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
SLFN12L_chr17_35459254_35542678	35530523	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19240.hp2 HG02559.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0049 a0005c0006t0046 a0001c0002t0049 a0005c0006t0046	a0001c0002t0049g0033 a0005c0006t0046g0032 a0001c0002t0049g0033 a0005c0006t0046g0032	2	350	0.0057	15	c.-60 others(34): Show c.-606+7049_-606+7050insCTTTCTTTCTTTCTT		SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4						chr17	TogoVar
SLFN12_chr17_35405922_35437500	35425838	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0080 a0002c0002t0002g0080	1	177	0.0056	15	c.-40 others(32): Show c.-40-2785_-40-2771dupAAAAAAAAAAAAAAA		SLFN12	ENSG00000172123.13	transcript	ENST00000304905.10	protein_coding	1/3						chr17	TogoVar
SLFN12_chr17_35405922_35437500	35434407	G G	GGAAGGAA others(8): Show GGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	383	0.0026	15	c.-22 others(26): Show c.-2261_-2260insTTCCTTCCTTCCTTC		SLFN12	ENSG00000172123.13	transcript	ENST00000304905.10	protein_coding					1908		chr17	TogoVar
SLFN13_chr17_35430096_35453766	35448042	A A	ATATTATT others(8): Show ATATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02602.hp2 HG02683.hp2 others(1): Show HG01358.hp1 HG02602.hp2 HG02683.hp2 NA18522.hp2	a0007 a0009 a0012 a0007 a0009 a0012	a0007c0007 a0009c0009 a0012c0013 a0007c0007 a0009c0009 a0012c0013	a0007c0007t0001 a0009c0009t0009 a0012c0013t0001 a0007c0007t0001 a0009c0009t0009 a0012c0013t0001	a0007c0007t0001g0109 a0009c0009t0009g0046 a0012c0013t0001g0110 a0007c0007t0001g0109 a0009c0009t0009g0046 a0012c0013t0001g0110	4	223	0.0179	15	c.-16 others(32): Show c.-160-643_-160-629dupATAATAATAATAATA		SLFN13	ENSG00000154760.14	transcript	ENST00000285013.11	protein_coding	1/5						chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561741	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18992.hp2 NA18983.hp1 NA18992.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0002 a0012c0017t0002	a0012c0017t0002g0041 a0012c0017t0002g0041	2	352	0.0057	15	c.-10 others(26): Show c.-1099_-1098insCTTTCTTTCTTTCTT		SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding					923		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561749	A A	AAAAAAAA others(8): Show AAAAAAAAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG04199.hp1 NA18747.hp1 others(2): Show HG03669.hp1 HG04199.hp1 NA18747.hp1 NA18984.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0024 a0002c0002 a0002c0024	a0002c0002t0003 a0002c0024t0003 a0002c0002t0003 a0002c0024t0003	a0002c0002t0003g0004 a0002c0024t0003g0131 a0002c0002t0003g0004 a0002c0024t0003g0131	5	284	0.0176	15	c.-11 others(26): Show c.-1107_-1106insCTTTCTTTTTTTTTT		SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding					931		chr17	TogoVar
SLIT1_chr10_96993038_97190959	97166569	G G	GAGAGAGA others(8): Show GAGAGAGAGAGAAGAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	95	0.0105	15	c.198 others(32): Show c.198-1680_198-1679insTTCTTCTCTCTCTCT		SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	1/36						chr10	TogoVar
SLIT1_chr10_96993038_97190959	97166623	G G	GAGAAAAG others(8): Show GAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp1 others(7): Show HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00597.hp2 HG03688.hp2 HG04204.hp2 HG06807.hp2 NA18960.hp1 NA19087.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001	a0001c0001t0001g0068 a0001c0001t0001g0154 a0001c0001t0001g0205 others(7): Show a0001c0001t0001g0068 a0001c0001t0001g0154 a0001c0001t0001g0205 a0001c0002t0001g0037 a0001c0002t0001g0181 a0001c0003t0001g0183 a0001c0003t0005g0184 a0001c0004t0001g0147 a0001c0004t0001g0210 a0001c0004t0001g0228	10	19	0.5263	15	c.198 others(32): Show c.198-1748_198-1734dupTTTCTTTTCTTTTCT		SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	1/36						chr10	TogoVar
