Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LMF1_chr16_848634_975984	902664	GGGTGACC others(132): Show GGGTGACCTCTGCACTGCCTGTGGGGACGCCCGTCTCTGCTGCGTGGTGG TGACCTCTGCACTGCCCACAGGACGCCTGTCTCTGCTGCGTGGTGGTGAC CTCTGCACTGCCCACAGGACTCCTGTCTCTGCTGTGTGGT	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0113 a0001c0005t0001g0113	1	294	0.0034	-139	c.663 others(17): Show c.663+8128_663+8266del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10						chr16	TogoVar
LMF1_chr16_848634_975984	903487	CTCTGCTG others(132): Show CTCTGCTGCGTGGTGGTGACCTCTGCACTGCCCGTGGGGACGCCTGTCTC TGCTGTGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCCGTCTCTGC TGCGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCTGT	C C	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0130 a0001c0005t0001g0130	1	294	0.0034	-139	c.663 others(17): Show c.663+7305_663+7443del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10						chr16	TogoVar
LMX1B_chr9_126608928_126706032	126672551	TAAATTGG others(132): Show TAAATTGGCTGCGAAGGGACAGGCACTGTGAGCCTGGAAGGGGGTTGTTA GGGATGGAAAGCCGGGGCCCAGGAATTTACAATCCGTTACTTGAGGGATG TCCTGCCTCCCTCTCGCCCCATTCAGGCCTTCTCAGACCC	T T	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	342	0.0029	-139	c.327 others(19): Show c.327-18283_327-18145del		LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
LOC400499_chr16_11367015_11532247	11493885	GGGGCAGT others(132): Show GGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGG CGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGC GGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18906.hp1 NA21309.hp1 HG02818.hp1 NA18906.hp1 NA21309.hp1	a0101 a0213 a0214 a0101 a0213 a0214	a0101c0067 a0213c0190 a0214c0191 a0101c0067 a0213c0190 a0214c0191	a0101c0067t0001 a0213c0190t0006 a0214c0191t0005 a0101c0067t0001 a0213c0190t0006 a0214c0191t0005	a0101c0067t0001g0304 a0213c0190t0006g0159 a0214c0191t0005g0158 a0101c0067t0001g0304 a0213c0190t0006g0159 a0214c0191t0005g0158	3	310	0.0097	-139	c.143 others(16): Show c.1432-228_1432-90del		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66						chr16	TogoVar
LRRC27_chr10_132327193_132386508	132358711	GGGGAGGA others(132): Show GGGGAGGAGCCAAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGG AGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGT GGTGGAGCGTGGGAAGGAGCCGAGCTGGTGGAGCAGCGTA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01192.hp2 HG02280.hp1 others(8): Show HG01069.hp1 HG01192.hp2 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 others(8): Show a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0183 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0249	11	290	0.0379	-139	c.117 others(19): Show c.1171-2735_1171-2597del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358788	GGAGTGTG others(132): Show GGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAGCTG GTGGAGCAGCGTAGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAG CCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01891.hp2 others(10): Show HG00323.hp2 HG00735.hp2 HG01891.hp2 HG02055.hp2 HG02280.hp2 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp2 HG03704.hp2 HG06807.hp2 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0001c0007 a0001c0011 others(2): Show a0001c0003 a0001c0007 a0001c0011 a0001c0013 a0008c0012	a0001c0003t0006 a0001c0003t0007 a0001c0007t0007 others(3): Show a0001c0003t0006 a0001c0003t0007 a0001c0007t0007 a0001c0011t0001 a0001c0013t0007 a0008c0012t0006	a0001c0003t0006g0082 a0001c0003t0006g0088 a0001c0003t0006g0089 others(10): Show a0001c0003t0006g0082 a0001c0003t0006g0088 a0001c0003t0006g0089 a0001c0003t0006g0090 a0001c0003t0006g0097 a0001c0003t0006g0100 a0001c0003t0006g0101 a0001c0003t0007g0092 a0001c0003t0007g0094 a0001c0007t0007g0001 a0001c0011t0001g0103 a0001c0013t0007g0081 a0008c0012t0006g0099	13	290	0.0448	-139	c.117 others(19): Show c.1171-2665_1171-2527del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358818	CGTGGGAA others(132): Show CGTGGGAAGGAGCCGAGCTGGTGGAGCAGCGTAGGGAGGAGCCGAGGTGG TGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGC CGAGGTGGTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG03209.hp2 HG01884.hp1 HG02647.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0023 a0001c0001t0008g0025 a0001c0001t0008g0020 a0001c0001t0008g0023 a0001c0001t0008g0025	3	290	0.0103	-139	c.117 others(19): Show c.1171-2638_1171-2500del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10						chr10	TogoVar
