Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LRRC24_chr8_144517388_144532033	144531353	AAGGGCAC others(118): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	398	0.0025	-125	c.-45 others(11): Show c.-4578_-4454del		LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding					4321		chr8	TogoVar
LRRIQ4_chr3_169807870_169842773	169808367	ATTCACCC others(118): Show ATTCACCCCACCCACAGAAGTTAAAGATCACTCTGGAGCCCAAGCTTGGG TACTCCTGGTCTAGTGCTCTTTCCTGAATACTATACCACCTCTAAGACCT ACTAACAGTGTTGCTCGTGTACTTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0027 a0003c0004t0001g0027	1	386	0.0026	-125	c.-47 others(11): Show c.-4710_-4586del		LRRIQ4	ENSG00000188306.7	transcript	ENST00000340806.7	protein_coding					4502		chr3	TogoVar
MDFIC2_chr3_70189479_70317638	70211252	TCTGCTTT others(118): Show TCTGCTTTTCTTTCTCCATTCCCTTCCCTTTGCCCTTCCCTTCCCTTCCC TTTGCCTTTCCCTTCCCTTTCCTTCCTTTCCCTTCCCTTCCTTTTGCCCT TCCCTTCCCTTTGCCCTTCCCTTCCC	T T	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0329 a0001c0001t0005g0329	1	370	0.0027	-125	c.89- others(15): Show c.89-4587_89-4463del		MDFIC2	ENSG00000242120.4	transcript	ENST00000567252.2	protein_coding	2/3						chr3	TogoVar
MEIOC_chr17_44651468_44680801	44671511	CTGCATGC others(118): Show CTGCATGCCAGCCTGGGACAGAGTGGGACCCTGTCTCAAAAAAAAAAAAA AAATTCATTTTATCTATACTTAGCAACATTATTTCATTAACAGAGGATTT TAAAATTACATTTTCGCCGGGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03579.hp1 HG01109.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0101 a0001c0001t0006g0104 a0001c0001t0006g0101 a0001c0001t0006g0104	2	352	0.0057	-125	c.245 others(19): Show c.2458-1852_2458-1728del		MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL21A_chr2_207607739_207630394	207610988	TGGCCAGT others(118): Show TGGCCAGTCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGAAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGCGGGGGGGGGGGGGGGGGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02622.hp2 HG02965.hp2 others(1): Show HG01243.hp1 HG02622.hp2 HG02965.hp2 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0024 a0002c0003t0001g0032 a0002c0003t0001g0024 a0002c0003t0001g0032	4	386	0.0104	-125	c.19 others(11): Show c.1933_*2057del		METTL21A	ENSG00000144401.14	transcript	ENST00000411432.6	protein_coding					1750		chr2	TogoVar
MMP16_chr8_88027011_88332483	88236752	CAACAACA others(118): Show CAACAACAAACAGAAGACCAGCCCTATGATCAAAGCTTTTCACCTTCTCT CACCTTGCGATGACTCACTTTTCAGAGCTGGGCCACTGCTCATCTCACCT GTTCCAACATTTACTCATCAGCTACA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp1 others(87): Show HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01261.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18943.hp2 NA18948.hp1 NA18949.hp1 NA18972.hp1 NA18973.hp1 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18999.hp2 NA19010.hp2 NA19043.hp1 NA19063.hp1 NA19063.hp2 NA19085.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0002c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0036 a0001c0001t0037 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0001t0052 a0001c0002t0002 a0001c0002t0031 a0001c0004t0011 a0001c0007t0051 a0001c0008t0054 a0002c0005t0003 a0003c0006t0001	a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0050 others(87): Show a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0002g0010 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0177 a0001c0001t0003g0022 a0001c0001t0003g0033 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0004g0092 a0001c0001t0004g0142 a0001c0001t0004g0169 a0001c0001t0005g0012 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0034 a0001c0001t0005g0067 a0001c0001t0005g0113 a0001c0001t0005g0174 a0001c0001t0006g0016 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0097 a0001c0001t0006g0159 a0001c0001t0007g0051 a0001c0001t0007g0052 a0001c0001t0007g0066 a0001c0001t0007g0156 a0001c0001t0007g0166 a0001c0001t0007g0171 a0001c0001t0008g0054 a0001c0001t0008g0086 a0001c0001t0008g0090 a0001c0001t0008g0136 a0001c0001t0009g0096 a0001c0001t0009g0099 a0001c0001t0010g0063 a0001c0001t0010g0073 a0001c0001t0011g0057 a0001c0001t0011g0058 a0001c0001t0013g0031 a0001c0001t0013g0125 a0001c0001t0014g0101 a0001c0001t0015g0024 a0001c0001t0016g0131 a0001c0001t0021g0044 a0001c0001t0025g0053 a0001c0001t0026g0158 a0001c0001t0027g0064 a0001c0001t0028g0105 a0001c0001t0032g0015 a0001c0001t0036g0175 a0001c0001t0037g0029 a0001c0001t0042g0056 a0001c0001t0045g0157 a0001c0001t0046g0106 a0001c0001t0048g0178 a0001c0001t0052g0003 a0001c0002t0002g0176 a0001c0002t0031g0084 a0001c0004t0011g0049 a0001c0007t0051g0018 a0001c0008t0054g0186 a0002c0005t0003g0107 a0003c0006t0001g0161	90	186	0.4839	-125	c.133 others(19): Show c.133-39571_133-39447del		MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	1/9						chr8	TogoVar