SLIT2_chr4_20246905_20625561	20511587	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTATT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0018 a0001c0001t0078g0018	1	59	0.0169	15	c.105 others(32): Show c.1058+462_1058+463insATTTTTTTTTTTTTT		SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20511587	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00558.hp2 others(56): Show HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01361.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02083.hp2 HG02109.hp2 HG02165.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02738.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18952.hp2 NA18964.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19063.hp2 NA19078.hp2 NA19082.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0001c0022 a0001c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0032 a0001c0001t0047 a0001c0001t0071 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0014 a0001c0002t0016 a0001c0002t0024 a0001c0002t0034 a0001c0002t0038 a0001c0002t0044 a0001c0002t0045 a0001c0002t0062 a0001c0003t0001 a0001c0003t0006 a0001c0003t0028 a0001c0004t0041 a0001c0012t0077 a0001c0022t0012 a0001c0025t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 others(56): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0140 a0001c0001t0002g0074 a0001c0001t0003g0103 a0001c0001t0003g0230 a0001c0001t0004g0204 a0001c0001t0004g0213 a0001c0001t0005g0058 a0001c0001t0005g0063 a0001c0001t0008g0194 a0001c0001t0009g0146 a0001c0001t0010g0189 a0001c0001t0011g0016 a0001c0001t0011g0017 a0001c0001t0011g0022 a0001c0001t0013g0172 a0001c0001t0014g0185 a0001c0001t0015g0096 a0001c0001t0020g0095 a0001c0001t0021g0085 a0001c0001t0026g0029 a0001c0001t0032g0015 a0001c0001t0047g0068 a0001c0001t0071g0153 a0001c0002t0001g0051 a0001c0002t0001g0076 a0001c0002t0001g0109 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0002g0055 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0121 a0001c0002t0007g0176 a0001c0002t0008g0192 a0001c0002t0008g0212 a0001c0002t0014g0161 a0001c0002t0016g0048 a0001c0002t0024g0009 a0001c0002t0034g0190 a0001c0002t0038g0005 a0001c0002t0044g0003 a0001c0002t0045g0006 a0001c0002t0062g0020 a0001c0003t0001g0098 a0001c0003t0006g0100 a0001c0003t0028g0013 a0001c0004t0041g0073 a0001c0012t0077g0202 a0001c0022t0012g0198 a0001c0025t0001g0179	59	117	0.5043	15	c.105 others(32): Show c.1058+452_1058+466dupTTTTTTTTTTTTTTT		SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20518567	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	228	0.0044	15	c.105 others(32): Show c.1059-814_1059-800dupTATATATATATATAT		SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20518588	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG01255.hp2 others(1): Show HG00558.hp2 HG01106.hp1 HG01255.hp2 HG02132.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0018	a0001c0001t0009 a0001c0002t0002 a0001c0003t0050 others(1): Show a0001c0001t0009 a0001c0002t0002 a0001c0003t0050 a0004c0018t0005	a0001c0001t0009g0146 a0001c0002t0002g0077 a0001c0003t0050g0114 others(1): Show a0001c0001t0009g0146 a0001c0002t0002g0077 a0001c0003t0050g0114 a0004c0018t0005g0136	4	178	0.0225	15	c.105 others(32): Show c.1059-794_1059-793insATATATATATATATA		SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36						chr4	TogoVar
SLIT2_chr4_20246905_20625561	20605711	A A	ATATTTTA others(8): Show ATATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG03139.hp1 others(2): Show HG00639.hp1 HG01081.hp2 HG03139.hp1 HG03490.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0067 a0001c0001t0003 a0001c0001t0017 a0001c0001t0067	a0001c0001t0003g0091 a0001c0001t0003g0230 a0001c0001t0017g0184 others(2): Show a0001c0001t0003g0091 a0001c0001t0003g0230 a0001c0001t0017g0184 a0001c0001t0017g0221 a0001c0001t0067g0227	5	140	0.0357	15	c.369 others(34): Show c.3693-4265_3693-4251dupATTTTATTTTATTTT		SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	33/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168800954	G G	GTGCAGTG others(8): Show GTGCAGTGTGCTCACT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG01496.hp2 others(19): Show HG00735.hp2 HG01081.hp1 HG01496.hp2 HG02015.hp1 HG02055.hp2 HG02071.hp1 HG02129.hp2 HG02135.hp2 HG02615.hp1 HG02886.hp2 HG03209.hp2 HG03516.hp1 HG03834.hp1 HG03927.hp1 NA18970.hp1 NA18970.hp2 NA18989.