MAEA_chr4_1284891_1345137	1333727	TGCTCACC others(132): Show TGCTCACCTCTGCACCCACCCCATGCCCACCCCCATGCCCACCTGTGCTC ACCCCCATGCCCACTCCCGTGCCCATGTGCCCACCCCTGCACCCACCCCA TGCCCACCGTGTGCTCACCCCCCTGCCCACCCCCATGCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00733.hp1 others(21): Show HG00099.hp1 HG00423.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01257.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG02074.hp1 HG02148.hp2 HG02615.hp1 HG02723.hp2 HG02895.hp2 HG03017.hp1 HG03654.hp2 NA18986.hp2 NA18998.hp2 NA19056.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0301 a0001c0001t0001g0302 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0346 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0002t0001g0010	24	388	0.0619	-139	c.765 others(16): Show c.765+864_765+1002del		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MALRD1_chr10_19043801_19739478	19215716	AATAAATT others(132): Show AATAAATTAGTATAAATAATTTAGTATAAATAATAATTAGTATAAACAAA TAATTTAGTATAATTAGTATAAATAAATAGTATATTTATTTATATAAATA ATTAGTATAAATACATAATTTAGTATAAATAATAAAACTC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00642.hp1 others(54): Show HG00544.hp1 HG00544.hp2 HG00642.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01358.hp2 HG01975.hp2 HG01993.hp1 HG02071.hp1 HG02109.hp1 HG02132.hp2 HG02280.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02896.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG04228.hp1 HG06807.hp2 NA18947.hp1 NA18957.hp2 NA18960.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18981.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp2 NA19043.hp2 NA19088.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(42): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0012 a0019 a0021 a0025 a0026 a0027 a0028 a0038 a0042 a0043 a0047 a0058 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097	a0001c0001 a0001c0003 a0002c0028 others(45): Show a0001c0001 a0001c0003 a0002c0028 a0003c0002 a0004c0118 a0006c0004 a0006c0024 a0008c0006 a0009c0040 a0010c0014 a0012c0041 a0019c0009 a0021c0011 a0025c0013 a0026c0062 a0027c0019 a0028c0097 a0028c0098 a0038c0042 a0042c0090 a0043c0091 a0047c0036 a0058c0119 a0071c0121 a0072c0055 a0073c0031 a0074c0032 a0075c0030 a0076c0085 a0077c0086 a0078c0087 a0079c0088 a0080c0053 a0081c0084 a0082c0083 a0085c0048 a0086c0103 a0087c0105 a0088c0107 a0089c0106 a0090c0034 a0091c0104 a0092c0096 a0093c0099 a0094c0100 a0095c0033 a0096c0101 a0097c0102	a0001c0001t0001 a0001c0003t0001 a0002c0028t0001 others(45): Show a0001c0001t0001 a0001c0003t0001 a0002c0028t0001 a0003c0002t0001 a0004c0118t0001 a0006c0004t0001 a0006c0024t0001 a0008c0006t0001 a0009c0040t0002 a0010c0014t0001 a0012c0041t0004 a0019c0009t0002 a0021c0011t0002 a0025c0013t0001 a0026c0062t0001 a0027c0019t0002 a0028c0097t0001 a0028c0098t0001 a0038c0042t0001 a0042c0090t0001 a0043c0091t0002 a0047c0036t0001 a0058c0119t0001 a0071c0121t0002 a0072c0055t0001 a0073c0031t0001 a0074c0032t0001 a0075c0030t0001 a0076c0085t0001 a0077c0086t0002 a0078c0087t0003 a0079c0088t0001 a0080c0053t0001 a0081c0084t0001 a0082c0083t0001 a0085c0048t0002 a0086c0103t0001 a0087c0105t0001 a0088c0107t0002 a0089c0106t0001 a0090c0034t0003 a0091c0104t0001 a0092c0096t0001 a0093c0099t0001 a0094c0100t0001 a0095c0033t0001 a0096c0101t0001 a0097c0102t0001	a0001c0001t0001g0054 a0001c0003t0001g0114 a0001c0003t0001g0115 others(54): Show a0001c0001t0001g0054 a0001c0003t0001g0114 a0001c0003t0001g0115 a0002c0028t0001g0101 a0003c0002t0001g0029 a0003c0002t0001g0030 a0003c0002t0001g0046 a0003c0002t0001g0049 a0003c0002t0001g0119 a0004c0118t0001g0100 a0006c0004t0001g0026 a0006c0004t0001g0035 a0006c0024t0001g0127 a0008c0006t0001g0050 a0008c0006t0001g0051 