MPPED1_chr22_43407014_43512848	43470195	TCCATCTA others(118): Show TCCATCTATCCATTCATCCATCCATGTATGCATCTATATATCCATCCGTC TACAAAGCATCCATTCATCCATCTATTCATCTATCTATAAACCATCCATT CATCCATCCATTCATCCATAAACCAG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp1 HG01243.hp1 others(22): Show HG00673.hp2 HG01069.hp1 HG01243.hp1 HG01433.hp2 HG01496.hp2 HG02258.hp1 HG02895.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18945.hp2 NA18951.hp2 NA19060.hp1 NA19065.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0002t0007 a0001c0003t0002 a0001c0003t0011 a0001c0006t0005 a0001c0009t0002	a0001c0001t0001g0201 a0001c0001t0002g0025 a0001c0001t0002g0242 others(22): Show a0001c0001t0001g0201 a0001c0001t0002g0025 a0001c0001t0002g0242 a0001c0001t0003g0167 a0001c0001t0004g0243 a0001c0001t0006g0026 a0001c0001t0006g0084 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0189 a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0001t0009g0143 a0001c0001t0015g0207 a0001c0002t0007g0083 a0001c0002t0007g0107 a0001c0002t0007g0214 a0001c0003t0002g0241 a0001c0003t0011g0197 a0001c0003t0011g0238 a0001c0006t0005g0034 a0001c0006t0005g0035 a0001c0006t0005g0036 a0001c0006t0005g0038 a0001c0009t0002g0222	25	250	0.1000	-125	c.407 others(17): Show c.407-4499_407-4375del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MRM3_chr17_777353_797509	790633	CAGTGATT others(118): Show CAGTGATTGGCAGGCTCACCTGTGCCACCACACCCCCACCCGCTGATTGG CCAGCTCACCTCCTGTGCCACCACACCCCCCCACCCGCTGATTGGCCACC TCAACTGTGCCACCACACCCCCACCG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	440	0.0023	-125	c.728 others(15): Show c.728-900_728-776del		MRM3	ENSG00000171861.11	transcript	ENST00000304478.9	protein_coding	3/3						chr17	TogoVar
MRM3_chr17_777353_797509	790654	GTGCCACC others(118): Show GTGCCACCACACCCCCACCCGCTGATTGGCCAGCTCACCTCCTGTGCCAC CACACCCCCCCACCCGCTGATTGGCCACCTCAACTGTGCCACCACACCCC CACCGGCTGATTGGCTGGCTCACCTC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00597.hp2 others(127): Show HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0006 a0003c0003 others(1): Show a0001c0001 a0001c0006 a0003c0003 a0007c0013	a0001c0001t0001 a0001c0006t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0003c0003t0001 a0007c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0006t0001g0004 a0003c0003t0001g0041 a0007c0013t0001g0121	130	440	0.2955	-125	c.728 others(15): Show c.728-879_728-755del		MRM3	ENSG00000171861.11	transcript	ENST00000304478.9	protein_coding	3/3						chr17	TogoVar
MTA1_chr14_105414827_105475729	105459747	CCCTGGTC others(118): Show CCCTGGTCCCTGGGGAGCTGTGTGCCTGGGGGGAGTCCGTGCTGCCCGTG GCCCCTGGTCCCTGGTCCCTGGGGAGCTGTGTGCCTGGGGGGAGTCCGTG CTGCCCATGGCCCCTGGTCCCTGGCG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	304	0.0033	-125	c.654 others(15): Show c.654-605_654-481del		MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	8/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
MYOM2_chr8_2040046_2150456	2086153	CCCCCACT others(118): Show CCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTG GCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCG TGGCCCCACTGTCATGATCTCTGGCA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03139.hp2 HG03669.hp2 others(2): Show HG02080.hp2 HG03139.hp2 HG03669.hp2 NA19056.hp2 NA20805.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0009 a0022	a0001c0009 a0003c0001 a0006c0204 others(2): Show a0001c0009 a0003c0001 a0006c0204 a0009c0012 a0022c0027	a0001c0009t0002 a0003c0001t0003 a0006c0204t0002 others(2): Show a0001c0009t0002 a0003c0001t0003 a0006c0204t0002 a0009c0012t0001 a0022c0027t0001	a0001c0009t0002g0010 a0003c0001t0003g0340 a0006c0204t0002g0160 others(2): Show a0001c0009t0002g0010 a0003c0001t0003g0340 a0006c0204t0002g0160 a0009c0012t0001g0312 a0022c0027t0001g0091	5	403	0.0124	-125	c.164 others(17): Show c.1644+773_1644+897del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086172	TGCGTGGC others(118): Show TGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTC TTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATC TCTGGCACCCCACTGTCGTGATCTCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0051 a0051	a0051c0141 a0051c0141	a0051c0141t0001 a0051c0141t0001	a0051c0141t0001g0062 a0051c0141t0001g0062	1	403	0.0025	-125	c.164 others(17): Show c.1644+793_1644+917del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
NBPF4_chr1_108217464_108249076	108230228	TCTAATTG others(118): Show TCTAATTGTTTCATGAATCACTGTGATGCTAGAAAAGCATTTGCTTTTTT GAAACTCAGGGAGAAATGCAAAATGGGAAAGGGGCTGGTCCCAGTATGAA AGGCACTTGCAAGGTCAGTGTGTATC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	134	0.0075	-125	c.142 others(19): Show c.1424-1197_1424-1073del		NBPF4	ENSG00000196427.14	transcript	ENST00000415641.8	protein_coding	12/14						chr1	TogoVar
NEU4_chr2_241804193_241822413	241807525	ACCCTCCC others(118): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	319	0.0031	-125	c.-17 others(11): Show c.-1752_-1628del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1667		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807646	ACCCTCCC others(118): Show ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0140 a0002c0008t0002g0140	1	319	0.0031	-125	c.-16 others(11): Show c.-1631_-1507del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1546		chr2	TogoVar