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0013 a0015	a0001c0001 a0001c0009 a0001c0014 others(12): Show a0001c0001 a0001c0009 a0001c0014 a0001c0015 a0001c0020 a0001c0059 a0002c0002 a0002c0021 a0002c0029 a0002c0060 a0002c0061 a0002c0062 a0005c0063 a0013c0027 a0015c0028	a0001c0001t0001 a0001c0009t0001 a0001c0009t0003 others(17): Show a0001c0001t0001 a0001c0009t0001 a0001c0009t0003 a0001c0009t0012 a0001c0014t0002 a0001c0014t0009 a0001c0015t0006 a0001c0020t0001 a0001c0020t0003 a0001c0059t0004 a0002c0002t0005 a0002c0021t0002 a0002c0021t0025 a0002c0029t0005 a0002c0060t0001 a0002c0061t0011 a0002c0062t0029 a0005c0063t0002 a0013c0027t0010 a0015c0028t0006	a0001c0001t0001g0006 a0001c0009t0001g0057 a0001c0009t0001g0059 others(19): Show a0001c0001t0001g0006 a0001c0009t0001g0057 a0001c0009t0001g0059 a0001c0009t0003g0117 a0001c0009t0012g0035 a0001c0014t0002g0028 a0001c0014t0009g0112 a0001c0014t0009g0121 a0001c0015t0006g0070 a0001c0020t0001g0073 a0001c0020t0003g0109 a0001c0059t0004g0027 a0002c0002t0005g0082 a0002c0021t0002g0061 a0002c0021t0025g0056 a0002c0029t0005g0015 a0002c0060t0001g0058 a0002c0061t0011g0051 a0002c0062t0029g0032 a0005c0063t0002g0036 a0013c0027t0010g0125 a0015c0028t0006g0014	22	132	0.1667	15	c.936 others(32): Show c.936-5377_936-5376insAGTGAGCACACTGCA		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	9/35						chr5	TogoVar
SLIT3_chr5_168656740_169306139	168828658	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0004 a0001c0026t0004	a0001c0026t0004g0067 a0001c0026t0004g0067	1	40	0.0250	15	c.558 others(32): Show c.558-5328_558-5327insTTTTTTTTTTTTTTT		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	6/35						chr5	TogoVar
SLIT3_chr5_168656740_169306139	168857373	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	67	0.0149	15	c.486 others(34): Show c.486-12733_486-12719dupCAAAACAAAACAAAA		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	5/35						chr5	TogoVar
SLIT3_chr5_168656740_169306139	168901362	T T	TCAAAACA others(8): Show TCAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01433.hp2 HG01496.hp2 others(16): Show HG01167.hp1 HG01433.hp2 HG01496.hp2 HG02027.hp2 HG02071.hp1 HG02135.hp2 HG03017.hp1 HG03017.hp2 HG03834.hp2 NA18747.hp1 NA18957.hp2 NA18970.hp1 NA18974.hp2 NA18989.hp2 NA19005.hp2 NA19030.hp1 NA19060.hp2 NA19066.hp2 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0014 a0015	a0001c0001 a0001c0006 a0001c0014 others(10): Show a0001c0001 a0001c0006 a0001c0014 a0001c0059 a0002c0005 a0002c0008 a0002c0012 a0002c0060 a0003c0033 a0005c0063 a0008c0035 a0014c0064 a0015c0028	a0001c0001t0001 a0001c0001t0024 a0001c0006t0002 others(12): Show a0001c0001t0001 a0001c0001t0024 a0001c0006t0002 a0001c0014t0009 a0001c0059t0004 a0002c0005t0003 a0002c0008t0002 a0002c0012t0004 a0002c0012t0030 a0002c0060t0001 a0003c0033t0007 a0005c0063t0002 a0008c0035t0004 a0014c0064t0014 a0015c0028t0006	a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0041 others(16): Show a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0090 a0001c0001t0024g0069 a0001c0006t0002g0039 a0001c0014t0009g0112 a0001c0014t0009g0121 a0001c0059t0004g0027 a0002c0005t0003g0118 a0002c0008t0002g0017 a0002c0012t0004g0031 a0002c0012t0030g0077 a0002c0060t0001g0058 a0003c0033t0007g0108 a0005c0063t0002g0036 a0008c0035t0004g0049 a0014c0064t0014g0024 a0015c0028t0006g0014	19	97	0.1959	15	c.414 others(34): Show c.414-18041_414-18027dupTTTTGTTTTGTTTTG		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35						chr5	TogoVar
SLIT3_chr5_168656740_169306139	168904489	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0003 a0001c0020t0003	a0001c0020t0003g0109 a0001c0020t0003g0109	1	40	0.0250	15	c.414 others(34): Show c.414-21168_414-21154dupATTATTATTATTATT		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35						chr5	TogoVar