a0009c0040t0002g0067 a0010c0014t0001g0008 a0012c0041t0004g0063 a0019c0009t0002g0070 a0019c0009t0002g0091 a0021c0011t0002g0018 a0025c0013t0001g0118 a0026c0062t0001g0111 a0027c0019t0002g0071 a0027c0019t0002g0072 a0028c0097t0001g0104 a0028c0098t0001g0040 a0038c0042t0001g0023 a0042c0090t0001g0128 a0043c0091t0002g0064 a0047c0036t0001g0006 a0058c0119t0001g0010 a0071c0121t0002g0078 a0072c0055t0001g0108 a0073c0031t0001g0136 a0074c0032t0001g0124 a0075c0030t0001g0125 a0076c0085t0001g0052 a0077c0086t0002g0074 a0078c0087t0003g0106 a0079c0088t0001g0013 a0080c0053t0001g0117 a0081c0084t0001g0044 a0082c0083t0001g0043 a0085c0048t0002g0087 a0086c0103t0001g0007 a0087c0105t0001g0047 a0088c0107t0002g0020 a0089c0106t0001g0042 a0090c0034t0003g0112 a0091c0104t0001g0016 a0092c0096t0001g0004 a0093c0099t0001g0048 a0094c0100t0001g0143 a0095c0033t0001g0103 a0096c0101t0001g0113 a0097c0102t0001g0098	57	152	0.3750	-139	c.299 others(19): Show c.2991+6049_2991+6187del		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MEF2A_chr15_99560984_99721488	99700040	AGTAGAGA others(132): Show AGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGA GCTCAACATCTGCCCGCCTCAGCCTCCCGAAGTGCTGGGATTACAGGCAT GAGCCACTGTGCCCAGCCAGACACATACGTATATATGTGT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0323 a0003c0003t0002g0323	1	376	0.0027	-139	c.859 others(17): Show c.859-3318_859-3180del		MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
MLPH_chr2_237482251_237560322	237543183	GACAGTGG others(132): Show GACAGTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTGAGTG GGCACAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAAT GGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0088 a0009c0011t0001g0088	1	286	0.0035	-139	c.153 others(17): Show c.1539+537_1539+675del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MUSK_chr9_110663791_110811558	110701652	ATTTATTT others(132): Show ATTTATTTTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp2 HG01884.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0006 a0002c0004t0018 a0001c0001t0006 a0002c0004t0018	a0001c0001t0006g0318 a0002c0004t0018g0147 a0001c0001t0006g0318 a0002c0004t0018g0147	2	326	0.0061	-139	c.628 others(17): Show c.628+4189_628+4327del		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MYOM2_chr8_2040046_2150456	2085955	CTTTGTGG others(132): Show CTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTG ATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGT CGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCG	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA21309.hp2 HG03654.hp2 NA21309.hp2	a0011 a0063 a0011 a0063	a0011c0182 a0063c0155 a0011c0182 a0063c0155	a0011c0182t0002 a0063c0155t0001 a0011c0182t0002 a0063c0155t0001	a0011c0182t0002g0069 a0063c0155t0001g0268 a0011c0182t0002g0069 a0063c0155t0001g0268	2	403	0.0050	-139	c.164 others(17): Show c.1644+567_1644+705del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
NBDY_chrX_56724243_56824179	56726008	CTATAACA others(132): Show CTATAACAATATTGTTATATATATGTATAACAAAATTGTTATATATATGT ATAACAATATATGTATAACAATATATGTTATATATATAACAATATATGTA TTGTTATATATATATAACAATATATGTATTGTTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01123.hp2 others(28): Show HG00642.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03834.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017	a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0038 others(28): Show a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0002g0029 a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0031 a0001c0001t0006g0033 a0001c0001t0017g0012	31	160	0.1938	-139	c.-33 others(11): Show c.-3345_-3207del		NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding					3234		chrX	TogoVar
NEU4_chr2_241804193_241822413	241805906	CCCCTCAG others(132): Show CCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	319	0.0031	-139	c.-33 others(11): Show c.-3371_-3233del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3286		chr2	TogoVar
