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
TRUB1_chr10_114933195_114982676	114935472	CGAGGGGT others(212): Show CGAGGGGTCCACTCCTGTGACCCAATCACCTACCACCAGGCCCAACCTCC AACACTGGGAGCTAAACCATTCACGAGGGGTCCACTCCTGTGATCCAATC ACCTACCACCAGGCCCAACCTCCAACACTGGGAGCTAAACCATTCACGAG GGGTCCACTCCTGTGATCCAATCACCTACCACCAGGCCCAACCTCCAACA CTGGGAGCTAAACCATTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	236	0.0042	-219	c.-27 others(11): Show c.-2781_-2563del	TRUB1	ENSG00000165832.6	transcript	ENST00000298746.5	protein_coding		2722		chr10	TogoVar
TSPEAR_chr21_44492893_44716572	44591798	GCAGCAGG others(212): Show GCAGCAGGCCTGCTGGCAGGGGGAGGAGGTGCAGCAAGTTGGCTGGCAGC TAGACTGCTGGCAGCATGAGGGTGTGCAGGAGCTGGTGCAGCCTGATTGG CAGGGGCTGGGCTCACAGACCGCCTGGCAGCAGGGGCTGGACACACAGCT CACACAGCTAGACTGCTGGCAGCACGAAGAGGAAATCCCAGAGCAGACAG GCTTGCAGCAGACGGGCACA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	278	0.0036	-219	c.83- others(17): Show c.83-24012_83-23794del	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11			chr21	TogoVar
TTLL8_chr22_50013575_50063298	50028618	GAAGACCC others(212): Show GAAGACCCCCACATACCCTCGTAAAGACCCCATCACACCATCCTAAAGAC CCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACA CACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACATACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAG ACCCCCATCACGCTGTCCTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	172	0.0058	-219	c.225 others(19): Show c.2251+1593_2251+1811del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028667	CCCCCACA others(212): Show CCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCAC ACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACATACCC TCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAA GACCCCCATCACGCTGTCCTAAAGACCCCCACATACCCTCGTAAAGACCC CCATCACACCATCCTAAAGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp1 HG01891.hp1 HG03139.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0023 a0004c0004t0001g0133 a0004c0004t0001g0023 a0004c0004t0001g0133	2	193	0.0104	-219	c.225 others(19): Show c.2251+1544_2251+1762del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028678	ACTCGTAA others(212): Show ACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTAAAGACCCCCACATACCCTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCCATCA CGCTGTCCTAAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCA TCCTAAAGACCCCACATACC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20805.hp1 HG02451.hp1 NA20805.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0006 a0003c0003 a0006c0006	a0003c0003t0002 a0006c0006t0002 a0003c0003t0002 a0006c0006t0002	a0003c0003t0002g0016 a0006c0006t0002g0044 a0003c0003t0002g0016 a0006c0006t0002g0044	2	182	0.0110	-219	c.225 others(19): Show c.2251+1533_2251+1751del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
ZNF444_chr19_56136287_56165893	56149010	CGACCTCT others(212): Show CGACCTCTGCTTCCATCCCCCATCACTCCTCCGACCTTGACCTCTGCTTC CATCCCCATCACTCCTCCGACCTTGACCTCTGCTTCCATCCCCCATCACT CCTCTGACCTTGACCTCTGCTTCCATCCCCATCACTCCTCCGACCTTGAC CTCTGCTTTCATCCCCATCACTCCTCCGACCTTGACCTCTGCTTCCATCC CCCATCACTCCTCTGACCTT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0087 a0001c0002t0007g0087	1	413	0.0024	-219	c.297 others(17): Show c.297+1851_297+2069del	ZNF444	ENSG00000167685.15	transcript	ENST00000337080.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADAP1_chr7_892900_959680	942854	GAGAGGAG others(211): Show GAGAGGAGGAGGAAGGGAGGAGGAGGAAGAGGAGGAAGGGAGAGAGGATG AGGAAGGGAGAGAGGAGGAGGAAGGGAGTGAGGAGGAGGAAGAGAGAGGA GGAGGAAGGGAGTGAGGAGGAGGAAGAGAGAGTAGGAGGAAGAGAGGAGG AGGAAGGGAGAGAGGAGGAGGAAGGGAGGAGGAGGAAGGGAGAGACGAGG AGGAAGGGAGGAGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	12	0.0833	-218	c.83- others(15): Show c.83-7567_83-7350del	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	1/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1237568	GCCTCCCG others(211): Show GCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCATCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCT CCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTCCC	G G	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	75	0.0133	-218	c.136 others(19): Show c.1362-3941_1362-3724del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ALDH16A1_chr19_49448225_49476050	49463208	AGACTCCT others(211): Show AGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGC TGGGGCCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGGGTCCAGATTCCTGGGTCTGAGGG AGGAGGGGCTGGGGGCCTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(89): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00639.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01496.hp1 HG01517.hp2 HG01943.hp1 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19056.hp1 NA19067.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0012 a0015 a0017	a0001c0005 a0001c0009 a0002c0002 others(5): Show a0001c0005 a0001c0009 a0002c0002 a0002c0006 a0007c0020 a0012c0018 a0015c0019 a0017c0030	a0001c0005t0002 a0001c0005t0006 a0001c0009t0002 others(13): Show a0001c0005t0002 a0001c0005t0006 a0001c0009t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0006t0001 a0002c0006t0002 a0002c0006t0005 a0007c0020t0003 a0012c0018t0002 a0015c0019t0002 a0017c0030t0002	a0001c0005t0002g0006 a0001c0005t0002g0035 a0001c0005t0002g0134 others(55): Show a0001c0005t0002g0006 a0001c0005t0002g0035 a0001c0005t0002g0134 a0001c0005t0002g0135 a0001c0005t0002g0147 a0001c0005t0006g0102 a0001c0009t0002g0005 a0001c0009t0002g0042 a0001c0009t0002g0166 a0002c0002t0001g0018 a0002c0002t0001g0037 a0002c0002t0001g0044 a0002c0002t0001g0140 a0002c0002t0001g0144 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0184 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0011 a0002c0002t0002g0017 a0002c0002t0002g0034 a0002c0002t0002g0038 a0002c0002t0002g0040 a0002c0002t0002g0043 a0002c0002t0002g0129 a0002c0002t0002g0136 a0002c0002t0002g0139 a0002c0002t0002g0141 a0002c0002t0002g0152 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0165 a0002c0002t0002g0169 a0002c0002t0002g0183 a0002c0002t0002g0186 a0002c0002t0003g0041 a0002c0002t0003g0164 a0002c0002t0006g0039 a0002c0002t0006g0142 a0002c0002t0007g0159 a0002c0002t0007g0160 a0002c0002t0010g0004 a0002c0002t0010g0179 a0002c0006t0001g0018 a0002c0006t0001g0146 a0002c0006t0002g0036 a0002c0006t0002g0148 a0002c0006t0002g0149 a0002c0006t0005g0174 a0007c0020t0003g0041 a0012c0018t0002g0145 a0015c0019t0002g0006 a0017c0030t0002g0006	92	340	0.2706	-218	c.109 others(17): Show c.1098+477_1099-405del	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49463462	CAGACTCC others(211): Show CAGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTG CTGGGGCCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCCAGACTCCTGGGTCTGAGG GAGGAGGGGCTGGGGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00642.hp2 others(39): Show HG00423.hp1 HG00423.hp2 HG00642.hp2 HG00738.hp2 HG01109.