NKAIN2_chr6_123798865_124830640	124210922	TACTCTTT others(118): Show TACTCTTTATTTACTTATCTTCTCTAATTGCCCTGGCAAGGATATCCAGT ACTATGTCAAATAAGTGTTGAAAGTGGGCATTCTTGTTTTATTCCAGATT TTAGAAGAAAGGCTTTCAATTTTTCA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19240.hp1 HG02615.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0033 a0001c0001t0006g0016 a0001c0001t0003g0033 a0001c0001t0006g0016	2	66	0.0303	-125	c.55- others(17): Show c.55-72082_55-71958del		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6						chr6	TogoVar
NKD2_chr5_1003802_1043943	1022665	TGTGGGCG others(118): Show TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTG TCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCC TTTGTCCCTGCTCTTCCCACCCGCTA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	319	0.0031	-125	c.142 others(17): Show c.142-9481_142-9357del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1022682	GTTGTCCC others(118): Show GTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCC TGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCC CACCCGCTAGTGGGTGTCCCAGCCCT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0114 a0001c0005t0011g0114	1	319	0.0031	-125	c.142 others(17): Show c.142-9445_142-9321del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
NPIPB11_chr16_29376310_29411711	29382084	GGGGAGTG others(118): Show GGGGAGTGAGCTGACGTTTGGAAGGTGTCTTGAGATTATCATCGGCTGAG GGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATC TGCTGAGGGTGGAGCTGAGGGTGGAA	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0117 a0117	a0117c0096 a0117c0096	a0117c0096t0027 a0117c0096t0027	a0117c0096t0027g0316 a0117c0096t0027g0316	1	428	0.0023	-125	c.272 others(9): Show c.2723_2847del	p.Leu others(5): Show p.Leu908fs	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5594/6369	2723/3486	908/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383062	ATCTTGAT others(118): Show ATCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGT GAGCTGACGCTCGGAAGGTCTCTTGAGATTATCATCCGCTGAGGGTGGAA GCGGAACTGCAGATGCTCGGCAGGTG	A A	frameshift_variant frameshift_variant	HIGH	HG02451.hp2 HG02451.hp2	a0073 a0073	a0073c0149 a0073c0149	a0073c0149t0002 a0073c0149t0002	a0073c0149t0002g0304 a0073c0149t0002g0304	1	428	0.0023	-125	c.174 others(9): Show c.1745_1869del	p.Thr others(5): Show p.Thr582fs	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4616/6369	1745/3486	582/1161			chr16	TogoVar
ODF3L2_chr19_458361_479983	473180	CCAGAGAT others(118): Show CCAGAGATACACGGTCACAGATGGGGAGACTGAGGCCTAGGCAGAGATAC ATGGTCACAGATGGGGAGACTGAGGCCTGAGCCTCCCAGAGATACACGGT CACAGATGGGGAAACTGAGGCCTAGG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp2 HG01884.hp1 others(33): Show HG00642.hp1 HG01243.hp2 HG01884.hp1 HG01993.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp1 HG03831.hp2 HG04184.hp2 NA18522.hp1 NA18940.hp1 NA18952.hp2 NA18995.hp1 NA19009.hp1 NA19030.hp2 NA19055.hp2 NA19070.hp1 NA19240.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0010 a0011 a0014 a0015	a0001c0002 a0001c0003 a0001c0007 others(8): Show a0001c0002 a0001c0003 a0001c0007 a0002c0001 a0004c0009 a0005c0008 a0006c0010 a0010c0025 a0011c0022 a0014c0020 a0015c0021	a0001c0002t0002 a0001c0003t0002 a0001c0007t0002 others(9): Show a0001c0002t0002 a0001c0003t0002 a0001c0007t0002 a0002c0001t0001 a0002c0001t0002 a0004c0009t0002 a0005c0008t0002 a0006c0010t0004 a0010c0025t0002 a0011c0022t0002 a0014c0020t0002 a0015c0021t0001	a0001c0002t0002g0059 a0001c0002t0002g0065 a0001c0003t0002g0009 others(19): Show a0001c0002t0002g0059 a0001c0002t0002g0065 a0001c0003t0002g0009 a0001c0003t0002g0051 a0001c0003t0002g0060 a0001c0007t0002g0027 a0002c0001t0001g0008 a0002c0001t0001g0061 a0002c0001t0002g0018 a0002c0001t0002g0026 a0002c0001t0002g0052 a0002c0001t0002g0054 a0004c0009t0002g0055 a0005c0008t0002g0005 a0005c0008t0002g0062 a0006c0010t0004g0056 a0006c0010t0004g0058 a0006c0010t0004g0064 a0010c0025t0002g0057 a0011c0022t0002g0063 a0014c0020t0002g0053 a0015c0021t0001g0050	36	324	0.1111	-125	c.128 others(15): Show c.128-804_128-680del		ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3						chr19	TogoVar