NME7_chr1_169127531_169372797	169342815	ATAGTATA others(132): Show ATAGTATATATATATACAAGTACATATATATATAGTATATATATATACAA GTACATATATATAGTATATATACATATATACAAGTACATATATATAGTGT ATATATATATATACAAGTACATATATATACTTGTATTAGT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0295 a0001c0002t0001g0295	1	302	0.0033	-139	c.4-1 others(15): Show c.4-18454_4-18316del		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NPIPB11_chr16_29376310_29411711	29382145	CCCCCGCA others(132): Show CCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTG GAGCTGAGGGTGGAAGGGGAGTGAGCTGACGTTTGGAAGGTGTCTTGAGA TTATCATCCGCTGAGGGTGGAAGCGGAACCCACAGACGCT	C C	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG01074.hp1 HG01255.hp2 others(15): Show HG00423.hp2 HG01074.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG02071.hp1 HG02074.hp2 HG02145.hp1 HG02165.hp1 HG03688.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 NA19009.hp2 NA19054.hp2 NA19066.hp2 NA19077.hp1 NA19089.hp2	a0010 a0028 a0040 others(5): Show a0010 a0028 a0040 a0083 a0090 a0103 a0105 a0106	a0010c0009 a0010c0085 a0028c0026 others(6): Show a0010c0009 a0010c0085 a0028c0026 a0040c0037 a0083c0156 a0090c0066 a0103c0082 a0105c0084 a0106c0081	a0010c0009t0004 a0010c0009t0022 a0010c0085t0004 others(7): Show a0010c0009t0004 a0010c0009t0022 a0010c0085t0004 a0028c0026t0012 a0040c0037t0004 a0083c0156t0002 a0090c0066t0004 a0103c0082t0004 a0105c0084t0004 a0106c0081t0004	a0010c0009t0004g0002 a0010c0009t0004g0059 a0010c0009t0004g0062 others(12): Show a0010c0009t0004g0002 a0010c0009t0004g0059 a0010c0009t0004g0062 a0010c0009t0004g0064 a0010c0009t0022g0068 a0010c0085t0004g0067 a0028c0026t0012g0021 a0028c0026t0012g0388 a0040c0037t0004g0057 a0040c0037t0004g0065 a0083c0156t0002g0242 a0090c0066t0004g0061 a0103c0082t0004g0060 a0105c0084t0004g0066 a0106c0081t0004g0063	18	428	0.0421	-139	c.264 others(9): Show c.2648_2786del	p.Glu others(5): Show p.Glu883fs	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5533/6369	2648/3486	883/1161			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21835814	GGTGGAAG others(132): Show GGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATC CGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCCCCGCAGACGCTCGGCA GGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGT	G G	frameshift_variant frameshift_variant	HIGH	HG02630.hp2 HG02630.hp2	a0078 a0078	a0078c0048 a0078c0048	a0078c0048t0001 a0078c0048t0001	a0078c0048t0001g0009 a0078c0048t0001g0009	1	204	0.0049	-139	c.243 others(9): Show c.2434_2572del	p.Thr others(5): Show p.Thr812fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2787/4020	2434/3669	812/1222			chr16	TogoVar
OSBPL2_chr20_62233521_62301183	62278549	TTGTGTGT others(132): Show TTGTGTGTGTGTCTGTTGCCAACGTTAGGCCGAGTGCGATGTCATGTTTG TGTGTGTGTCTGTTGCCAATGTTAGGCCAAGTGCGATGTCATGTTTGTGT GTGTGTTGCCAACGTTAGGCCAAGTGCAATGTCATGTTTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01069.hp1 others(48): Show HG00323.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01891.hp1 HG01975.hp2 HG01993.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 NA18522.hp1 NA18966.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0002t0008 a0001c0006t0003 a0001c0007t0003 a0002c0003t0003	a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0003g0001 others(45): Show a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0006g0036 a0001c0001t0006g0043 a0001c0001t0023g0087 a0001c0002t0008g0221 a0001c0002t0008g0222 a0001c0002t0008g0223 a0001c0002t0008g0224 a0001c0002t0008g0225 a0001c0006t0003g0037 a0001c0007t0003g0001 a0002c0003t0003g0030 a0002c0003t0003g0032 a0002c0003t0003g0041	51	348	0.1466	-139	c.492 others(15): Show c.492-585_492-447del		OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