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02056.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 NA18522.hp2 NA18941.hp2 NA18957.hp2 NA18980.hp2 NA19060.hp1 NA19078.hp1 NA19080.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0014 a0001c0015 others(3): Show a0001c0001 a0001c0014 a0001c0015 a0001c0016 a0001c0028 a0008c0024	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0014t0001 a0001c0014t0007 a0001c0015t0001 a0001c0015t0003 a0001c0016t0001 a0001c0016t0007 a0001c0028t0001 a0008c0024t0004	a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0070 others(31): Show a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0003g0075 a0001c0001t0004g0016 a0001c0001t0004g0019 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0118 a0001c0001t0004g0127 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0005g0013 a0001c0001t0006g0077 a0001c0001t0011g0080 a0001c0014t0001g0076 a0001c0014t0007g0074 a0001c0015t0001g0078 a0001c0015t0003g0079 a0001c0016t0001g0069 a0001c0016t0007g0068 a0001c0028t0001g0071 a0008c0024t0004g0019	42	340	0.1235	-218	c.109 others(17): Show c.1099-391_1099-174del	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16			chr19	TogoVar
ANKLE2_chr12_132720503_132766832	132758936	TGGATCAC others(211): Show TGGATCACGCAGTGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCG CTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGG AGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGC ACCCCGGGGCACCCACGTGGCAGAGTGGATCACGCAGAGTGGCACCCCGG GGCACCCACGTGGCAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01943.hp1 HG02074.hp1 others(13): Show HG00609.hp2 HG01943.hp1 HG02074.hp1 HG02132.hp1 NA18747.hp2 NA18943.hp2 NA18980.hp1 NA18990.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19056.hp1 NA19060.hp1 NA19082.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0069 a0001c0001t0001g0070 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0155 a0001c0001t0007g0104 a0001c0001t0010g0094 a0004c0006t0001g0093	16	274	0.0584	-218	c.181 others(17): Show c.181+2464_181+2681del	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANO2_chr12_5557655_5950259	5929639	TACTAGTC others(211): Show TACTAGTCTACCTTCTTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTT ACTAGTCTATCTTCTTTCCTTACTCGTCTGCCTTCTTTCCTTATTAGTCA CTTTCTTACCAGTCTTCCTTCCTTACGAGTCTACCTTCCTTCCTTACTCG TCTACCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTAC TAGTCTACCTTCTTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01167.hp2 others(18): Show HG01074.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01884.hp2 HG02109.hp2 HG02129.hp1 HG02148.hp2 HG02258.hp2 HG02559.hp2 HG02602.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp1 NA19030.hp2 NA21309.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0008	a0001c0001 a0001c0005 a0001c0024 others(4): Show a0001c0001 a0001c0005 a0001c0024 a0004c0008 a0004c0009 a0005c0010 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0001c0024t0001 a0004c0008t0001 a0004c0009t0001 a0005c0010t0003 a0008c0012t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0002g0149 a0001c0001t0003g0004 a0001c0005t0001g0003 a0001c0005t0001g0070 a0001c0024t0001g0074 a0004c0008t0001g0055 a0004c0008t0001g0061 a0004c0008t0001g0064 a0004c0008t0001g0067 a0004c0009t0001g0054 a0004c0009t0001g0065 a0004c0009t0001g0066 a0005c0010t0003g0006 a0008c0012t0002g0146	21	156	0.1346	-218	c.23- others(15): Show c.23-7053_23-6836del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
APBB2_chr4_40805027_41219542	41216719	ACAGTGAC others(211): Show ACAGTGACGTCGAAACGGCCACCAAGCGTTGCGCAGCTGCAGGAGGAAAT TCCCTTAATTATGAATTTACAGAGGGGACTGATCGGGGCCGGAGGGAAGG CTTTGACCCTTCCCTTGCTTCCTTCCTTCGTCCGCCTCCCAACACATTGT CTCTCTCACTGAAAGGAACGTTTAACAGCAGTTTTAAGGCAGTATGGAGA GGAATCTCCATGCCCTCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0168 a0002c0001t0006g0168	1	190	0.0053	-218	c.-29 others(11): Show c.-2949_-2732del	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding		2178		chr4	TogoVar
ATP11A_chr13_112685038_112892168	112804225	TCCCCCCA others(211): Show TCCCCCCATCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCCCC ATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACC TCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCA CCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCT TCCCTCCTTCACCTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0026 a0002c0003t0026	a0002c0003t0026g0241 a0002c0003t0026g0241	1	250	0.0040	-218	c.163 others(15): Show c.163-702_163-485del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BEST3_chr12_69648609_69704303	69665033	ACTACAGC others(211): Show ACTACAGCGAACACCAGAGGGAGTCTTAATGGCTCTGTCCAAACAAGGCC AGGGTACAGCAGCAAAGTGAAATTCAGTAAAAGGGATGCCAAGTCACACA GTGGACAGCACTACAGCGAACACCAGAGGGAGTCTTAATGGCTCTGTCCA AACAAGGCCAGGGTACAGCAGCAAAGTGAAATTCAGTAAAAGGGATGCCA AGTCACACAGTGGACAGCT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0246 a0002c0002t0003g0246	1	364	0.0027	-218	c.110 others(19): Show c.1100+6177_1100+6394del	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	9/9			chr12	TogoVar
C3_chr19_6672704_6725650	6700337	AATATGTA others(211): Show AATATGTAATATATGATATATATGTAATATGATATATTATATATGTAATA TATGATATATATGTAATATGATATATTATATATGTAATATATGATATATG TAATATGATATATGTAATATATATGTTATATATGTAATATATAATATATG TAATATGATATATTATATATGTAATATATAATATATGTAATATGATATAT TATATATGTAATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0002 a0001c0001t0001 a0001c0002t0001 a0001c0007t0002	a0001c0001t0001g0353 a0001c0002t0001g0352 a0001c0007t0002g0350 others(1): Show a0001c0001t0001g0353 a0001c0002t0001g0352 a0001c0007t0002g0350 a0001c0007t0002g0351	4	367	0.0109	-218	c.244 others(19): Show c.2440+1572_2440+1789del	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