SLIT3_chr5_168656740_169306139	168967437	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0043 a0001c0006t0002g0043	1	10	0.1000	15	c.414 others(34): Show c.414-84116_414-84102dupAAAAAAAAAAAAAAA		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35						chr5	TogoVar
SLIT3_chr5_168656740_169306139	168998702	T T	TCAAAACA others(8): Show TCAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	86	0.0116	15	c.414 others(36): Show c.414-115381_414-115367dupTTTTGTTTTGTTTTG		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35						chr5	TogoVar
SLIT3_chr5_168656740_169306139	169002345	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0107 a0002c0002t0018g0107	1	130	0.0077	15	c.414 others(36): Show c.414-119010_414-119009insCTTTTTTTTTTTTTT		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35						chr5	TogoVar
SLIT3_chr5_168656740_169306139	169079634	G G	GGGAAGAG others(8): Show GGGAAGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0045 a0001c0003t0004g0045	1	132	0.0076	15	c.413 others(36): Show c.413+113830_413+113844dupTCCTCCTCCTCTTCC		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35						chr5	TogoVar
SLIT3_chr5_168656740_169306139	169079819	A A	AGGGAGGA others(8): Show AGGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0056 a0003c0056	a0003c0056t0001 a0003c0056t0001	a0003c0056t0001g0078 a0003c0056t0001g0078	1	3	0.3333	15	c.413 others(36): Show c.413+113659_413+113660insCCTCCTCCTCCTCCC		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35						chr5	TogoVar
SLIT3_chr5_168656740_169306139	169089019	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18989.hp2 HG02451.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0042 a0002c0060 a0001c0042 a0002c0060	a0001c0042t0032 a0002c0060t0001 a0001c0042t0032 a0002c0060t0001	a0001c0042t0032g0130 a0002c0060t0001g0058 a0001c0042t0032g0130 a0002c0060t0001g0058	2	10	0.2000	15	c.413 others(36): Show c.413+104445_413+104459dupTTTTTTTTTTTTTTT		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35						chr5	TogoVar
SLITRK3_chr3_165181720_165201384	165196912	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	412	0.0024	15	c.-13 others(26): Show c.-1369_-1355dupGAGAGAGAGAGAGAG		SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding					529		chr3	TogoVar
SLITRK4_chrX_143617790_143641101	143639947	C C	CAAAATAA others(8): Show CAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01069.hp1 others(54): Show HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01123.hp1 HG01175.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp1 HG02622.hp2 HG02809.hp1 HG03486.hp2 HG03516.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18977.hp1 NA18981.hp1 NA18993.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp1 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19087.hp2 NA19091.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0070 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0085 a0001c0001t0109 a0001c0002t0004 a0001c0002t0007 a0001c0003t0030	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0079 others(49): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0079 a0001c0001t0001g0110 a0001c0001t0001g0153 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0158 a0001c0001t0006g0027 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0006g0078 a0001c0001t0006g0102 a0001c0001t0006g0134 a0001c0001t0006g0145 a0001c0001t0009g0143 a0001c0001t0011g0069 a0001c0001t0014g0165 a0001c0001t0016g0031 a0001c0001t0016g0131 a0001c0001t0016g0144 a0001c0001t0016g0156 a0001c0001t0021g0062 a0001c0001t0021g0071 a0001c0001t0021g0074 a0001c0001t0023g0155 a0001c0001t0026g0100 a0001c0001t0026g0106 a0001c0001t0028g0133 a0001c0001t0034g0125 a0001c0001t0034g0152 a0001c0001t0035g0105 a0001c0001t0054g0063 a0001c0001t0055g0064 a0001c0001t0056g0126 a0001c0001t0057g0120 a0001c0001t0059g0118 a0001c0001t0060g0119 a0001c0001t0070g0127 a0001c0001t0073g0113 a0001c0001t0074g0111 a0001c0001t0075g0092 a0001c0001t0078g0115 a0001c0001t0079g0080 a0001c0001t0080g0123 a0001c0001t0081g0116 a0001c0001t0083g0178 a0001c0001t0085g0164 a0001c0001t0109g0224 a0001c0002t0004g0057 a0001c0002t0007g0023 a0001c0003t0030g0090	57	63	0.9048	15	c.-42 others(26): Show c.-4264_-4263insATTTTATTTTATTTT		SLITRK4	ENSG00000179542.16	transcript	ENST00000356928.2	protein_coding					3847		chrX	TogoVar