PACSIN2_chr22_42864773_43020149	42981830	TCAGCCCC others(132): Show TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGAT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02895.hp2 others(1): Show HG02055.hp1 HG02257.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185	4	294	0.0136	-139	c.-78 others(19): Show c.-78+33052_-78+33190del		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PAQR5_chr15_69293912_69412780	69300610	TTTCTTTC others(132): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCT TTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCA	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0006 a0001c0001t0014g0006	1	284	0.0035	-139	c.-27 others(19): Show c.-277+1563_-277+1701del		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD6G_chr18_80152232_80252514	80186343	GCATGCAC others(132): Show GCATGCACCCTCACACATGCTCGCACACCCACACATGCTCGCACACCCTC ACACATGCATGCACCCTCACACACGCATATGCCCTCACATATGCTTGCAC ACCCACACACGCATACACCCTCAAGGCTCGCACACCCTCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02818.hp2 others(5): Show HG01243.hp1 HG01891.hp1 HG02818.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG03453.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0008 a0001c0001t0010 a0001c0001t0026 others(1): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0026 a0002c0006t0028	a0001c0001t0008g0080 a0001c0001t0008g0085 a0001c0001t0010g0086 others(5): Show a0001c0001t0008g0080 a0001c0001t0008g0085 a0001c0001t0010g0086 a0001c0001t0010g0087 a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0026g0084 a0002c0006t0028g0081	8	382	0.0209	-139	c.295 others(19): Show c.295+16228_295+16366del		PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2						chr18	TogoVar
PDXK_chr21_43714129_43767299	43737520	GCGGGTGG others(132): Show GCGGGTGGACGGGTTGCGCTGTCCTGGCTTTCGGAGTGTAGAGCCAGAGG GGATGGGACAGGTGCCCTGCTGCTGGGCTTGGTGGTCCCTGCTGCAGGGA AGGGGCAGCTGGTGTGAACACAAGGAGCTGCGGGGCTGGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02896.hp2 HG01243.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0222 a0001c0001t0013g0223 a0001c0001t0013g0222 a0001c0001t0013g0223	2	358	0.0056	-139	c.142 others(17): Show c.142+3398_142+3536del		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10						chr21	TogoVar
PDXK_chr21_43714129_43767299	43741176	CGGGGGGC others(132): Show CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	358	0.0028	-139	c.143 others(15): Show c.143-473_143-335del		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PKP3_chr11_389209_409908	401060	CCCGCTCA others(132): Show CCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCTGCCCCGCTC ACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGG	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0117 a0001c0003t0001g0117	1	216	0.0046	-139	c.173 others(17): Show c.1737+358_1737+496del		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402452	GCCCCGCT others(132): Show GCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCAC CCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCC GACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCGA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0082 a0001c0005t0001g0082	1	216	0.0046	-139	c.173 others(17): Show c.1738-612_1738-474del		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
POSTN_chr13_37557585_37603768	37596561	CTATTGAG others(132): Show CTATTGAGATATTAACTATAATGATGAGCTTCCGTTATCACCTTGTGGAC CTCTGGGGATGGAGCATCTTGAACGGAGAATCACTGGATTAAATAAAGAG ATAAAACTCAAGTATTTTTTAACTTTAAACTTTGATGAAA	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	416	0.0024	-139	c.218 others(15): Show c.218+484_218+622del		POSTN	ENSG00000133110.15	transcript	ENST00000379747.9	protein_coding	2/22						chr13	TogoVar
PPP1CC_chr12_110714680_110747891	110723124	TTAAAATC others(132): Show TTAAAATCTACAAGAGCTTATTGTATCGAGTTACAATATGGGATGCATAT TGTAAGAGTTAAAAACCATGTATCCAACTCTACCAAAACCTAAGTACAGA AGCACAGAGATAAAAGACATTATGCAGGCTTTTTGATGGC	T T	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	338	0.0030	-139	c.524 others(15): Show c.524-568_524-430del		PPP1CC	ENSG00000186298.12	transcript	ENST00000335007.10	protein_coding	4/6						chr12	TogoVar