ODF3L2_chr19_458361_479983	473191	CGGTCACA others(118): Show CGGTCACAGATGGGGAGACTGAGGCCTAGGCAGAGATACATGGTCACAGA TGGGGAGACTGAGGCCTGAGCCTCCCAGAGATACACGGTCACAGATGGGG AAACTGAGGCCTAGGCAGAGATACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(206): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0012 a0013 a0016	a0001c0002 a0001c0003 a0001c0007 others(16): Show a0001c0002 a0001c0003 a0001c0007 a0001c0012 a0001c0015 a0001c0016 a0002c0001 a0002c0005 a0003c0004 a0004c0006 a0004c0009 a0006c0010 a0007c0011 a0008c0014 a0009c0019 a0009c0024 a0012c0018 a0013c0023 a0016c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(24): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0007t0002 a0001c0012t0001 a0001c0012t0002 a0001c0015t0002 a0001c0016t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0005t0001 a0003c0004t0001 a0003c0004t0002 a0004c0006t0001 a0004c0006t0002 a0004c0009t0002 a0006c0010t0004 a0007c0011t0001 a0008c0014t0006 a0008c0014t0007 a0009c0019t0002 a0009c0024t0002 a0012c0018t0008 a0013c0023t0001 a0016c0017t0002	a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0025 others(102): Show a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0025 a0001c0002t0001g0042 a0001c0002t0001g0047 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0164 a0001c0002t0001g0169 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0013 a0001c0002t0002g0020 a0001c0002t0002g0028 a0001c0002t0002g0044 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0125 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0003g0127 a0001c0003t0002g0109 a0001c0003t0002g0111 a0001c0003t0002g0145 a0001c0007t0002g0023 a0001c0007t0002g0143 a0001c0007t0002g0146 a0001c0012t0001g0176 a0001c0012t0002g0174 a0001c0012t0002g0175 a0001c0015t0002g0126 a0001c0015t0002g0128 a0001c0016t0002g0048 a0002c0001t0001g0001 a0002c0001t0001g0004 a0002c0001t0001g0029 a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0040 a0002c0001t0001g0041 a0002c0001t0001g0043 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0070 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0080 a0002c0001t0001g0081 a0002c0001t0001g0082 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0112 a0002c0001t0001g0113 a0002c0001t0001g0114 a0002c0001t0001g0116 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0124 a0002c0001t0001g0129 a0002c0001t0001g0156 a0002c0001t0001g0161 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0002g0017 a0002c0001t0005g0123 a0002c0005t0001g0007 a0002c0005t0001g0021 a0003c0004t0001g0014 a0003c0004t0001g0030 a0003c0004t0001g0069 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0079 a0003c0004t0001g0117 a0003c0004t0001g0118 a0003c0004t0002g0141 a0004c0006t0001g0158 a0004c0006t0001g0163 a0004c0006t0002g0036 a0004c0006t0002g0076 a0004c0006t0002g0101 a0004c0006t0002g0104 a0004c0009t0002g0110 a0006c0010t0004g0168 a0007c0011t0001g0115 a0008c0014t0006g0153 a0008c0014t0007g0147 a0009c0019t0002g0142 a0009c0024t0002g0144 a0012c0018t0008g0154 a0013c0023t0001g0162 a0016c0017t0002g0049	209	324	0.6451	-125	c.128 others(15): Show c.128-815_128-691del		ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3						chr19	TogoVar
P2RX5_chr17_3668227_3701155	3686375	CCCGCCCA others(118): Show CCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0117	1	362	0.0028	-125	c.981 others(17): Show c.981+1512_981+1636del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PCGF3_chr4_700832_775089	713221	CTTGTGGG others(118): Show CTTGTGGGTCCTGTGTGGCCTGGTGGGGGCTGTGGCTTCATGGGTCCTGT GTGGTCTGGTGGGGGCTGTGGCCTCATGGGGGCTGTAGCCTTGTGGGTCC TGTGTGGCCTGGTGGGGGCTGTGGCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00544.hp1 others(62): Show HG00099.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02683.hp2 HG02698.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18948.hp1 NA18962.hp2 NA18970.hp1 NA18971.hp2 NA18982.hp1 NA18990.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0035 a0001c0001t0038 a0001c0001t0047 a0001c0001t0050 a0001c0001t0052 a0001c0001t0059 a0001c0001t0064 a0002c0002t0003 a0002c0002t0007 a0002c0002t0045 a0002c0002t0046 a0002c0002t0048 a0002c0002t0049 a0002c0002t0051 a0002c0002t0053 a0003c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0052 others(62): Show a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0002g0013 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0065 a0001c0001t0004g0015 a0001c0001t0012g0008 a0001c0001t0012g0016 a0001c0001t0013g0012 a0001c0001t0014g0025 a0001c0001t0014g0026 a0001c0001t0014g0027 a0001c0001t0022g0011 a0001c0001t0022g0032 a0001c0001t0027g0009 a0001c0001t0028g0023 a0001c0001t0028g0024 a0001c0001t0033g0067 a0001c0001t0035g0046 a0001c0001t0038g0010 a0001c0001t0047g0022 a0001c0001t0050g0014 a0001c0001t0052g0037 a0001c0001t0059g0018 a0001c0001t0064g0028 a0002c0002t0003g0019 a0002c0002t0003g0021 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0048 a0002c0002t0003g0058 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0066 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0007g0049 a0002c0002t0045g0057 a0002c0002t0046g0005 a0002c0002t0048g0047 a0002c0002t0049g0030 a0002c0002t0051g0031 a0002c0002t0053g0059 a0003c0008t0001g0050	65	366	0.1776	-125	c.-19 others(19): Show c.-190+7268_-190+7392del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PERM1_chr1_970198_987093	977158	CACCAACC others(118): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCA ACCCCGGGAACCGCCTGCCCCCACCG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	408	0.0025	-125	c.215 others(17): Show c.2150-659_2150-535del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PEX5_chr12_7184686_7216459	7196921	AATAATTA others(118): Show AATAATTATATGTCACATATAATGTAATAATTATATGTCACATATAATGT AATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATATA ATGTAATTATATATGTCACATATAAT	A A	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	428	0.0023	-125	c.449 others(17): Show c.449-2089_449-1965del		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15						chr12	TogoVar