CCNF_chr16_2424447_2463854	2442435	ATATAATA others(211): Show ATATAATATATAATATTATATAATATAATATTATTATATATAATATATAA TATTATATAATATAATATTATTATATATAATATATAATATTATATAATAT AATATTATTATATATAATATATAATATTATATAATATAATATTATTATAT ATAATATATAATATTATATAATATAATATTATATATAATATATAATATTA TATAATATAATATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(184): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18949.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0007t0001 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(178): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0262 a0001c0001t0002g0249 a0001c0001t0002g0260 a0001c0001t0003g0008 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0235 a0001c0001t0004g0247 a0001c0001t0005g0048 a0001c0001t0005g0150 a0001c0001t0008g0174 a0001c0001t0011g0214 a0001c0001t0012g0058 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0002g0259 a0001c0002t0007g0261 a0001c0007t0001g0146 a0002c0003t0001g0143 a0004c0005t0001g0149	187	271	0.6900	-218	c.778 others(16): Show c.778-1213_778-996del	CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	8/16			chr16	TogoVar
CNST_chr1_246561456_246673595	246620041	ACTCTACA others(211): Show ACTCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATGGGCTCTGG GAACACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGGGCT CTGGGAACACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATG GGCTCTGGGCACACTACAGGGAGGACGGCTTCATCGTGGTGCATACACAC GATGGGCTCTGGGAACACT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02818.hp2 others(2): Show HG02451.hp2 HG02630.hp2 HG02818.hp2 HG02897.hp2 HG03471.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0021 a0004c0004t0003 a0004c0004t0021	a0004c0004t0003g0117 a0004c0004t0003g0183 a0004c0004t0003g0190 others(2): Show a0004c0004t0003g0117 a0004c0004t0003g0183 a0004c0004t0003g0190 a0004c0004t0003g0191 a0004c0004t0021g0150	5	315	0.0159	-218	c.380 others(17): Show c.380-1385_380-1168del	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COMMD10_chr5_116080025_116298287	116129458	GTATATAT others(211): Show GTATATATATACTATATACTAATGTAATATACATTAGTATATATATACTA TATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAAT ATACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATAT ATATACTATATACTAATGTAATATACATTAGTATATATATACTATATACT AATGTAATATACATTAGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(105): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18988.hp2 NA18992.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006	a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0007 others(101): Show a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0003g0074 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0006g0143	108	347	0.3112	-218	c.400 others(17): Show c.400-4601_400-4384del	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
DHRS12_chr13_51762993_51809163	51775756	TCTACAGT others(211): Show TCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCT CCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTA CAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTA CATGTATTCTACAGTATTCTCCTACATGTACTCTACAGTATTCTCCTACA TGTATTCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	418	0.0024	-218	c.363 others(17): Show c.363+1086_363+1303del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DLGAP2_chr8_732628_1713476	1642567	TCCTCACC others(211): Show TCCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACCTGTGTCACCCT CGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCAC CTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGAACCC GCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCTCACCTGTGTC ACCCCTCGAACCCGCCAGC	T T	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	22	0.0455	-218	c.181 others(19): Show c.1810+9547_1810+9764del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH1_chr8_659200_736224	675514	GTGAGGAC others(211): Show GTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGGCGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03209.hp1 HG01361.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0219 a0001c0002t0002g0333 a0001c0001t0001g0219 a0001c0002t0002g0333	2	375	0.0053	-218	c.305 others(17): Show c.305-1685_305-1468del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC3L4_chr14_103089725_103115559	103109216	CCCTCCCT others(211): Show CCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTC TCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCAC CCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01192.hp2 HG00544.hp2 HG01192.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0004 a0001c0003 a0005c0004	a0001c0003t0002 a0005c0004t0001 a0001c0003t0002 a0005c0004t0001	a0001c0003t0002g0180 a0005c0004t0001g0001 a0001c0003t0002g0180 a0005c0004t0001g0001	2	368	0.0054	-218	c.197 others(17): Show c.1976+721_1977-576del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM20B_chr1_179020894_179081567	179040493	CCCCCCCA others(211): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCTACCTCCCTCCAGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCTGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG01069.hp2 others(33): Show HG00544.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01175.hp1 HG01891.hp2 HG02015.hp1 HG02080.hp1 HG02135.hp1 HG02145.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03195.hp2 HG03225.hp1 HG03516.hp1 NA18906.hp2 NA18942.hp1 NA18950.hp1 NA18951.hp2 NA18975.hp2 NA19000.hp1 NA19004.hp1 NA19006.hp1 NA19064.hp1 NA19076.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 others(4): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0033 a0001c0002t0020 a0002c0003t0005	a0001c0001t0005g0013 a0001c0001t0005g0058 a0001c0001t0005g0059 others(29): Show a0001c0001t0005g0013 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0007g0025 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0150 a0001c0001t0011g0015 a0001c0001t0011g0102 a0001c0001t0011g0103 a0001c0001t0019g0074 a0001c0001t0019g0075 a0001c0001t0033g0015 a0001c0002t0020g0104 a0001c0002t0020g0105 a0002c0003t0005g0063	36	406	0.0887	-218	c.-13 others(19): Show c.-133-3187_-133-2970del	FAM20B	ENSG00000116199.12	transcript	ENST00000263733.