PPP6R2_chr22_50338327_50450090	50345171	GCCCCCTC others(132): Show GCCCCCTCCAGTCAGTTCCCCCCCAAGTCAGTGCCCCCTCCAGTCAGTTC CCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCTCCTC CAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0229 a0002c0004t0012g0230 a0002c0004t0012g0229 a0002c0004t0012g0230	2	340	0.0059	-139	c.-14 others(19): Show c.-148+1627_-148+1765del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM15_chr21_41793225_41884344	41806147	CCACCACC others(132): Show CCACCACCATCACCATCACCACCACCATCACCACCACCACCATCACCACC ACCACCATCACCATCACCATCACCATCACCACCATCACTACCACCATCAC CACCACCACCATCACCACCACCCATCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0334 a0001c0002t0002g0334	1	406	0.0025	-139	c.265 others(19): Show c.2653-1672_2653-1534del		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRDM15_chr21_41793225_41884344	41855951	TCCCTCCC others(132): Show TCCCTCCCTCCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTCC CTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCCT TCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18991.hp1 NA18983.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0009 a0001c0031t0020 a0001c0001t0009 a0001c0031t0020	a0001c0001t0009g0170 a0001c0031t0020g0126 a0001c0001t0009g0170 a0001c0031t0020g0126	2	406	0.0049	-139	c.285 others(17): Show c.285+1086_286-1134del		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23						chr21	TogoVar
PRIMA1_chr14_93713298_93793485	93722100	GGGGTGGT others(132): Show GGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGGTA GTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTG GTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAAT	G G	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	397	0.0025	-139	c.360 others(15): Show c.360-693_360-555del		PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4						chr14	TogoVar
PXDNL_chr8_51314577_51814445	51534514	AGTCCGGG others(132): Show AGTCCGGGAGGAGGTGGGGGGATCAGCCCCCACCGGCCAGCCGCCCCGTC CAGGAGGGAGGTGGGGGGGTCAGCCCGCCCGGCCAGCCGCCCCGTCCAGG AGGGAGGTGGGGGGATCAGCCCCCACTGGCCAGCCGCCCC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG01167.hp1 others(19): Show HG00438.hp1 HG00673.hp1 HG01167.hp1 HG01169.hp1 HG02257.hp2 HG02717.hp2 HG02735.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18747.hp1 NA18948.hp2 NA18979.hp1 NA19030.hp2 NA20129.hp2	a0001 a0003 a0009 others(7): Show a0001 a0003 a0009 a0011 a0015 a0016 a0019 a0024 a0025 a0026	a0001c0001 a0003c0003 a0003c0005 others(8): Show a0001c0001 a0003c0003 a0003c0005 a0009c0012 a0011c0017 a0015c0025 a0016c0010 a0019c0047 a0024c0026 a0025c0034 a0026c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0003t0001 a0003c0003t0002 a0003c0005t0001 a0003c0005t0003 a0009c0012t0001 a0011c0017t0001 a0015c0025t0001 a0016c0010t0002 a0019c0047t0001 a0024c0026t0003 a0025c0034t0002 a0026c0043t0003	a0001c0001t0001g0019 a0001c0001t0002g0095 a0001c0001t0002g0096 others(19): Show a0001c0001t0001g0019 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0003t0001g0051 a0003c0003t0001g0079 a0003c0003t0002g0107 a0003c0005t0001g0041 a0003c0005t0001g0070 a0003c0005t0003g0006 a0009c0012t0001g0038 a0011c0017t0001g0054 a0011c0017t0001g0075 a0015c0025t0001g0027 a0016c0010t0002g0094 a0016c0010t0002g0108 a0019c0047t0001g0074 a0024c0026t0003g0002 a0025c0034t0002g0122 a0026c0043t0003g0005	22	122	0.1803	-139	c.380 others(19): Show c.380+22187_380+22325del		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22						chr8	TogoVar
PXMP2_chr12_132682587_132709985	132694520	GCCCTTAG others(132): Show GCCCTTAGCCAGTTAGATAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCG CCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTT AGCTAGTTAGAGAGCTCCCTTGCCAGTTAGTTAGTGAGCT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0071 a0001c0005t0005g0071	1	350	0.0029	-139	c.237 others(17): Show c.237-1348_237-1210del		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB40C_chr16_585066_634268	612555	CACGGGAC others(132): Show CACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCC TGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTTGCCTGTAGAATCA AGAGCAGGGACAGCTGCCCTGGCCTGTAGCATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	350	0.0029	-139	c.143 others(17): Show c.143-4651_143-4513del		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