SLMAP_chr3_57751309_57935003	57853954	A A	AATTATAT others(8): Show AATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG02040.hp1 HG00735.hp2 HG01074.hp2 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0223 a0001c0002t0001g0254 a0001c0002t0001g0211 a0001c0002t0001g0223 a0001c0002t0001g0254	3	233	0.0129	15	c.520 others(32): Show c.520-3779_520-3778insATTATATATATATAT		SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	6/24						chr3	TogoVar
SLN_chr11_107702378_107717056	107714500	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00735.hp2 NA20300.hp1 HG00323.hp1 HG00735.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0003 a0001c0001t0001g0009	3	330	0.0091	15	c.-26 others(26): Show c.-2614_-2613insTTTTTTTTTTTTTTT		SLN	ENSG00000170290.4	transcript	ENST00000305991.3	protein_coding					2445		chr11	TogoVar
SLPI_chr20_45247239_45259564	45258285	T T	TTAGATAG others(8): Show TTAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	66	0.0152	15	c.-37 others(26): Show c.-3743_-3742insCTATCTATCTATCTA		SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding					3722		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02922.hp2 HG01175.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0221 a0001c0001t0001g0035 a0001c0001t0001g0221	2	32	0.0625	15	c.299 others(34): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTT		SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20						chr15	TogoVar
SLURP1_chr8_142735949_142747406	142741822	C C	CGTGGTCA others(8): Show CGTGGTCATGCAGGCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0014 a0002c0003t0001g0014	1	400	0.0025	15	c.144 others(22): Show c.144_158dupAGCCTGCATGACCAC	p.Thr others(26): Show p.Thr53_Leu54insAlaCysMetThrThr	SLURP1	ENSG00000126233.2	transcript	ENST00000246515.2	protein_coding	2/3	179/527	158/312	53/103			chr8	TogoVar
SLX1B_chr16_29449533_29463219	29450761	A A	AAATATAT others(8): Show AAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	49	0.0204	15	c.-39 others(26): Show c.-3982_-3981insAATATATATATATAT		SLX1B	ENSG00000181625.18	transcript	ENST00000330181.10	protein_coding					3771		chr16	TogoVar
SLX4IP_chr20_10430305_10633030	10452674	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03540.hp1 HG01081.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0228 a0001c0001t0022g0229 a0001c0001t0003g0228 a0001c0001t0022g0229	2	204	0.0098	15	c.-29 others(32): Show c.-29-5502_-29-5501insTATATATATATATAT		SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	1/7						chr20	TogoVar
SMAD1_chr4_145476853_145564176	145543545	C C	CAGCCTGA others(8): Show CAGCCTGAAGAACTTG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	306	0.0033	15	c.775 others(30): Show c.775+848_775+862dupAGCCTGAAGAACTTG		SMAD1	ENSG00000170365.10	transcript	ENST00000302085.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
SMAD2_chr18_47803957_47935659	47813711	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0184 a0001c0001t0115g0184	1	6	0.1667	15	c.28 others(28): Show c.28101_*28115dupAAAAAAAAAAAAAAA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11				28115		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03688.hp2 NA18945.hp1 others(3): Show HG02523.hp1 HG03688.hp2 NA18945.hp1 NA18974.hp1 NA18980.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0038 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0038 a0001c0001t0090 a0001c0001t0145	a0001c0001t0001g0299 a0001c0001t0005g0269 a0001c0001t0005g0286 others(3): Show a0001c0001t0001g0299 a0001c0001t0005g0269 a0001c0001t0005g0286 a0001c0001t0038g0264 a0001c0001t0090g0263 a0001c0001t0145g0242	6	45	0.1333	15	c.237 others(34): Show c.237-11492_237-11478dupAAAAAAAAAAAAAAA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10						chr18	TogoVar
