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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMARCA4_chr19_10956030_11067273	11064669	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02896.hp1 others(4): Show HG02145.hp2 HG02258.hp1 HG02896.hp1 HG03041.hp2 NA18983.hp2 NA19084.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0008 a0001c0003 a0001c0004 a0001c0008	a0001c0003t0001 a0001c0004t0001 a0001c0008t0001 a0001c0003t0001 a0001c0004t0001 a0001c0008t0001	a0001c0003t0001g0203 a0001c0003t0001g0217 a0001c0003t0001g0258 others(4): Show a0001c0003t0001g0203 a0001c0003t0001g0217 a0001c0003t0001g0258 a0001c0004t0001g0138 a0001c0004t0001g0139 a0001c0004t0001g0163 a0001c0008t0001g0266	7	286	0.0245	18	c.28 others(29): Show c.2853_*2854insTTTTTTTTTTTTTTTTTT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding		2397		chr19	TogoVar
SMARCAD1_chr4_94202865_94296292	94275796	C C	CTTTTATT others(11): Show CTTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0035 a0001c0004t0001g0035	1	322	0.0031	18	c.180 others(35): Show c.1809-539_1809-538insATTTTATTTTATTTTTTT	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCB1_chr22_23781966_23843009	23799679	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0193 a0001c0002t0003g0193	1	363	0.0028	18	c.363 others(35): Show c.363-1259_363-1242dupTTTTTTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47600998	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	219	0.0046	18	c.304 others(37): Show c.3043+9050_3043+9067dupTCTCTCTCTCTCTCTCTC	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	26/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47633779	T T	TATACACA others(11): Show TATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02300.hp2 HG01099.hp2 HG02300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0009 a0001c0001t0001 a0005c0006t0009	a0001c0001t0001g0185 a0005c0006t0009g0079 a0001c0001t0001g0185 a0005c0006t0009g0079	2	219	0.0091	18	c.264 others(37): Show c.2646+1410_2646+1411insGTGTGTGTGTGTGTGTAT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	24/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47671197	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	219	0.0046	18	c.184 others(35): Show c.1840-481_1840-480insGTTTTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47747440	A A	AAAATATA others(11): Show AAAATATAAATATAAATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00673.hp1 others(54): Show HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp2 HG01109.hp2 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01884.hp2 HG01934.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02647.hp1 HG02735.hp1 HG02965.hp2 HG03139.hp1 HG03491.hp1 HG03516.hp2 HG03710.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18961.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19030.hp2 NA19043.hp2 NA19079.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA20300.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0010	a0001c0001 a0001c0002 a0001c0012 others(4): Show a0001c0001 a0001c0002 a0001c0012 a0003c0011 a0005c0006 a0007c0014 a0010c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0002 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0012t0002 a0003c0011t0002 a0005c0006t0009 a0007c0014t0002 a0010c0007t0001	a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0100 others(54): Show a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0001g0130 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0003g0027 a0001c0001t0012g0138 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0114 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0143 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0010g0103 a0001c0002t0013g0153 a0001c0002t0014g0219 a0001c0012t0002g0088 a0003c0011t0002g0161 a0005c0006t0009g0079 a0007c0014t0002g0218 a0010c0007t0001g0072	57	219	0.2603	18	c.316 others(35): Show c.316-1465_316-1448dupATATTTATATTTATATTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47749670	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0182 a0001c0001t0011g0182	1	219	0.0046	18	c.316 others(35): Show c.316-3695_316-3678dupGTGTGTGTGTGTGTGTGT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMARCC2_chr12_56157359_56194483	56167889	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03041.hp1 HG03130.hp1 others(3): Show HG02818.hp1 HG03041.hp1 HG03130.hp1 HG03453.hp2 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0002g0017 others(2): Show a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0002g0017 a0001c0001t0002g0042 a0001c0001t0002g0045	6	250	0.0240	18	c.285 others(35): Show c.2850+153_2850+170dupGTGTGTGTGTGTGTGTGT	SMARCC2	ENSG00000139613.12	transcript	ENST00000550164.6	protein_coding	26/28			chr12	TogoVar