PEX5_chr12_7184686_7216459	7196922	ATAATTAT others(118): Show ATAATTATATGTCACATATAATGTAATAATTATATGTCACATATAATGTA ATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATATAA TGTAATTATATATGTCACATATAATG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18940.hp1 NA18966.hp1 others(9): Show HG02135.hp2 NA18940.hp1 NA18966.hp1 NA18971.hp2 NA18982.hp1 NA18988.hp2 NA19000.hp2 NA19056.hp2 NA19057.hp1 NA19072.hp2 NA19082.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0054 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0111 a0001c0001t0001g0152 a0001c0001t0018g0052	12	428	0.0280	-125	c.449 others(17): Show c.449-2079_449-1955del		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKFB3_chr10_6197932_6240532	6206478	AGACGGGG others(118): Show AGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGCTGACCCCCCCACCTCCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02280.hp1 others(9): Show HG02055.hp2 HG02257.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02818.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03471.hp1 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0079 a0001c0002t0004 a0001c0002t0014 a0001c0002t0039 a0001c0002t0081 a0001c0003t0001	a0001c0001t0002g0355 a0001c0001t0007g0351 a0001c0001t0007g0357 others(9): Show a0001c0001t0002g0355 a0001c0001t0007g0351 a0001c0001t0007g0357 a0001c0001t0008g0353 a0001c0001t0014g0348 a0001c0001t0079g0356 a0001c0002t0004g0349 a0001c0002t0014g0350 a0001c0002t0039g0354 a0001c0002t0039g0358 a0001c0002t0081g0359 a0001c0003t0001g0352	12	432	0.0278	-125	c.76+ others(15): Show c.76+3153_76+3277del		PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	CATGGCTT others(118): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01099.hp1 others(19): Show HG00735.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01169.hp1 HG01255.hp1 HG02523.hp1 HG02602.hp2 HG02738.hp2 HG03688.hp1 HG03710.hp1 HG04228.hp1 NA18941.hp1 NA18947.hp2 NA18955.hp2 NA18967.hp1 NA19005.hp1 NA19056.hp2 NA19081.hp2 NA19088.hp1 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 others(1): Show a0001c0001 a0001c0007 a0001c0009 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0007t0002 a0001c0009t0001 a0001c0017t0001	a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0083 others(17): Show a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0218 a0001c0001t0001g0239 a0001c0001t0002g0060 a0001c0001t0006g0274 a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0017g0081 a0001c0007t0002g0176 a0001c0007t0002g0189 a0001c0007t0002g0209 a0001c0009t0001g0131 a0001c0017t0001g0214	22	302	0.0729	-125	c.-84 others(17): Show c.-84-1297_-84-1173del		PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32						chr1	TogoVar
PKNOX2_chr11_125159751_125438389	125426489	CCAGCACG others(118): Show CCAGCACGGCCACTAGCTCTGCTCAAGAAACAAGTCTGCGTCTCCTTATT GTGCTAGTTCATTCCTCAGTTCACTACACAATCCTTCAACGTTGGCCTCT TTGCCTGTCTGCACACTGTGCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00558.hp2 others(51): Show HG00099.hp2 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01952.hp1 HG01993.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03540.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18971.hp1 NA18978.hp2 NA18981.hp2 NA18986.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19064.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0017 a0001c0006t0002 a0002c0002t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(51): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0160 a0001c0001t0002g0179 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0004g0086 a0001c0001t0005g0008 a0001c0001t0014g0198 a0001c0001t0017g0031 a0001c0006t0002g0074 a0002c0002t0002g0019 a0002c0002t0002g0038 a0002c0002t0002g0053 a0002c0002t0002g0089 a0002c0002t0002g0115 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0200	54	222	0.2432	-125	c.937 others(17): Show c.937-2396_937-2272del		PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402365	CGGCTCCA others(118): Show CGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGA CCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCC CGGACCCCGCTCACCCCCGACCCCCG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03540.hp1 HG03540.hp2 others(1): Show HG03471.hp2 HG03540.hp1 HG03540.hp2 NA21309.hp1	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0004 a0003c0019 a0016c0035 a0001c0004 a0003c0019 a0016c0035	a0001c0004t0001 a0003c0019t0001 a0016c0035t0001 a0001c0004t0001 a0003c0019t0001 a0016c0035t0001	a0001c0004t0001g0180 a0001c0004t0001g0200 a0003c0019t0001g0186 others(1): Show a0001c0004t0001g0180 a0001c0004t0001g0200 a0003c0019t0001g0186 a0016c0035t0001g0185	4	216	0.0185	-125	c.173 others(17): Show c.1738-711_1738-587del		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	977158	CACCAACC others(118): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCA ACCCCGGGAACCGCCTGCCCCCACCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 NA19067.hp2 HG02976.hp1 NA19067.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0003 a0009c0020t0033 a0009c0020t0003 a0009c0020t0033	a0009c0020t0003g0002 a0009c0020t0033g0107 a0009c0020t0003g0002 a0009c0020t0033g0107	2	422	0.0047	-125	c.25 others(11): Show c.2584_*2708del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1294		chr1	TogoVar