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM210A_chr18_13658347_13731558	13674587	TTATTTCC others(211): Show TTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTAGCTTCTTGAT TTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTCATTTCCAGT TTCCTGATTATTAACATTCCTGAGCCCTAGCTTCTTGATTTCCAGTTTCC TGATTATTAACATTCCTGAGCCCCGACTTTATTTCCAGTTTTCTGATTAT TAACATTCCTGAGCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	324	0.0031	-218	c.474 others(17): Show c.474-2832_474-2615del	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAR2_chr12_29144278_29340616	29145709	AGAAATCA others(211): Show AGAAATCACGTTGTTCTGAATTGCATATCTGATGACTGGGCCAAAGGCTC ACTCTACCTAGTAATATCTGTGCAGCGTGTAATAATACCCTTAACATTAT AAAAGAAGAGATAGGCACCGTGACAATCCCCCAAAAAAGAAGGAAAATGC CATAGAAAAGATTGGATTGGAACGAGGCCGACATTCCCAACCCCCAAGAA TGATGGAGGGGTGGTGTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01257.hp1 HG01891.hp1 others(7): Show HG00738.hp1 HG01257.hp1 HG01891.hp1 HG02109.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0017	a0001c0001t0009g0218 a0001c0001t0009g0220 a0001c0002t0001g0205 others(7): Show a0001c0001t0009g0218 a0001c0001t0009g0220 a0001c0002t0001g0205 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0002g0212 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0008g0192 a0001c0002t0017g0219	10	324	0.0309	-218	c.-37 others(11): Show c.-3736_-3519del	FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding		3568		chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241806537	CCCCCCTC others(211): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0013	1	281	0.0036	-218	c.23 others(11): Show c.2372_*2589del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2251		chr2	TogoVar
ITGA11_chr15_68291532_68437163	68420999	ACTGCCTG others(211): Show ACTGCCTGAGGTTTGGTGGGCAGGATGCCGGAGTGTGTGCTGTGAGGAAT GGTAAGAACAGAACAGTGGGCTGAGGCCTCTGAGAGGAAACCGAAAGCCA ACTAAGGCATTTGGATTTAGCAGATGGGAGCCATGGAAGGTTTTTGAGGG AGAGCAGTGACATGTTCTATCTGTGCTTGGAGGAGCTTCCTCAGGTGGGA GGGGGAGGCTGGATACAGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(180): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18998.hp1 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19081.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0002 a0001c0003 others(70): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0024 a0001c0028 a0001c0034 a0001c0036 a0001c0037 a0001c0041 a0001c0042 a0001c0056 a0001c0061 a0001c0063 a0001c0078 a0001c0081 a0002c0008 a0002c0011 a0002c0012 a0002c0016 a0002c0022 a0002c0030 a0002c0035 a0002c0038 a0002c0043 a0002c0055 a0002c0067 a0002c0080 a0003c0004 a0003c0009 a0003c0014 a0003c0031 a0003c0040 a0003c0062 a0003c0066 a0004c0010 a0004c0013 a0004c0029 a0004c0052 a0004c0065 a0004c0075 a0004c0076 a0004c0077 a0004c0079 a0004c0083 a0005c0015 a0005c0018 a0005c0032 a0005c0072 a0006c0017 a0006c0025 a0006c0033 a0006c0047 a0006c0069 a0007c0007 a0007c0051 a0008c0020 a0008c0044 a0008c0082 a0009c0019 a0010c0021 a0010c0084 a0011c0026 a0012c0027 a0013c0045 a0013c0068 a0015c0048 a0016c0070 a0017c0073 a0018c0064 a0019c0049 a0020c0074	a0001c0001t0001 a0001c0001t0015 a0001c0001t0022 others(114): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0020 a0001c0002t0034 a0001c0003t0001 a0001c0003t0003 a0001c0003t0033 a0001c0003t0038 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0005t0012 a0001c0005t0035 a0001c0006t0003 a0001c0006t0004 a0001c0006t0008 a0001c0024t0001 a0001c0024t0005 a0001c0028t0004 a0001c0028t0012 a0001c0034t0001 a0001c0034t0005 a0001c0036t0001 a0001c0037t0001 a0001c0041t0001 a0001c0042t0001 a0001c0056t0001 a0001c0061t0001 a0001c0063t0005 a0001c0078t0004 a0001c0081t0001 a0002c0008t0002 a0002c0008t0011 a0002c0011t0006 a0002c0011t0008 a0002c0011t0031 a0002c0012t0001 a0002c0016t0002 a0002c0022t0002 a0002c0022t0007 a0002c0030t0016 a0002c0030t0027 a0002c0035t0002 a0002c0038t0007 a0002c0043t0013 a0002c0055t0001 a0002c0067t0051 a0002c0080t0002 a0003c0004t0001 a0003c0004t0036 a0003c0009t0001 a0003c0009t0002 a0003c0009t0041 a0003c0014t0001 a0003c0014t0003 a0003c0014t0018 a0003c0031t0001 a0003c0031t0004 a0003c0040t0042 a0003c0062t0004 a0003c0066t0004 a0004c0010t0001 a0004c0010t0009 a0004c0013t0007 a0004c0013t0011 a0004c0013t0047 a0004c0013t0048 a0004c0029t0003 a0004c0052t0006 a0004c0065t0011 a0004c0075t0016 a0004c0076t0009 a0004c0077t0006 a0004c0079t0030 a0004c0083t0007 a0005c0015t0024 a0005c0015t0043 a0005c0015t0044 a0005c0018t0018 a0005c0018t0026 a0005c0018t0046 a0005c0032t0002 a0005c0072t0013 a0006c0017t0001 a0006c0025t0039 a0006c0033t0001 a0006c0047t0040 a0006c0069t0001 a0007c0007t0001 a0007c0007t0010 a0007c0007t0032 a0007c0051t0025 a0008c0020t0017 a0008c0020t0029 a0008c0044t0001 a0008c0082t0028 a0009c0019t0002 a0009c0019t0008 a0010c0021t0001 a0010c0021t0004 a0010c0021t0045 a0010c0084t0001 a0011c0026t0001 a0011c0026t0022 a0012c0027t0019 a0013c0045t0052 a0013c0068t0003 a0015c0048t0001 a0016c0070t0001 a0017c0073t0013 a0018c0064t0009 a0019c0049t0006 a0020c0074t0012	a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0075 others(179): Show a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0015g0001 a0001c0001t0015g0172 a0001c0001t0022g0169 a0001c0002t0001g0004 a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0056 a0001c0002t0001g0081 a0001c0002t0001g0181 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0003g0005 a0001c0002t0020g0017 a0001c0002t0034g0077 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0059 a0001c0003t0001g0086 a0001c0003t0001g0093 a0001c0003t0001g0102 a0001c0003t0001g0158 a0001c0003t0001g0179 a0001c0003t0001g0185 a0001c0003t0001g0189 a0001c0003t0001g0219 a0001c0003t0003g0063 a0001c0003t0033g0053 a0001c0003t0038g0165 a0001c0005t0001g0113 a0001c0005t0003g0128 a0001c0005t0004g0157 a0001c0005t0005g0042 a0001c0005t0005g0220 a0001c0005t0005g0221 a0001c0005t0005g0241 a0001c0005t0012g0182 a0001c0005t0035g0226 a0001c0006t0003g0228 a0001c0006t0003g0238 a0001c0006t0004g0043 a0001c0006t0004g0133 a0001c0006t0008g0233 a0001c0006t0008g0234 a0001c0024t0001g0097 a0001c0024t0005g0141 a0001c0028t0004g0224 a0001c0028t0012g0137 a0001c0034t0001g0155 a0001c0034t0005g0024 a0001c0036t0001g0174 a0001c0037t0001g0173 a0001c0037t0001g0190 a0001c0041t0001g0015 a0001c0042t0001g0094 a0001c0056t0001g0083 a0001c0061t0001g0050 a0001c0063t0005g0003 a0001c0078t0004g0078 a0001c0081t0001g0237 a0002c0008t0002g0159 a0002c0008t0011g0030 a0002c0011t0006g0084 a0002c0011t0008g0146 a0002c0011t0031g0026 a0002c0012t0001g0054 a0002c0012t0001g0065 a0002c0012t0001g0200 a0002c0016t0002g0051 a0002c0016t0002g0085 a0002c0016t0002g0154 a0002c0016t0002g0163 a0002c0022t0002g0018 a0002c0022t0007g0108 a0002c0030t0016g0136 a0002c0030t0027g0119 