SAMD4A_chr14_54562128_54798312	54655960	GGTGAGGA others(132): Show GGTGAGGAAAGGAGTTAATACATGGAAAGTGCTTAAAATAGTGTTTGGCA TATAATAAATGGCAATAAATATTAAATATTAACATGTAATGTTAAATAAT ACTTAATATTATTACTAATATTACCAAGGAAGCTAGTTTT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	262	0.0038	-139	c.197 others(19): Show c.197-46098_197-45960del		SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr14	TogoVar
SCNN1D_chr1_1275436_1297025	1289843	CCGTGTCC others(132): Show CCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0156 a0005c0011t0001g0156	1	290	0.0035	-139	c.166 others(17): Show c.1663-426_1663-288del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43205770	ACCCACTC others(132): Show ACCCACTCACCACACACTCACCCCCACACACACCACACACCCACTCACCA CTCACCCCCACACACACCACACACCCACTCACCACTCACCCCCACACACA CCACACCCACCACACACCCCTCACCACAAACACCCCCACC	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01517.hp1 others(6): Show HG01256.hp2 HG01258.hp1 HG01517.hp1 HG01975.hp2 HG02622.hp1 HG02976.hp2 HG03130.hp1 HG03704.hp2 HG03831.hp1	a0001 a0001	a0001c0006 a0001c0044 a0001c0051 a0001c0006 a0001c0044 a0001c0051	a0001c0006t0011 a0001c0006t0015 a0001c0006t0019 others(3): Show a0001c0006t0011 a0001c0006t0015 a0001c0006t0019 a0001c0006t0086 a0001c0044t0035 a0001c0051t0015	a0001c0006t0011g0150 a0001c0006t0011g0198 a0001c0006t0011g0223 others(6): Show a0001c0006t0011g0150 a0001c0006t0011g0198 a0001c0006t0011g0223 a0001c0006t0015g0005 a0001c0006t0019g0067 a0001c0006t0019g0168 a0001c0006t0086g0272 a0001c0044t0035g0212 a0001c0051t0015g0013	9	280	0.0321	-139	c.281 others(19): Show c.2814+1625_2815-1622del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	21/21						chr22	TogoVar
SHLD2_chr10_87090206_87196465	87173064	GTTTCATT others(132): Show GTTTCATTCTTGTCACCCAGGCTGGAATGTAGTGGCATGATCTCTGCTCA CTGCAACCTCCTCAAGTTATTCTCCTGCCTCAGCCTCCCAAGTAAGTGGA ATTACAGGCATGTGCCGTCATGCCCAGCTTATTTTTGTAT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03041.hp2 HG02615.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0099 a0001c0001t0001g0100	2	340	0.0059	-139	c.196 others(19): Show c.1963+2094_1963+2232del		SHLD2	ENSG00000122376.12	transcript	ENST00000298786.5	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
SIGIRR_chr11_400716_419999	401070	CCCGGCCC others(132): Show CCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC GCCCCGCTCACCCCCGGCCCCGCTCACACCTGCCCCGCTCACACCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0109 a0001c0006t0001g0109	1	242	0.0041	-139	c.46 others(11): Show c.4687_*4825del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4645		chr11	TogoVar
SLC24A4_chr14_92318165_92506481	92436334	CACACCCA others(132): Show CACACCCATTCTATGGCTCGTTTTTGTTTCACAACAGCAGAATAGTTGTG GAAGTGACTATTTGGCCAGCAAAGCCTAAAATATTATCACCCCCATACCA CCAACTGTTTTTATAAATAAAGTTTTATTGGAACACTGCA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG02602.hp1 HG01099.hp1 HG01192.hp2 HG02602.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0007c0024 a0001c0002 a0001c0003 a0007c0024	a0001c0002t0018 a0001c0003t0050 a0007c0024t0001 a0001c0002t0018 a0001c0003t0050 a0007c0024t0001	a0001c0002t0018g0218 a0001c0003t0050g0226 a0007c0024t0001g0192 a0001c0002t0018g0218 a0001c0003t0050g0226 a0007c0024t0001g0192	3	282	0.0106	-139	c.318 others(17): Show c.318+2432_318+2570del		SLC24A4	ENSG00000140090.18	transcript	ENST00000532405.6	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr14	TogoVar
SLC39A14_chr8_22362278_22427736	22396391	GAGAGAGA others(132): Show GAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAGAGAGAG AGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp2 NA18995.hp2 HG01981.hp1 HG01981.hp2 NA18995.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0028 a0003c0001t0001 a0003c0001t0028	a0003c0001t0001g0127 a0003c0001t0001g0135 a0003c0001t0028g0137 a0003c0001t0001g0127 a0003c0001t0001g0135 a0003c0001t0028g0137	3	324	0.0093	-139	c.-15 others(17): Show c.-15-8304_-15-8166del		SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8						chr8	TogoVar