SMARCD1_chr12_50080342_50105707	50086479	T T	TTGGTGGT others(11): Show TTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00642.hp2 others(61): Show HG00140.hp2 HG00544.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01934.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp1 HG02280.hp1 HG02523.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG03130.hp2 HG03239.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03942.hp2 NA18747.hp1 NA18952.hp2 NA18955.hp1 NA18963.hp1 NA18971.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19010.hp1 NA19066.hp1 NA19078.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0005c0005t0001 a0001c0001t0001 a0001c0001t0003 a0005c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0003g0049 a0005c0005t0001g0050	64	366	0.1749	18	c.365 others(33): Show c.365+136_366-120dupGGTGGTGGTGGTGGTGGT	SMARCD1	ENSG00000066117.15	transcript	ENST00000394963.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(42): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01175.hp1 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01928.hp1 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02155.hp1 HG02300.hp1 HG02615.hp2 HG03492.hp1 HG03516.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18948.hp1 NA18952.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18982.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA19000.hp1 NA19012.hp1 NA19062.hp1 NA19063.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0002c0007t0002	a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0050 others(41): Show a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0002g0004 a0001c0001t0002g0147 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0006g0127 a0001c0001t0009g0173 a0001c0001t0010g0198 a0001c0001t0013g0137 a0001c0001t0015g0048 a0002c0007t0002g0174	45	213	0.2113	18	c.125 others(35): Show c.1254+817_1254+834dupTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMC1B_chr22_45339063_45418599	45353893	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01255.hp1 HG02602.hp1 others(2): Show HG00639.hp2 HG01255.hp1 HG02602.hp1 NA18942.hp2 NA18971.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0011 a0002c0001t0002g0077 a0002c0001t0002g0111 others(1): Show a0002c0001t0002g0011 a0002c0001t0002g0077 a0002c0001t0002g0111 a0002c0001t0002g0112	5	360	0.0139	18	c.327 others(33): Show c.3273+67_3273+84dupTTTTTTTTTTTTTTTTTT	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	21/24			chr22	TogoVar
SMC2_chr9_104089309_104146419	104135210	C C	CAGATGAT others(11): Show CAGATGATGCAAGTAGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(133): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp2 NA18947.hp2 NA18954.hp2 NA18959.hp2 NA18965.hp1 NA18966.hp1 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19066.hp1 NA19074.hp1 NA19076.hp2 NA19078.hp2 NA19086.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0007 a0001c0008 others(5): Show a0001c0001 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0002c0005 a0003c0004 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0007t0001 a0001c0008t0015 a0001c0011t0002 a0001c0012t0005 a0002c0005t0002 a0003c0004t0009 a0003c0004t0025 a0006c0010t0002	a0001c0001t0001g0122 a0001c0001t0002g0002 a0001c0001t0002g0003 others(83): Show a0001c0001t0001g0122 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0003g0004 a0001c0001t0003g0018 a0001c0001t0003g0031 a0001c0001t0003g0058 a0001c0001t0003g0073 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0110 a0001c0001t0005g0007 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0060 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0115 a0001c0001t0007g0010 a0001c0001t0007g0094 a0001c0001t0007g0100 a0001c0001t0007g0109 a0001c0001t0016g0025 a0001c0001t0019g0159 a0001c0001t0026g0014 a0001c0001t0028g0116 a0001c0001t0029g0104 a0001c0001t0030g0091 a0001c0001t0031g0083 a0001c0001t0032g0007 a0001c0001t0033g0061 a0001c0001t0034g0003 a0001c0001t0035g0101 a0001c0001t0036g0066 a0001c0007t0001g0041 a0001c0007t0001g0042 a0001c0008t0015g0113 a0001c0008t0015g0114 a0001c0011t0002g0112 a0001c0012t0005g0062 a0002c0005t0002g0015 a0002c0005t0002g0105 a0003c0004t0009g0024 a0003c0004t0009g0040 a0003c0004t0025g0072 a0006c0010t0002g0057	136	278	0.4892	18	c.326 others(35): Show c.3269+637_3269+654dupGATGATGCAAGTAGGAGA	SMC2	ENSG00000136824.19	transcript	ENST00000374793.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC2_chr9_104089309_104146419	104135210	C C	CAGATGAT others(11): Show CAGATGATGTAAGTAGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02132.hp2 HG02280.hp2 others(26): Show HG01891.hp2 HG02132.hp2 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18945.hp1 NA18951.hp2 NA18961.hp2 NA19004.