POMT1_chr9_131497918_131528799	131515704	AACACTTC others(118): Show AACACTTCCTCACACGGAGCACTTCCTGTAACAGGACACTTCCTCACACG GAGCACTTCCTCTAACATGGAGCACTTCCTGTAACACAGGACACTTCCTC ACACGGAGCACTTCCTCTAACACAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00639.hp2 others(6): Show HG00280.hp1 HG00323.hp1 HG00639.hp2 HG01243.hp1 HG01516.hp1 HG01517.hp1 HG02965.hp1 HG03239.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0009t0004 a0001c0001t0004 a0001c0009t0004	a0001c0001t0004g0008 a0001c0001t0004g0145 a0001c0001t0004g0157 others(2): Show a0001c0001t0004g0008 a0001c0001t0004g0145 a0001c0001t0004g0157 a0001c0009t0004g0152 a0001c0009t0004g0153	9	334	0.0270	-125	c.127 others(17): Show c.1272+209_1272+333del		POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
PPFIBP1_chr12_27519206_27700564	27558471	CACACACA others(118): Show CACACACACACACACACACACACACGATATTCTATATAGATCAAGAAATG TCTTACTTCTTTGTGGGCATTGGGGAAAATAGTTTAGGTATATATACTCT TCCTTCCTGCCCCCACCTCTCCACCA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp2 HG02055.hp1 others(13): Show HG00741.hp1 HG01891.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02965.hp2 HG03225.hp1 HG03516.hp2 NA18612.hp1 NA18981.hp2 NA19087.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0016t0001 a0004c0006t0022	a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0058 others(13): Show a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0002g0010 a0001c0001t0002g0055 a0001c0001t0006g0064 a0001c0001t0006g0087 a0001c0001t0007g0101 a0001c0001t0012g0063 a0001c0002t0001g0184 a0001c0002t0002g0084 a0001c0002t0004g0181 a0001c0002t0007g0122 a0001c0016t0001g0117 a0004c0006t0022g0115	16	314	0.0510	-125	c.-12 others(21): Show c.-123-19656_-123-19532del		PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr12	TogoVar
PRB3_chr12_11260914_11274707	11267401	GGTGGGGG others(118): Show GGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGG CTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGG GTGGTCCTTCTGGCTTTCCTGGACGA	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(22): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG01981.hp1 HG02083.hp2 HG02165.hp1 HG02735.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03942.hp2 HG04184.hp2 NA18747.hp2 NA18940.hp2 NA18963.hp2 NA18964.hp2 NA18977.hp2 NA18995.hp1 NA19054.hp2 NA19066.hp1 NA19067.hp2 NA19075.hp1 NA19084.hp1 NA19087.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0004 a0004c0004t0002 a0004c0004t0004	a0004c0004t0002g0005 a0004c0004t0002g0034 a0004c0004t0004g0036 a0004c0004t0002g0005 a0004c0004t0002g0034 a0004c0004t0004g0036	25	443	0.0564	-125	c.723 others(7): Show c.723_847del	p.Arg others(5): Show p.Arg242fs	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	885/1227	723/1056	241/351			chr12	TogoVar
PUM1_chr1_30926506_31070717	30972342	GGGAGGGG others(118): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGAAGAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	334	0.0030	-125	c.150 others(19): Show c.1506+2184_1506+2308del		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21						chr1	TogoVar
RAB40C_chr16_585066_634268	619274	GTGGTGTA others(118): Show GTGGTGTACTTGGAGCTGTGTGTGTGCACAGGTGTAGTGGGTGCACTCAG GGCCATGTGTGTGTGCAGCCATGTGCACAGGTCTGGCGGGGGCACTGGGG CCATGTGTGCAGTGTGTGTGCAGGTA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0020 a0001c0001t0032g0020	1	350	0.0029	-125	c.264 others(17): Show c.264+1020_264+1144del		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