SMAD3_chr15_67060602_67200169	67113095	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0036 a0001c0001t0009g0036	1	307	0.0033	15	c.206 others(34): Show c.206+46735_206+46736insATATATATATATATA		SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8						chr15	TogoVar
SMAD3_chr15_67060602_67200169	67177422	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0047 a0001c0001t0008g0047	1	2	0.5000	15	c.659 others(32): Show c.659-3806_659-3805insTTTTTTTTTTTTTTT		SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67183031	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0284 a0001c0001t0020g0284	1	125	0.0080	15	c.871 others(32): Show c.871+1579_871+1580insATATATATTTTTTTT		SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD4_chr18_51025213_51090042	51062851	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18955.hp2 HG06807.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0274 a0001c0001t0012g0234 a0001c0001t0005g0274 a0001c0001t0012g0234	2	125	0.0160	15	c.956 others(32): Show c.956-2562_956-2548dupTTTTTTTTTTTTTTT		SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD5_chr5_136127845_136187733	136176457	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0036 a0001c0001t0012g0036	1	112	0.0089	15	c.125 others(32): Show c.1255-868_1255-854dupAAAAAAAAAAAAAAA		SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
SMAD5_chr5_136127845_136187733	136183496	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01106.hp1 others(7): Show HG00639.hp2 HG00735.hp1 HG01106.hp1 HG01255.hp2 HG01891.hp1 HG01934.hp2 HG01981.hp2 HG02602.hp1 NA18970.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0017 a0001c0001t0003g0019 others(3): Show a0001c0001t0003g0004 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0073	10	122	0.0820	15	c.60 others(26): Show c.6016_*6017insAAAAAAAAAAAAAAA		SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding					764		chr5	TogoVar
SMAD6_chr15_66697236_66787849	66774833	A A	ATTTATTT others(8): Show ATTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02895.hp2 HG00609.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0116 a0001c0001t0003g0012 a0001c0001t0001g0116 a0001c0001t0003g0012	2	128	0.0156	15	c.953 others(32): Show c.953-6135_953-6121dupATTTTATTTTATTTT		SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD7_chr18_48914853_48955965	48941863	A A	ACGCATAC others(8): Show ACGCATACCTGTGAGC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18960.hp1 NA18982.hp2 others(2): Show NA18959.hp1 NA18960.hp1 NA18982.hp2 NA18993.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013	a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0029 others(2): Show a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0007g0025 a0001c0001t0013g0028	5	396	0.0126	15	c.742 others(30): Show c.742+603_742+617dupGCTCACAGGTATGCG		SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3						chr18	TogoVar
SMAGP_chr12_51239558_51275415	51268586	T T	TCCTCCCT others(8): Show TCCTCCCTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	60	0.0167	15	c.34+ others(28): Show c.34+658_34+659insGAGGGGGGAGGGAGG		SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3						chr12	TogoVar
SMAGP_chr12_51239558_51275415	51268586	T T	TCCTCCCT others(8): Show TCCTCCCTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(344): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0029 a0002c0003t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(301): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0265 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0344 a0001c0001t0002g0346 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0003g0004 a0001c0001t0003g0025 a0001c0001t0003g0195 a0001c0001t0003g0198 a0001c0001t0003g0204 a0001c0001t0003g0210 a0001c0001t0003g0260 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0288 a0001c0001t0003g0303 a0001c0001t0003g0312 a0001c0001t0003g0316 a0001c0001t0003g0320 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0331 