a0002c0035t0002g0095 a0002c0035t0002g0096 a0002c0038t0007g0002 a0002c0043t0013g0142 a0002c0055t0001g0199 a0002c0067t0051g0120 a0002c0080t0002g0227 a0003c0004t0001g0061 a0003c0004t0001g0062 a0003c0004t0001g0064 a0003c0004t0001g0099 a0003c0004t0001g0101 a0003c0004t0001g0109 a0003c0004t0001g0135 a0003c0004t0001g0166 a0003c0004t0001g0170 a0003c0004t0001g0216 a0003c0004t0036g0202 a0003c0009t0001g0079 a0003c0009t0001g0217 a0003c0009t0002g0225 a0003c0009t0041g0080 a0003c0014t0001g0010 a0003c0014t0001g0178 a0003c0014t0003g0009 a0003c0014t0018g0232 a0003c0031t0001g0035 a0003c0031t0004g0082 a0003c0040t0042g0019 a0003c0062t0004g0025 a0003c0066t0004g0020 a0004c0010t0001g0092 a0004c0010t0001g0110 a0004c0010t0009g0130 a0004c0010t0009g0131 a0004c0010t0009g0132 a0004c0013t0007g0114 a0004c0013t0011g0183 a0004c0013t0047g0230 a0004c0013t0048g0032 a0004c0029t0003g0036 a0004c0029t0003g0129 a0004c0052t0006g0145 a0004c0065t0011g0117 a0004c0075t0016g0016 a0004c0076t0009g0116 a0004c0077t0006g0222 a0004c0079t0030g0028 a0004c0083t0007g0143 a0005c0015t0024g0060 a0005c0015t0043g0052 a0005c0015t0044g0196 a0005c0018t0018g0231 a0005c0018t0026g0037 a0005c0018t0046g0031 a0005c0032t0002g0201 a0005c0072t0013g0039 a0006c0017t0001g0121 a0006c0017t0001g0139 a0006c0017t0001g0140 a0006c0025t0039g0194 a0006c0033t0001g0011 a0006c0033t0001g0012 a0006c0047t0040g0115 a0006c0069t0001g0091 a0007c0007t0001g0055 a0007c0007t0001g0148 a0007c0007t0010g0112 a0007c0007t0032g0111 a0007c0051t0025g0160 a0008c0020t0017g0023 a0008c0020t0017g0161 a0008c0020t0029g0127 a0008c0044t0001g0040 a0008c0082t0028g0124 a0009c0019t0002g0048 a0009c0019t0008g0147 a0009c0019t0008g0164 a0010c0021t0001g0186 a0010c0021t0004g0239 a0010c0021t0045g0029 a0010c0084t0001g0153 a0011c0026t0001g0066 a0011c0026t0022g0034 a0012c0027t0019g0235 a0012c0027t0019g0236 a0013c0045t0052g0008 a0013c0068t0003g0021 a0015c0048t0001g0069 a0016c0070t0001g0098 a0017c0073t0013g0138 a0018c0064t0009g0223 a0019c0049t0006g0240 a0020c0074t0012g0022	183	240	0.7625	-218	c.52+ others(17): Show c.52+10798_52+11015del	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	1/29			chr15	TogoVar
MEGF6_chr1_3482951_3616508	3585036	CGTCCTGT others(211): Show CGTCCTGTGTGTGGGAGTGAGTGACACGTGTCCTATGTGTGAGTGTGAGT GAGGACACATGTCCTGTGTGAGGACGTATGTCCTGTGTGTGGGTGTGAGT GACACATGTCCTGTGTGTGGGTGTGTGGACACGTCCTGTGTGTGGGTGTG AGTGACACATGTCCTATGTGTGAGTATGAGTGAGGACACTTGTCCTGTGT GTGGGTGTGAGTGACATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02602.hp2 HG04115.hp2 others(7): Show HG00323.hp1 HG02602.hp2 HG04115.hp2 NA18944.hp1 NA18999.hp2 NA19007.hp2 NA19057.hp2 NA19065.hp1 NA19067.hp1 NA19091.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0011 a0014 a0016 a0096	a0001c0007 a0002c0002 a0004c0004 others(4): Show a0001c0007 a0002c0002 a0004c0004 a0011c0011 a0014c0012 a0016c0014 a0096c0059	a0001c0007t0020 a0002c0002t0001 a0004c0004t0021 others(4): Show a0001c0007t0020 a0002c0002t0001 a0004c0004t0021 a0011c0011t0001 a0014c0012t0002 a0016c0014t0001 a0096c0059t0003	a0001c0007t0020g0283 a0002c0002t0001g0082 a0002c0002t0001g0179 others(7): Show a0001c0007t0020g0283 a0002c0002t0001g0082 a0002c0002t0001g0179 a0004c0004t0021g0055 a0011c0011t0001g0073 a0011c0011t0001g0084 a0014c0012t0002g0212 a0016c0014t0001g0079 a0016c0014t0001g0080 a0096c0059t0003g0085	10	288	0.0347	-218	c.377 others(17): Show c.377-5325_377-5108del	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MLPH_chr2_237482251_237560322	237544250	GGACAGTA others(211): Show GGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGG GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAAT GGGGACAGTAGTGAGTGGGGGACCGTGGTGAGTGGGGGCACAGTGGTGAG TGGGGACAGTGGTGAGTCGGGGGACAGTGGTGAATGGGCACGGTAGTGAG TGGGGGGACAGTAGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02897.hp2 others(1): Show HG01884.hp2 HG02055.hp1 HG02897.hp2 NA20300.hp2	a0002 a0003 a0024 a0002 a0003 a0024	a0002c0008 a0003c0003 a0024c0050 a0002c0008 a0003c0003 a0024c0050	a0002c0008t0001 a0003c0003t0001 a0003c0003t0005 others(1): Show a0002c0008t0001 a0003c0003t0001 a0003c0003t0005 a0024c0050t0005	a0002c0008t0001g0093 a0003c0003t0001g0261 a0003c0003t0005g0262 others(1): Show a0002c0008t0001g0093 a0003c0003t0001g0261 a0003c0003t0005g0262 a0024c0050t0005g0117	4	283	0.0141	-218	c.153 others(19): Show c.1539+1593_1539+1810del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYADM_chr19_53862883_53881435	53870011	CCTGGGCT others(211): Show CCTGGGCTCCTGGGTCCGAGGGAGGAGGGGCTGGGGGTCTGGACTCCGGG GTCCGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCCGAGGAAGGAG GGGCTGGGGTCTGGACTCCTGGGTCCGAGGAAGGAGGGGCTGGGGGCCTG GGCTCCTGGGTCCGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCCG AGGGAGGAGGGGCTGGGGT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02145.hp1 others(7): Show HG01070.hp2 HG01071.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02615.hp1 HG02647.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0057 a0001c0001t0058 others(4): Show a0001c0001t0012 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064	a0001c0001t0012g0007 a0001c0001t0057g0007 a0001c0001t0058g0007 others(4): Show a0001c0001t0012g0007 a0001c0001t0057g0007 a0001c0001t0058g0007 a0001c0001t0059g0045 a0001c0001t0062g0017 a0001c0001t0063g0017 a0001c0001t0064g0044	10	366	0.0273	-218	c.-3+ others(13): Show c.-3+178_-3+395del	MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYOM2_chr8_2040046_2150456	2085689	CTGCGTGG others(211): Show CTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTG ATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGT CGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACT GTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCC CACAGTCGTGATCTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02273.hp2 HG02293.hp2 HG01993.hp1 HG02273.hp2 HG02293.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0013 a0001c0002 a0006c0013	a0001c0002t0001 a0006c0013t0001 a0001c0002t0001 a0006c0013t0001	a0001c0002t0001g0013 a0001c0002t0001g0325 a0006c0013t0001g0158 a0001c0002t0001g0013 a0001c0002t0001g0325 a0006c0013t0001g0158	3	374	0.0080	-218	c.164 others(17): Show c.1644+302_1644+519del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYZAP_chr15_57586904_57690364	57688184	TGTGTGTA others(211): Show TGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATATA TGTGTGTACAATATACACATATATTATGTGTGTACAATATACACATATAT TATGTGTGTACAATATACACATATATAATATGTGTGTACAATATACACAT ATATATAATATGTGTGTACAATATACACATATATATAATATGTGTGTACA ATATACACATATAATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0085 a0001c0003t0002g0085	1	341	0.0029	-218	c.36 others(11): Show c.3687_*3904del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2821		chr15	TogoVar