RGSL1_chr1_182445146_182565597	182509313	GGGCTGAC others(118): Show GGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCAGACGGGGCGGCTGGCCGGGCAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18994.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0011 a0012 a0016 a0017	a0001c0001 a0001c0004 a0001c0005 others(15): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0017 a0002c0002 a0003c0024 a0004c0009 a0004c0012 a0005c0008 a0007c0013 a0008c0010 a0009c0020 a0011c0021 a0012c0019 a0016c0022 a0017c0023	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(17): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0017t0001 a0002c0002t0001 a0002c0002t0002 a0003c0024t0001 a0004c0009t0001 a0004c0012t0001 a0005c0008t0001 a0007c0013t0001 a0008c0010t0001 a0009c0020t0001 a0011c0021t0001 a0012c0019t0001 a0016c0022t0001 a0017c0023t0001	a0001c0001t0001g0006 a0001c0001t0001g0043 a0001c0001t0001g0048 others(210): Show a0001c0001t0001g0006 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0320 a0001c0004t0001g0023 a0001c0004t0001g0038 a0001c0004t0001g0040 a0001c0004t0001g0082 a0001c0004t0001g0092 a0001c0004t0001g0100 a0001c0004t0001g0105 a0001c0004t0001g0107 a0001c0004t0001g0111 a0001c0004t0001g0124 a0001c0004t0001g0125 a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0170 a0001c0004t0001g0177 a0001c0004t0001g0180 a0001c0004t0001g0183 a0001c0004t0001g0187 a0001c0004t0001g0188 a0001c0004t0001g0189 a0001c0004t0001g0192 a0001c0004t0001g0203 a0001c0004t0001g0214 a0001c0004t0001g0217 a0001c0004t0001g0230 a0001c0004t0001g0231 a0001c0004t0001g0232 a0001c0004t0001g0234 a0001c0004t0001g0252 a0001c0004t0001g0257 a0001c0004t0001g0270 a0001c0004t0001g0276 a0001c0004t0001g0279 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0004t0001g0284 a0001c0004t0001g0285 a0001c0004t0001g0286 a0001c0004t0001g0287 a0001c0004t0001g0312 a0001c0004t0001g0314 a0001c0004t0001g0315 a0001c0004t0001g0316 a0001c0004t0001g0317 a0001c0004t0001g0318 a0001c0004t0001g0319 a0001c0004t0001g0321 a0001c0004t0001g0323 a0001c0004t0001g0325 a0001c0004t0002g0019 a0001c0004t0002g0044 a0001c0004t0002g0054 a0001c0004t0002g0055 a0001c0004t0002g0123 a0001c0004t0002g0130 a0001c0004t0002g0163 a0001c0004t0002g0281 a0001c0005t0001g0010 a0001c0005t0001g0108 a0001c0005t0001g0112 a0001c0005t0001g0171 a0001c0005t0001g0268 a0001c0005t0001g0330 a0001c0006t0001g0173 a0001c0006t0001g0174 a0001c0006t0001g0208 a0001c0006t0001g0209 a0001c0006t0001g0210 a0001c0007t0001g0021 a0001c0007t0001g0022 a0001c0007t0001g0194 a0001c0007t0001g0212 a0001c0017t0001g0065 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0041 a0002c0002t0001g0045 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0106 a0002c0002t0001g0109 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0144 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0165 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0213 a0002c0002t0001g0219 a0002c0002t0001g0229 a0002c0002t0001g0235 a0002c0002t0001g0260 a0002c0002t0001g0275 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0300 a0002c0002t0001g0313 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0002g0288 a0002c0002t0002g0293 a0003c0024t0001g0104 a0004c0009t0001g0220 a0004c0009t0001g0221 a0004c0009t0001g0225 a0004c0012t0001g0222 a0004c0012t0001g0326 a0005c0008t0001g0013 a0005c0008t0001g0042 a0005c0008t0001g0080 a0007c0013t0001g0223 a0007c0013t0001g0224 a0008c0010t0001g0205 a0008c0010t0001g0206 a0009c0020t0001g0020 a0011c0021t0001g0164 a0012c0019t0001g0228 a0016c0022t0001g0073 a0017c0023t0001g0134	216	338	0.6391	-125	c.182 others(21): Show c.1826-12688_1826-12564del		RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
RMND1_chr6_151399762_151457126	151450361	GGTCAGCC others(118): Show GGTCAGCCCCCGCCAGGCCAGCCACCCCATCCGGGAGGGAGGTGGGGGTC AGCCCCCCGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGGCCA GCCCCCGTCCGGGAGGAAGGTGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0337 a0001c0001t0003g0337	1	392	0.0026	-125	c.-15 others(17): Show c.-15+1530_-15+1654del		RMND1	ENSG00000155906.20	transcript	ENST00000444024.3	protein_coding	1/11						chr6	TogoVar
RNF126_chr19_642526_668214	667322	CGGACCAC others(118): Show CGGACCACGTCCCAGGCGGACCAAGCCCAGGCGGACCACGTCCCAGGCGG ACCACGTCCCAGGCGGACCAAGCCCAGGTGGACCACGTCCCAGGCGGACC ACGTCCCAGGCGGACCAAGCCCAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	434	0.0023	-125	c.-43 others(11): Show c.-4326_-4202del		RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding					4109		chr19	TogoVar
RUVBL2_chr19_48988887_49020970	49011772	CTGCTGAA others(118): Show CTGCTGAAGCCTGGGAACCTCATCTCCCAGGTGTTGCCAGCACCCTGTGC ACGGGGAACTCTTAATGTTGTGTTTGGCCTGAGGATGCCGGGGACAGATT CCTGTGACACAGAGGGTACTGTGCTG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00673.hp1 others(55): Show HG00423.hp2 HG00558.hp1 HG00673.hp1 HG00738.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02135.hp2 HG02155.hp2 HG02280.hp1 HG02300.hp2 HG02735.hp1 HG03491.hp2 HG03688.hp2 HG03831.hp2 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18942.hp1 NA18945.hp2 NA18954.hp1 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA19004.hp2 NA19009.hp1 NA19011.hp1 NA19055.hp2 NA19062.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0364 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0084 a0001c0002t0001g0112 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0251 a0001c0002t0001g0357 a0001c0002t0001g0367 a0001c0002t0001g0382	58	412	0.1408	-125	c.100 others(17): Show c.1001+483_1001+607del		RUVBL2	ENSG00000183207.15	transcript	ENST00000595090.6	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