a0001c0001t0003g0336 a0001c0001t0003g0339 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0345 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0037 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0105 a0001c0001t0004g0144 a0001c0001t0004g0154 a0001c0001t0004g0169 a0001c0001t0004g0174 a0001c0001t0004g0180 a0001c0001t0006g0192 a0001c0001t0006g0264 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0286 a0001c0001t0006g0300 a0001c0001t0008g0211 a0001c0001t0008g0212 a0001c0001t0008g0259 a0001c0001t0009g0272 a0001c0001t0011g0053 a0001c0001t0011g0145 a0001c0001t0011g0149 a0001c0001t0011g0163 a0001c0001t0011g0165 a0001c0001t0012g0018 a0001c0001t0012g0115 a0001c0001t0012g0127 a0001c0001t0012g0140 a0001c0001t0015g0271 a0001c0001t0015g0296 a0001c0001t0016g0350 a0001c0001t0017g0011 a0001c0001t0018g0137 a0001c0001t0018g0138 a0001c0001t0019g0175 a0001c0001t0019g0176 a0001c0001t0020g0185 a0001c0001t0021g0075 a0001c0001t0022g0143 a0001c0001t0023g0177 a0001c0001t0024g0167 a0001c0001t0025g0073 a0001c0001t0026g0129 a0001c0001t0027g0142 a0001c0001t0028g0261 a0001c0001t0030g0262 a0001c0001t0031g0206 a0001c0002t0005g0040 a0001c0002t0005g0041 a0001c0002t0005g0044 a0001c0002t0005g0045 a0001c0002t0005g0046 a0001c0002t0005g0047 a0001c0002t0005g0048 a0001c0002t0005g0049 a0001c0002t0005g0050 a0001c0002t0005g0051 a0001c0002t0005g0052 a0001c0002t0005g0054 a0001c0002t0005g0055 a0001c0002t0005g0061 a0001c0002t0010g0039 a0001c0002t0010g0043 a0001c0002t0010g0057 a0001c0002t0010g0060 a0001c0002t0010g0107 a0001c0002t0010g0183 a0001c0002t0013g0263 a0001c0002t0013g0269 a0001c0002t0013g0270 a0001c0002t0013g0273 a0001c0002t0013g0282 a0001c0002t0014g0038 a0001c0002t0014g0056 a0001c0002t0014g0059 a0001c0002t0014g0062 a0001c0002t0029g0254 a0002c0003t0002g0187	347	406	0.8547	15	c.34+ others(28): Show c.34+658_34+659insGAGGGAGGAGGGAGG		SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3						chr12	TogoVar
SMARCA1_chrX_129441506_129528490	129479653	A A	ATATTTTA others(8): Show ATATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp1 HG03486.hp2 others(1): Show HG02809.hp1 HG02976.hp1 HG03486.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0083 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0214	4	76	0.0526	15	c.244 others(34): Show c.2442+1033_2442+1047dupAAATAAAATAAAATA		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	19/24						chrX	TogoVar
SMARCA2_chr9_2010347_2198620	2176182	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0023 a0004c0014t0002g0023	1	187	0.0053	15	c.425 others(34): Show c.4254-5382_4254-5368dupTTTTTTTTTTTTTTT		SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33					INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	11064669	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02897.hp1 HG01261.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0206 a0001c0004t0001g0128 a0001c0003t0001g0206 a0001c0004t0001g0128	2	178	0.0112	15	c.28 others(26): Show c.2853_*2854insTTTTTTTTTTTTTTT		SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding					2397		chr19	TogoVar
SMARCB1_chr22_23781966_23843009	23799679	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp2 HG02080.hp2 others(10): Show HG00597.hp1 HG00642.hp2 HG02080.hp2 HG02523.hp1 HG02738.hp1 HG03669.hp2 HG04228.hp1 NA18939.hp1 NA18961.hp2 NA18979.hp2 NA19002.hp2 NA19011.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0026 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0026 a0001c0002t0003	a0001c0001t0004g0048 a0001c0001t0004g0050 a0001c0001t0004g0051 others(10): Show a0001c0001t0004g0048 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0067 a0001c0001t0004g0077 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0065 a0001c0001t0026g0074 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0276 a0001c0002t0003g0279	13	72	0.1806	15	c.363 others(32): Show c.363-1256_363-1242dupTTTTTTTTTTTTTTT		SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr22	TogoVar

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