NOP14_chr4_2932936_2968406	2945951	ACTCCAGA others(211): Show ACTCCAGATCACCCTCACTGCCGTGCACTCTCACTCCAGATCACCCTCAC TGCCGTGCACTCTCACTCCAGATCACCCTCACTGCCGTGCACTCTCACTC CAGATCACCCTCACTGCCGTGCACTCTCACTCCAGATCACCCTCACTGCC GTGCACTCTCACTCCAGATCACCCTCGCTGCCGTGCACTCACTCCAGATC ACCCTCACTGCCGTGCACT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18747.hp2 NA18954.hp1 others(1): Show HG02040.hp1 NA18747.hp2 NA18954.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0100 a0001c0001t0001g0147 a0001c0001t0001g0031 a0001c0001t0001g0100 a0001c0001t0001g0147	4	420	0.0095	-218	c.163 others(17): Show c.1635+243_1635+460del	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	11/17			chr4	TogoVar
NXPH1_chr7_8428609_8757961	8658998	TATATATA others(211): Show TATATATATTTTTTTTTTTTTTTGCTAAAACAGAAAAAGTATAAGGTGAA TGCCCCAGCAAATGGGTTTGTTTCATGTATCAGGGCCAAGTGACAATTGG CTCTGTGTGGTTATAGTTTTCAGTCCCACTTAGAGGGATGTAGAAGAATC CCAGAAGTTTTCAAAGCTGATTAACAACTTAAAAAGGAAGATTACCAGAG TGCTATTGACAATAACTAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(107): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18950.hp2 NA18960.hp2 NA18961.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18977.hp2 NA18985.hp1 NA18985.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp1 NA19030.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0003t0021	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(107): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0114 a0001c0001t0002g0125 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0197 a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0053 a0001c0001t0003g0093 a0001c0001t0003g0133 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0157 a0001c0001t0004g0187 a0001c0001t0005g0072 a0001c0001t0005g0132 a0001c0001t0006g0046 a0001c0001t0006g0194 a0001c0001t0007g0184 a0001c0001t0008g0070 a0001c0001t0008g0188 a0001c0001t0012g0065 a0001c0001t0013g0185 a0001c0001t0014g0109 a0001c0001t0015g0201 a0001c0001t0016g0099 a0001c0001t0017g0118 a0001c0001t0018g0172 a0001c0001t0019g0127 a0001c0002t0001g0195 a0001c0003t0021g0081	110	208	0.5288	-218	c.55- others(17): Show c.55-92007_55-91790del	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
PARPBP_chr12_102115183_102202520	102185625	AGCCATTG others(211): Show AGCCATTGGGCCCTGGGCTTTTCTTTGCTGGGATAATTTTTTTTATTTTT TTGAGATGGAGTCTCAGTTTCTCAACCAGGCTGGAGTACAGTGGCGTGAT CTCGGCTCACTGTAACCTTCTGTGTTTTAAGTGATCCTACTGTCTCATCC TCCCAAGTAGCTGGGATTACAGGCACCCACCACCATGCCCAGCTAGTTTT TGTATTTTTAGAAGAGATG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0103 a0001c0004t0001g0103	1	342	0.0029	-218	c.126 others(19): Show c.1263+3000_1263+3217del	PARPBP	ENSG00000185480.12	transcript	ENST00000327680.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
PARVB_chr22_44019302_44177939	44114792	GTAAGGCC others(211): Show GTAAGGCCCTGCACCAACACAGATGCATTGTTACTAACTAAGGCCCTGTA CCAACACAGATACATTGTTACTAGCTAAGGCCCTGCACCAACACAGATAC ATTGTTACTAAGTAAGGCCCTGTACCAACACAGATATATTGTTACTAACT AAGGCCCTGCACCAACACAGATACGTTGTTACTAAGTAAGGCCCTGCACC AACACAGATACATTGTTAC	G G	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	328	0.0030	-218	c.274 others(17): Show c.274-4222_274-4005del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCBP3_chr21_45638725_45947450	45814659	GGTGAGTG others(211): Show GGTGAGTGATGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGATGAGTGGTG AGTGATGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGT GGTGAGTGGTGAGTGGTGAGTGATGAGTGGTGAGTGAGTGGTGAGTGGTG AGTGAGTGGTGAGTGGTGAGTGAGTGGTGAATGATGAGTGAGTGGTGAGT GATGAGTGGTGACTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp1 HG03471.hp1 HG02280.hp1 HG02976.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0017 a0001c0001t0004g0022 a0001c0001t0015g0021 a0001c0001t0004g0017 a0001c0001t0004g0022 a0001c0001t0015g0021	3	288	0.0104	-218	c.-12 others(21): Show c.-125-35294_-125-35077del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK5_chr9_75885673_76367975	76097237	AGTGCATT others(211): Show AGTGCATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGT ATTTTTAGTAGAGACGGGG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01243.hp1 others(8): Show HG01069.hp1 HG01071.hp2 HG01243.hp1 HG01884.hp2 HG02622.hp1 HG02717.hp1 HG03195.hp2 HG03225.hp2 HG04228.hp2 NA18906.hp1 NA18991.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0018 a0026 a0037	a0001c0001 a0003c0010 a0004c0006 others(6): Show a0001c0001 a0003c0010 a0004c0006 a0004c0058 a0005c0066 a0018c0069 a0018c0089 a0026c0093 a0037c0040	a0001c0001t0027 a0001c0001t0035 a0003c0010t0054 others(7): Show a0001c0001t0027 a0001c0001t0035 a0003c0010t0054 a0004c0006t0012 a0004c0058t0012 a0005c0066t0002 a0018c0069t0003 a0018c0089t0003 a0026c0093t0004 a0037c0040t0015	a0001c0001t0027g0018 a0001c0001t0035g0104 a0003c0010t0054g0083 others(8): Show a0001c0001t0027g0018 a0001c0001t0035g0104 a0003c0010t0054g0083 a0004c0006t0012g0143 a0004c0006t0012g0145 a0004c0058t0012g0054 a0005c0066t0002g0016 a0018c0069t0003g0063 a0018c0089t0003g0099 a0026c0093t0004g0051 a0037c0040t0015g0165	11	164	0.0671	-218	c.110 others(19): Show c.1107+1147_1107+1364del	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRR7_chr5_177441814_177461286	177451563	ACCCTCAG others(211): Show ACCCTCAGGCAGGGAGCACCCTGTAGCCTGCTTCGGAGAGTGAGTGTGGA GCCCACCCTCAGGCAGGGAGCACCCTGTAGCCTGCTTCGGAGAGTGAGTG TGGAGCCCACCCTCAGGCAGGGAGCACCCTGTAGCCTGCTTCGGAGAGTG ACTGTGGTGCCCAGCCCTCAGGCAGGGAGCACCCTGTAGCCTGCTTCGGA GAGTGACTGTGGTGCCCAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp2 others(86): Show HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01952.hp2 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02165.hp1 HG02486.hp1 HG02559.hp2 HG02647.hp2 HG02683.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18949.hp1 NA18951.hp1 NA18962.hp1 NA18977.hp1 NA18980.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18999.hp2 NA19003.hp2 NA19010.hp1 NA19011.hp1 NA19055.hp1 NA19066.hp2 NA19079.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0019 a0001c0001t0005g0002 a0001c0001t0007g0029	89	320	0.2781	-218	c.