SBNO2_chr19_1102638_1179268	1137581	GTGGGGGG others(118): Show GTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGG TGCAGTGGGGGGAGGCTCGGGCTGGGGTGCAGTGGGGGGAGGCTCGGGCT GGGGTGCAGTGGGGGGAGGCTCAGGC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0015 a0001c0030t0001g0015	1	203	0.0049	-125	c.279 others(17): Show c.279+9603_279+9727del		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31						chr19	TogoVar
SBNO2_chr19_1102638_1179268	1137661	AGTGGGGG others(118): Show AGTGGGGGGAGGCTCGGGCTGGGGTGCAGTGGGGGGAGGCTCAGGCTGGG GGGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGCGG TGGGGGGAGGCTCGGGCTGGGGTGCG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0029 a0001c0007t0001g0029	1	203	0.0049	-125	c.279 others(17): Show c.279+9523_279+9647del		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31						chr19	TogoVar
SBNO2_chr19_1102638_1179268	1138037	GTGGGGGG others(118): Show GTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGG TGCGGTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCT GGGGTGCAGTGGGGGGAGGCTCAGGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03130.hp1 NA19043.hp2 HG01243.hp2 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0011 a0001c0006 a0001c0011	a0001c0006t0001 a0001c0006t0006 a0001c0011t0001 a0001c0006t0001 a0001c0006t0006 a0001c0011t0001	a0001c0006t0001g0056 a0001c0006t0006g0131 a0001c0011t0001g0060 a0001c0006t0001g0056 a0001c0006t0006g0131 a0001c0011t0001g0060	3	203	0.0148	-125	c.279 others(17): Show c.279+9147_279+9271del		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31						chr19	TogoVar
SCNN1G_chr16_23177745_23221883	23209292	TTCCTGTC others(118): Show TTCCTGTCCACTTCTTGACAAGACCAGCTCTTTCTTGCAGTTCCACGCTA AGCCAACAGGTCCCTTTTTCGGAAATACCTTCCCTAATCACTCTATGGGA AAAACTGCCCATCTGCTCTTAACGCC	T T	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0311 a0001c0002t0004g0311	1	320	0.0031	-125	c.107 others(17): Show c.1078-454_1078-330del		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SHC2_chr19_411589_466033	427573	ACAGGGAA others(118): Show ACAGGGAAGGGGGAACTGCACACGGCGCAGGGAAGGGGAATTGCGCACGG CACAGGTAAGGGGACAGGGGACGGCGCACAGCACACGGAAGGGGGCGGCA CAGGGAAGGGGGAACTGCACACGGCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01071.hp2 others(38): Show HG00423.hp2 HG00558.hp2 HG01071.hp2 HG01884.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02698.hp1 HG02698.hp2 HG03225.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18947.hp1 NA18954.hp1 NA18971.hp1 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp1 NA19009.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0005t0006	a0001c0001t0002g0079 a0001c0001t0003g0036 a0001c0001t0003g0071 others(36): Show a0001c0001t0002g0079 a0001c0001t0003g0036 a0001c0001t0003g0071 a0001c0001t0013g0073 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0107 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0003g0045 a0001c0002t0003g0085 a0001c0002t0003g0091 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0157 a0001c0002t0003g0173 a0001c0002t0004g0088 a0001c0002t0004g0096 a0001c0002t0004g0106 a0001c0002t0004g0156 a0001c0002t0004g0174 a0001c0002t0004g0175 a0001c0003t0002g0150 a0001c0005t0006g0010	41	212	0.1934	-125	c.117 others(19): Show c.1175-2467_1175-2343del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12						chr19	TogoVar
SHC2_chr19_411589_466033	457262	CTGTCTGC others(118): Show CTGTCTGCAAACCCCACCACATCAGGCCTTTGCACCTGCACCTGCTGTAC CCCCCCTAGATCTCTGTCTGCAAACCCACCATATCAGGCCTTTGCACCTG CACCTGCTGTGCCCCGTCTAGAACTA	C C	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	212	0.0047	-125	c.468 others(17): Show c.468+3142_468+3266del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SIGIRR_chr11_400716_419999	402365	CGGCTCCA others(118): Show CGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGA CCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCC CGGACCCCGCTCACCCCCGACCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03471.hp2 NA19240.hp2 HG03209.hp1 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0235 a0001c0001t0002g0036 a0001c0004t0001g0230 a0001c0001t0001g0235 a0001c0001t0002g0036 a0001c0004t0001g0230	3	242	0.0124	-125	c.34 others(11): Show c.3406_*3530del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3350		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1072281	GAGCCCCC others(118): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGTGAGCCCCCAGCACACTGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0114 a0001c0009t0002g0114	1	118	0.0085	-125	c.224 others(19): Show c.2241+1227_2241+1351del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1096689	GGGGAAGG others(118): Show GGGGAAGGGAGGGAAGGAAGGAGGGAGGAAGGAAAGGAGGGAGGGGGGAA GGGAGGGAAGGAAGGAGGGAGGAAGGAAAGGAGGGAGGGGGGGAGGGAGG GAAGGAAGGAGGGAGGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	118	0.0085	-125	c.125 others(17): Show c.125-2566_125-2442del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23						chr5	TogoVar

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