAGAGCGGCCACACTGCATCCTTTC CCCAGGGTCGTGCTCTCTCGTTGACCGAGTGACGAGAGCGGCCACACTGC GTCCTTTCCCCAGGGTCGTGCTCTCTCGTTGACTGAGTGAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0004 a0003c0008t0004	a0003c0008t0004g0059 a0003c0008t0004g0059	1	147	0.0068	290	c.677 others(305): Show c.677-807_677-806insCCTGTGTCCTTTCCCCAGGGTCGTGCTCTC TCGTTGACCGAGTGACGAGAGCGGCCACACTGCGTCCTTTCCCCAGGGTC GTGCTCTCTCGTTGACTGAGTGACGAGAGCGGCCACACTGCGTCCTTTCC CCAGGGTCGTGCTCTCTCGTTGACCGAGTGACGAGAGCGGCCACACTGCA TCCTTTCCCCAGGGTCGTGCTCTCTCGTTGACCGAGTGACGAGAGCGGCC ACACTGCGTCCTTTCCCCAGGGTCGTGCTCTCTCGTTGACTGAGTGACGA GAGCGGCCAC	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
LDB2_chr4_16496541_16903645	16726442	T T	TACATTTA others(283): Show TACATTTATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp1 HG02647.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0034 a0001c0001t0003g0013 a0001c0001t0001g0034 a0001c0001t0003g0013	2	159	0.0126	290	c.235 others(309): Show c.235+32715_235+32716insTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATAAATGT	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LHFPL3_chr7_104323603_104913561	104824192	T T	TATTATAT others(283): Show TATTATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATATTATATATTATATATAATATATTATATATTATATATAAT ATATTATATATTATATATATAATATATTATATATTATATATATAATATAT TATATATTATATATTTAATATATTATATATTATATATATAATATATTATA TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATTTTATATATTATATATTATATATTATATATTATATATTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	81	0.0123	290	c.683 others(309): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATTATATATTATATATA ATATATTATATATTATATATAATATATTATATATTATATATATAATATAT TATATATTATATATATAATATATTATATATTATATATTTAATATATTATA TATTATATATATAATATATTATATATTATATATTATATATATATTATATT ATATATTATATATAATTATATATATTTTATATATTATATATTATATATTA TATATTATATATTA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LMF1_chr16_848634_975984	954971	T T	TCTAAGCG others(283): Show TCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGG GTCTGTGCACACACACACACACATCTAAGTGAACCAGACACGTTACATAA AATGTGTGCCTGCAGCAGATGCGGTGTGTGCATACACACACACACATCTA AGTGAATCAGACACGTTACATAAAATGCGTGCCCGCAGCAGACGTGGTGT GTGCATACACACACACACATCTAAGTAAACCAGACACGTTACATAAAATG CGTGCCTGCTGCAGACGTGGTGTGTGTATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(14): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00733.hp2 HG01069.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01993.hp2 HG02027.hp1 HG02056.hp2 HG02738.hp1 HG03195.hp2 HG03831.hp1 NA18612.hp2 NA18951.hp1	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0003c0009 a0003c0014 others(4): Show a0001c0001 a0003c0009 a0003c0014 a0003c0015 a0003c0030 a0003c0032 a0015c0031	a0001c0001t0002 a0003c0009t0001 a0003c0014t0001 others(4): Show a0001c0001t0002 a0003c0009t0001 a0003c0014t0001 a0003c0015t0001 a0003c0030t0002 a0003c0032t0001 a0015c0031t0001	a0001c0001t0002g0266 a0003c0009t0001g0001 a0003c0009t0001g0002 others(14): Show a0001c0001t0002g0266 a0003c0009t0001g0001 a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0004 a0003c0009t0001g0005 a0003c0009t0001g0006 a0003c0014t0001g0009 a0003c0014t0001g0012 a0003c0014t0001g0015 a0003c0014t0001g0016 a0003c0015t0001g0011 a0003c0015t0001g0013 a0003c0015t0001g0014 a0003c0030t0002g0008 a0003c0032t0001g0007 a0015c0031t0001g0010	17	147	0.1156	290	c.194 others(305): Show c.194-306_194-305insGTGTGTGTGTGTATACACACACCACGTCTG CAGCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTTAGATGTGTGTG TGTGTATGCACACACCACGTCTGCTGCGGGCACGCATTTTATGTAACGTG TCTGATTCACTTAGATGTGTGTGTGTGTATGCACACACCGCATCTGCTGC AGGCACACATTTTATGTAACGTGTCTGGTTCACTTAGATGTGTGTGTGTG TGTGCACAGACCCCGTCTGCTGCAGGCACGCATTTTATGTAACGTGTCTG GTTCGCTTAG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LY75_chr2_159798355_159909756	159873806	A A	AGTAAAAA others(283): Show AGTAAAAATACATATAAACGTATATATTTTGTAAAAATACATATAAACGT ATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAATACAT ATAAACGTATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAA AAATACATATAAACGTATATATTTTGTAAAAATACATATAAACGTATATA TTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAATACATATAAA CGTATATATTTTGTAAAAATACATATAAACGTATATATTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0021 a0005c0006t0001g0021	1	292	0.0034	290	c.197 others(309): Show c.1975-1214_1975-1213insAAAATATATACGTTTATATGTATTTT TACAAAATATATACGTTTATATGTATTTTTACAAAATATATACGTTTATA TGTATTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATATATA CGTTTATATGTATTTTTACAAAATATATACGTTTATATGTATTTTTACAA AATATATACGTTTATATGTATTTTTACAAAATATATACGTTTATATGTAT TTTTACAAAATATATACGTTTATATGTATTTTTACAAAATATATACGTTT ATATGTATTTTTAC	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAEA_chr4_1284891_1345137	1317155	C C	CCCCACAC others(283): Show CCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGAC TCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTC ACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACC CCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0282 a0001c0003t0005g0282	1	379	0.0026	290	c.456 others(307): Show c.456+1566_456+1567insCACTCACCTGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCAC CCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACA CTCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCG CAGGCCCACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGG TCCCACACTCCA	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(283): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CACCATCACCATCACTACCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCATCACCACCATCACCACCACCACCATC ACCACCATCACCACCACCACCATCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	327	0.0031	290	c.391 others(305): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCACCATCACCATCACTACCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCATCA CCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(283): Show AGGGGGGAGGGGGGAGGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGG GGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGG GGGGGAGGGGGAGGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGCGGAGAG GGGGGAGGGGGGAGAGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGAGGGAG GGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0012 a0002c0002t0008g0012	1	87	0.0115	290	c.525 others(307): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCCCCCCTC CCCCCTCTCCCCCCTCCCTCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCC CCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCTC TCCCCCCTCCCCCCTCTCCGCCCCTCCCCCTCCCCCTCCCCCCCTCCCCC CTCCCCCTCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCCTC CCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(283): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18952.hp1 HG02602.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0094 a0001c0001t0001g0076 a0001c0001t0001g0094	2	103	0.0194	290	c.107 others(309): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GAGAGAGA others(283): Show GAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAA GGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGAGAGAGAGAGAAA GGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0032 a0001c0006t0005g0032	1	62	0.0161	290	c.225 others(307): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAG AGAAAGGGAGGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432661	A A	AGAGAGAG others(283): Show AGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGG GAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0238 a0001c0008t0010g0238	1	243	0.0041	290	c.225 others(307): Show c.225-2366_225-2365insGGAAAGAGAGAAGGGGAGGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAG AGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAA GGGAGGAGAGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSLN_chr16_755734_773862	767791	G G	GGGGGCGC others(283): Show GGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTG GAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGC ACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCGT GGGGGGGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGGTGCGT GGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCG CGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	245	0.0041	290	c.159 others(307): Show c.1596+322_1596+323insGGGCGCATGGGGGGGCGTGGAGGGGGGT GCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGA GGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGC GTGGAGGAGGAGGGGCGCGTGGGGGGGTGTGGGGGGGGCACGTGGAGGGG GGCGTGTGGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTG GGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTG TGGAGGGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTHFSD_chr16_86525186_86560235	86526754	C C	CCATTTTA others(283): Show CCATTTTATCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAAATTAGCCGGGCGTGATGGTGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCTGGAGGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCACTCCCGCCTGGGCCACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAAGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02280.hp1 others(11): Show HG01884.hp1 HG02055.hp2 HG02280.hp1 HG02622.hp2 HG02630.hp1 HG02895.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0005 a0008c0011 a0001c0001 a0006c0005 a0008c0011	a0001c0001t0009 a0001c0001t0017 a0001c0001t0026 others(2): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0026 a0006c0005t0010 a0008c0011t0001	a0001c0001t0009g0052 a0001c0001t0009g0193 a0001c0001t0009g0194 others(8): Show a0001c0001t0009g0052 a0001c0001t0009g0193 a0001c0001t0009g0194 a0001c0001t0009g0195 a0001c0001t0017g0056 a0001c0001t0017g0057 a0001c0001t0026g0192 a0006c0005t0010g0022 a0006c0005t0010g0102 a0006c0005t0010g0206 a0008c0011t0001g0040	14	282	0.0496	290	c.52 others(301): Show c.5256_*5257insTTCTCTTCTTTTTCTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTGGCCCAGGCGGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCGGCTAATT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGAT AAAATG	MTHFSD	ENSG00000103248.19	transcript	ENST00000360900.11	protein_coding		3431		chr16	TogoVar
MTHFSD_chr16_86525186_86560235	86526754	C C	CCATTTTA others(283): Show CCATTTTATCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAAATTAGCCGGGCGTGATGGTGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCTGGAGGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCACTCCCGCCTGGGCCACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAGAAAGAAAAAGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02615.hp1 others(1): Show HG02486.hp2 HG02572.hp2 HG02615.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0019 a0001c0001t0011g0054 a0001c0001t0011g0019 a0001c0001t0011g0054	4	272	0.0147	290	c.52 others(301): Show c.5256_*5257insTTCTCTTCTTTTTCTTTCTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTGGCCCAGGCGGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCGGCTAATT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGAT AAAATG	MTHFSD	ENSG00000103248.19	transcript	ENST00000360900.11	protein_coding		3431		chr16	TogoVar

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