-32 others(19): Show c.-324-2358_-324-2141del	PRR7	ENSG00000131188.12	transcript	ENST00000323249.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRR7_chr5_177441814_177461286	177451598	GAGAGTGA others(211): Show GAGAGTGAGTGTGGAGCCCACCCTCAGGCAGGGAGCACCCTGTAGCCTGC TTCGGAGAGTGAGTGTGGAGCCCACCCTCAGGCAGGGAGCACCCTGTAGC CTGCTTCGGAGAGTGACTGTGGTGCCCAGCCCTCAGGCAGGGAGCACCCT GTAGCCTGCTTCGGAGAGTGACTGTGGTGCCCAGCCCTCAGGCAGGGAGC ACCCTGTAGCCTGCTTCGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	329	0.0030	-218	c.-32 others(19): Show c.-324-2316_-324-2099del	PRR7	ENSG00000131188.12	transcript	ENST00000323249.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD3_chr8_18522303_19018703	18569633	TTTAAGTT others(211): Show TTTAAGTTTTCGGGTACATGTGCACATTGTGCAGGTTACTTACATACGTA TACATGTGCCATGCTGGTGCGCTGCACCCACTAACTCGTCATCTAGCATT AGGTATATCTCCCGATGCTATCCCTCCCCACTCCCCCGACCCCACAACAG TCCCCAGAGTGTGACATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTC AGTTCCCACCTATGAGTGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(195): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18981.hp1 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0013 others(27): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0023 a0001c0025 a0001c0027 a0002c0003 a0002c0005 a0002c0007 a0002c0011 a0002c0015 a0002c0029 a0002c0031 a0002c0032 a0003c0004 a0003c0008 a0004c0006 a0004c0009 a0004c0010 a0004c0021 a0005c0020 a0006c0012 a0007c0018 a0008c0034 a0009c0035 a0010c0026 a0011c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(125): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0078 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0022 a0001c0002t0032 a0001c0002t0038 a0001c0002t0048 a0001c0013t0001 a0001c0014t0013 a0001c0014t0020 a0001c0016t0001 a0001c0017t0005 a0001c0023t0015 a0001c0025t0023 a0001c0027t0037 a0002c0003t0001 a0002c0003t0004 a0002c0003t0007 a0002c0003t0009 a0002c0003t0010 a0002c0003t0011 a0002c0003t0013 a0002c0003t0014 a0002c0003t0018 a0002c0003t0034 a0002c0003t0040 a0002c0003t0044 a0002c0003t0067 a0002c0003t0071 a0002c0003t0084 a0002c0003t0085 a0002c0005t0001 a0002c0005t0007 a0002c0005t0070 a0002c0005t0075 a0002c0007t0002 a0002c0007t0017 a0002c0007t0027 a0002c0007t0030 a0002c0007t0031 a0002c0011t0002 a0002c0011t0020 a0002c0011t0036 a0002c0015t0001 a0002c0029t0017 a0002c0031t0023 a0002c0032t0046 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0003c0004t0008 a0003c0004t0011 a0003c0004t0013 a0003c0004t0014 a0003c0004t0027 a0003c0004t0035 a0003c0004t0041 a0003c0004t0045 a0003c0004t0051 a0003c0004t0077 a0003c0004t0080 a0003c0004t0082 a0003c0008t0003 a0003c0008t0007 a0003c0008t0011 a0004c0006t0001 a0004c0006t0004 a0004c0006t0005 a0004c0006t0014 a0004c0006t0079 a0004c0006t0083 a0004c0009t0003 a0004c0009t0009 a0004c0009t0076 a0004c0010t0002 a0004c0021t0001 a0005c0020t0059 a0006c0012t0010 a0006c0012t0033 a0007c0018t0056 a0008c0034t0001 a0009c0035t0025 a0010c0026t0028 a0011c0036t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0016 others(195): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0119 a0001c0001t0001g0142 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0002g0133 a0001c0001t0002g0147 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0197 a0001c0001t0003g0004 a0001c0001t0003g0132 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0195 a0001c0001t0004g0221 a0001c0001t0005g0113 a0001c0001t0006g0173 a0001c0001t0007g0102 a0001c0001t0007g0104 a0001c0001t0010g0068 a0001c0001t0014g0210 a0001c0001t0015g0169 a0001c0001t0015g0174 a0001c0001t0015g0190 a0001c0001t0017g0149 a0001c0001t0019g0186 a0001c0001t0022g0191 a0001c0001t0025g0146 a0001c0001t0026g0148 a0001c0001t0026g0161 a0001c0001t0028g0040 a0001c0001t0029g0045 a0001c0001t0029g0098 a0001c0001t0042g0158 a0001c0001t0043g0159 a0001c0001t0047g0090 a0001c0001t0049g0154 a0001c0001t0050g0178 a0001c0001t0052g0208 a0001c0001t0053g0032 a0001c0001t0054g0054 a0001c0001t0055g0167 a0001c0001t0057g0070 a0001c0001t0058g0008 a0001c0001t0060g0175 a0001c0001t0061g0091 a0001c0001t0063g0092 a0001c0001t0065g0010 a0001c0001t0066g0114 a0001c0001t0069g0018 a0001c0001t0072g0188 a0001c0001t0073g0022 a0001c0001t0074g0006 a0001c0001t0078g0218 a0001c0002t0001g0019 a0001c0002t0001g0031 a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0002t0001g0211 a0001c0002t0003g0213 a0001c0002t0008g0035 a0001c0002t0008g0108 a0001c0002t0009g0088 a0001c0002t0010g0039 a0001c0002t0017g0181 a0001c0002t0018g0048 a0001c0002t0018g0049 a0001c0002t0019g0183 a0001c0002t0019g0196 a0001c0002t0020g0192 a0001c0002t0022g0184 a0001c0002t0032g0209 a0001c0002t0038g0124 a0001c0002t0048g0026 a0001c0013t0001g0013 a0001c0013t0001g0101 a0001c0014t0013g0180 a0001c0014t0020g0179 a0001c0016t0001g0044 a0001c0016t0001g0077 a0001c0017t0005g0029 a0001c0017t0005g0030 a0001c0023t0015g0189 a0001c0025t0023g0162 a0001c0027t0037g0107 a0002c0003t0001g0046 a0002c0003t0001g0050 a0002c0003t0001g0053 a0002c0003t0001g0060 a0002c0003t0001g0062 a0002c0003t0001g0074 a0002c0003t0001g0089 a0002c0003t0001g0112 a0002c0003t0001g0116 a0002c0003t0004g0217 a0002c0003t0004g0222 a0002c0003t0007g0111 a0002c0003t0009g0017 a0002c0003t0010g0072 a0002c0003t0011g0099 a0002c0003t0013g0141 a0002c0003t0014g0164 a0002c0003t0018g0212 a0002c0003t0034g0042 a0002c0003t0040g0058 a0002c0003t0044g0121 a0002c0003t0067g0138 a0002c0003t0071g0110 a0002c0003t0084g0228 a0002c0003t0085g0227 a0002c0005t0001g0020 a0002c0005t0001g0063 a0002c0005t0001g0086 a0002c0005t0001g0137 a0002c0005t0007g0057 a0002c0005t0070g0059 a0002c0005t0075g0036 a0002c0007t0002g0135 a0002c0007t0002g0170 a0002c0007t0017g0117 a0002c0007t0027g0168 a0002c0007t0030g0165 a0002c0007t0031g0001 a0002c0011t0002g0122 a0002c0011t0020g0003 a0002c0011t0036g0160 a0002c0015t0001g0011 a0002c0015t0001g0129 a0002c0029t0017g0176 a0002c0031t0023g0193 a0002c0032t0046g0097 a0003c0004t0001g0014 a0003c0004t0001g0023 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0081 a0003c0004t0001g0083 a0003c0004t0001g0172 a0003c0004t0003g0093 a0003c0004t0004g0219 a0003c0004t0008g0109 a0003c0004t0011g0203 a0003c0004t0011g0204 a0003c0004t0013g0015 a0003c0004t0014g0139 a0003c0004t0027g0156 a0003c0004t0035g0021 a0003c0004t0041g0126 a0003c0004t0045g0082 a0003c0004t0051g0024 a0003c0004t0077g0106 a0003c0004t0080g0220 a0003c0004t0082g0215 a0003c0008t0003g0007 a0003c0008t0007g0128 a0003c0008t0011g0025 a0004c0006t0001g0041 a0004c0006t0001g0071 a0004c0006t0001g0105 a0004c0006t0004g0224 a0004c0006t0005g0009 a0004c0006t0014g0043 a0004c0006t0079g0216 a0004c0006t0083g0226 a0004c0009t0003g0123 a0004c0009t0009g0033 a0004c0009t0076g0155 a0004c0010t0002g0131 a0004c0010t0002g0145 a0004c0021t0001g0100 a0005c0020t0059g0214 a0006c0012t0010g0187 a0006c0012t0033g0194 a0007c0018t0056g0200 a0008c0034t0001g0064 a0009c0035t0025g0157 a0010c0026t0028g0125 a0011c0036t0001g0127	198	226	0.8761	-218	c.278 others(19): Show c.2784+2677_2784+2894del	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	14/15			chr8	TogoVar