SLC7A1_chr13_29504414_29600688	29558533	GGGGGAGA others(132): Show GGGGGAGAGAATGTGAGTGATGGGGAGAGAATGTGAGTGGGGGGAGTGAA TGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAATGA GGGGGAGAGAATGTGAGTGAGCGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0177	1	330	0.0030	-139	c.-11 others(19): Show c.-114-4812_-114-4674del		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558692	AGGGGGAG others(132): Show AGGGGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAA TGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAG GGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATGAG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0290 a0001c0002t0004g0290	1	330	0.0030	-139	c.-11 others(19): Show c.-114-4971_-114-4833del		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558951	AGGCAGAG others(132): Show AGGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAA TGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAG GGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATGAG	A A	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0159 a0001c0002t0002g0159	1	330	0.0030	-139	c.-11 others(19): Show c.-114-5230_-114-5092del		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SMAD2_chr18_47803957_47935659	47850710	ATATATAT others(132): Show ATATATATATTATATATATTATGTATAATATATATTATATATTATATATA TATTATATACATTATGTATAATATATATTATATATTATATATATTATGTA TAATATATTATATATTATATATATTATGTATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03209.hp2 HG03225.hp2 HG02896.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0205 a0001c0001t0208 a0001c0001t0209 a0001c0001t0205 a0001c0001t0208 a0001c0001t0209	a0001c0001t0205g0120 a0001c0001t0208g0119 a0001c0001t0209g0121 a0001c0001t0205g0120 a0001c0001t0208g0119 a0001c0001t0209g0121	3	310	0.0097	-139	c.784 others(15): Show c.784+425_784+563del		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SPAG16_chr2_213279464_214415501	213980252	TATGTGTG others(132): Show TATGTGTGTATATATATTCTCTATATATATAGAATATATGTGTGTATATA TATTCTCTATATATATAGAATATATGTGTGTATATATATTCTCTATATAT ATAGAATATATGTGTGTATATATATTCTCTATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0004 a0008c0010t0001g0004	1	86	0.0116	-139	c.140 others(21): Show c.1401-33697_1401-33559del		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
STAC_chr3_36375504_36553007	36453627	GCGCCGCC others(132): Show GCGCCGCCCCCTGCTCCACGGCGCCCAATCCCATCGACCACCCAAGGGCT GAGGAGTGCTGGCGCAGGGCGCGGGACTGGCAGGCAGCTCCACCTGCAGC CCCGGTGCGGGATCCACTGGGTGAAGCCAGCTGGGCTCCT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(148): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18945.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18992.hp1 NA18995.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19077.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(147): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0002g0130 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0305 a0001c0001t0004g0071 a0001c0001t0004g0127 a0001c0001t0004g0144 a0001c0001t0004g0185 a0001c0001t0004g0199 a0001c0001t0004g0237 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0312 a0001c0001t0004g0314 a0001c0001t0007g0001 a0001c0001t0007g0211 a0001c0001t0009g0131 a0001c0001t0015g0081 a0001c0001t0019g0296 a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0011 a0001c0002t0003g0014 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0021 a0001c0002t0003g0023 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0005g0046 a0001c0002t0008g0006 a0001c0002t0008g0035 a0001c0009t0001g0122	151	316	0.4779	-139	c.388 others(18): Show c.388+9988_388+10126del		STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	2/10						chr3	TogoVar
STARD13_chr13_33098137_33290755	33177882	GGAAGGAA others(132): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	302	0.0033	-139	c.170 others(19): Show c.170-10399_170-10261del		STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13						chr13	TogoVar
TCF3_chr19_1604292_1657615	1628009	GCTCACAG others(132): Show GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0272 a0001c0002t0002g0272	1	352	0.0028	-139	c.299 others(15): Show c.299-722_299-584del		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar

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