RBFOX3_chr17_79084345_79616051	79570006	GTTATAGA others(211): Show GTTATAGATGGATGGTATATGAACAGATGAATTATGGATGGATGGTGAAT GGGCAGATGGATAGTAGAGAAGGAATGGACAGATGGATTATGGATGGATG GATAGGTAGATTATGGATGGTAGATGGATGAATGGCAAATGGACAGATGG ATAATAGATGGATGGTAGATGGATAGGTGGATTATAGATGGATAGTAGAT GGATGGATGGATAGATGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01106.hp1 HG02135.hp1 others(6): Show HG00558.hp1 HG01106.hp1 HG02135.hp1 HG02630.hp1 HG02976.hp1 HG03225.hp1 NA18945.hp2 NA18952.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0002t0002 a0001c0003t0004	a0001c0001t0001g0005 a0001c0001t0001g0060 a0001c0001t0002g0146 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0060 a0001c0001t0002g0146 a0001c0001t0003g0032 a0001c0001t0004g0123 a0001c0001t0013g0070 a0001c0002t0002g0139 a0001c0002t0002g0145 a0001c0003t0004g0151	9	152	0.0592	-218	c.-32 others(21): Show c.-320+40602_-320+40819del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RPH3AL_chr17_207389_357807	288641	TCGCACCC others(211): Show TCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTC CACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTC TCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTC TCTCCACCGTCAGACCTCG	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0053 a0001c0001t0012g0053	1	117	0.0085	-218	c.352 others(17): Show c.352-7005_352-6788del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SARDH_chr9_133658560_133743352	133668697	CCTCACCC others(211): Show CCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCC CTCTCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCT CTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCT CTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTC TCCCTCACCCTCCCTCTCT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0001 a0003c0028t0001	a0003c0028t0001g0087 a0003c0028t0001g0087	1	260	0.0038	-218	c.249 others(19): Show c.2495+1669_2496-1828del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1288302	TGCTCCGT others(211): Show TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0158 a0005c0011t0001g0158	1	276	0.0036	-218	c.166 others(17): Show c.1662+266_1662+483del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289955	TCTGCTCC others(211): Show TCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0158 a0005c0011t0001g0158	1	280	0.0036	-218	c.166 others(16): Show c.1663-303_1663-86del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDHA_chr5_213320_262082	257754	TGTGAGCT others(211): Show TGTGAGCTCCGCCCCTGCCAGAGCATTACCTTGTGAGCTCCACCCCCTGC CAGAGCATTACTGGGTGAGCTCCACCCCCTGCCAGAGCATTACTGTGTGA GCTCCGCCTCCTGCCATAGCATTACTGTGAGCTCCGCCTCCCGACAGCAT TACCGTGTGAGCTCCGCCCCCGTTAGAGCATTACTGTGTGAGCTCCACCC CCTGCCAGAGCATTACTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00738.hp1 others(14): Show HG00280.hp2 HG00323.hp2 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01517.hp2 HG01928.hp1 HG02683.hp1 HG02965.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0088 a0001c0001t0002g0007 a0001c0001t0002g0089 others(10): Show a0001c0001t0001g0088 a0001c0001t0002g0007 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099	17	264	0.0644	-218	c.13 others(11): Show c.1335_*1552del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		673		chr5	TogoVar
SHOX_chrX_625791_656584	628685	GTCTGTGT others(211): Show GTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTCT GTTTCTCTCTCTCTATCTGTCTGTCTCTCTCTTTTTCTCTCTCTATCTCT CCCTCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCT GTCTCTCCCTGTGTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGT GTTTCTCTATCTCCATCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01071.hp2 HG01081.hp1 others(24): Show HG00423.hp2 HG01071.hp2 HG01081.hp1 HG01169.hp1 HG01361.hp1 HG01361.hp2 HG01993.hp1 HG02080.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG04184.hp2 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18973.hp1 NA18993.hp1 NA19003.hp1 NA19054.hp2 NA19057.hp1 NA19076.hp1 NA19077.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(23): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0029 a0001c0001t0042 a0001c0001t0063 a0001c0001t0070 a0001c0001t0074 a0001c0001t0078 a0001c0001t0081 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0092 a0001c0001t0094 a0001c0001t0104 a0001c0001t0106 a0001c0001t0113 a0001c0001t0119 a0001c0001t0127 a0001c0001t0130 a0001c0001t0137 a0001c0001t0154 a0001c0001t0159 a0001c0001t0160	a0001c0001t0001g0085 a0001c0001t0004g0191 a0001c0001t0008g0142 others(24): Show a0001c0001t0001g0085 a0001c0001t0004g0191 a0001c0001t0008g0142 a0001c0001t0008g0165 a0001c0001t0014g0069 a0001c0001t0029g0138 a0001c0001t0042g0166 a0001c0001t0063g0149 a0001c0001t0070g0173 a0001c0001t0074g0031 a0001c0001t0078g0170 a0001c0001t0081g0175 a0001c0001t0088g0194 a0001c0001t0089g0099 a0001c0001t0090g0094 a0001c0001t0092g0176 a0001c0001t0094g0011 a0001c0001t0104g0195 a0001c0001t0106g0171 a0001c0001t0113g0177 a0001c0001t0119g0147 a0001c0001t0127g0180 a0001c0001t0130g0018 a0001c0001t0137g0193 a0001c0001t0154g0063 a0001c0001t0159g0113 a0001c0001t0160g0114	27	217	0.1244	-218	c.-22 others(11): Show c.-2212_-1995del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2105		chrX	TogoVar
SLC7A1_chr13_29504414_29600688	29558952	GGCAGAGT others(211): Show GGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAAT GTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGG GGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATGAGGGGGGAGTGAA TGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAG GGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0304 a0001c0002t0004g0304	1	308	0.0032	-218	c.-11 others(19): Show c.-114-5310_-114-5093del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar

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