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0006 a0001c0003 a0005c0006	a0001c0003t0004 a0001c0003t0008 a0001c0003t0013 others(3): Show a0001c0003t0004 a0001c0003t0008 a0001c0003t0013 a0001c0003t0017 a0001c0003t0027 a0005c0006t0012	a0001c0003t0004g0006 a0001c0003t0004g0013 a0001c0003t0004g0022 others(18): Show a0001c0003t0004g0006 a0001c0003t0004g0013 a0001c0003t0004g0022 a0001c0003t0004g0023 a0001c0003t0004g0037 a0001c0003t0004g0051 a0001c0003t0004g0052 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0004g0055 a0001c0003t0008g0043 a0001c0003t0008g0044 a0001c0003t0008g0045 a0001c0003t0008g0046 a0001c0003t0008g0047 a0001c0003t0013g0048 a0001c0003t0013g0050 a0001c0003t0017g0049 a0001c0003t0027g0056 a0005c0006t0012g0038 a0005c0006t0012g0039	29	278	0.1043	18	c.326 others(35): Show c.3269+643_3269+644insTAAGTAGGAGAGATGATG	SMC2	ENSG00000136824.19	transcript	ENST00000374793.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC3_chr10_110562695_110611048	110607292	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01496.hp2 others(7): Show HG01256.hp1 HG01258.hp1 HG01496.hp2 HG02135.hp2 HG02145.hp2 HG02300.hp1 HG03239.hp1 HG03710.hp1 HG03834.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0002g0121 a0001c0001t0002g0132 a0001c0001t0002g0177 others(5): Show a0001c0001t0002g0121 a0001c0001t0002g0132 a0001c0001t0002g0177 a0001c0001t0005g0016 a0001c0001t0005g0183 a0001c0001t0005g0185 a0001c0001t0005g0187 a0001c0001t0009g0193	10	328	0.0305	18	c.29 others(29): Show c.2990_*2991insAAAAAAAAAAAAAAAAAA	SMC3	ENSG00000108055.11	transcript	ENST00000361804.5	protein_coding		1245		chr10	TogoVar
SMC4_chr3_160394650_160439953	160425022	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02074.hp1 HG02129.hp1 others(5): Show HG02055.hp1 HG02074.hp1 HG02129.hp1 HG02922.hp2 HG03927.hp2 NA18969.hp1 NA18994.hp2 NA19084.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0007 a0007c0009 a0001c0001 a0006c0007 a0007c0009	a0001c0001t0002 a0006c0007t0002 a0007c0009t0002 a0001c0001t0002 a0006c0007t0002 a0007c0009t0002	a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0098 others(5): Show a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0002g0194 a0006c0007t0002g0105 a0006c0007t0002g0110 a0007c0009t0002g0095	8	332	0.0241	18	c.247 others(33): Show c.2478+17_2478+34dupGTGTGTGTGTGTGTGTGT	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMC4_chr3_160394650_160439953	160430179	T T	TAAGGAGG others(11): Show TAAGGAGGTAATAAGGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(168): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19002.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0001c0014 others(15): Show a0001c0001 a0001c0005 a0001c0014 a0001c0015 a0001c0020 a0002c0002 a0002c0008 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0007c0009 a0009c0011 a0010c0016 a0011c0010 a0012c0023 a0013c0021 a0014c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0005t0003 a0001c0005t0017 a0001c0014t0002 a0001c0015t0002 a0001c0020t0003 a0002c0002t0005 a0002c0008t0005 a0003c0003t0002 a0004c0004t0002 a0005c0006t0004 a0006c0007t0002 a0007c0009t0002 a0009c0011t0002 a0010c0016t0006 a0011c0010t0004 a0012c0023t0002 a0013c0021t0002 a0014c0018t0003	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0009 others(118): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0129 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0024 a0001c0001t0003g0028 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0191 a0001c0001t0004g0008 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0065 a0001c0001t0004g0067 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0006g0023 a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0007g0006 a0001c0001t0007g0042 a0001c0001t0010g0022 a0001c0001t0010g0044 a0001c0001t0011g0066 a0001c0001t0012g0197 a0001c0001t0015g0200 a0001c0001t0016g0081 a0001c0001t0018g0128 a0001c0005t0003g0029 a0001c0005t0003g0123 a0001c0005t0017g0029 a0001c0014t0002g0002 a0001c0015t0002g0088 a0001c0020t0003g0048 a0002c0002t0005g0030 a0002c0002t0005g0130 a0002c0002t0005g0131 a0002c0002t0005g0132 a0002c0002t0005g0133 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0008t0005g0134 a0002c0008t0005g0135 a0003c0003t0002g0027 a0003c0003t0002g0074 a0003c0003t0002g0080 a0003c0003t0002g0106 a0003c0003t0002g0195 a0004c0004t0002g0002 a0004c0004t0002g0061 a0004c0004t0002g0097 a0005c0006t0004g0008 a0005c0006t0004g0063 a0005c0006t0004g0064 a0006c0007t0002g0105 a0006c0007t0002g0110 a0007c0009t0002g0095 a0009c0011t0002g0093 a0010c0016t0006g0050 a0011c0010t0004g0068 a0012c0023t0002g0073 a0013c0021t0002g0087 a0014c0018t0003g0003	171	332	0.5151	18	c.279 others(35): Show c.2796-416_2796-399dupGAGGTAATAAGGGAGAAG	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMC6_chr2_17658812_17758810	17739879	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0240 a0001c0001t0005g0240	1	254	0.0039	18	c.239 others(35): Show c.239-1571_239-1554dupGTGTGTGTGTGTGTGTGT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	4/27			chr2	TogoVar
SMC6_chr2_17658812_17758810	17753324	T T	TGGGGACG others(11): Show TGGGGACGGCCGCCTGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01109.hp2 others(23): Show HG00735.hp2 HG01109.hp1 HG01109.hp2 HG01516.hp1 HG01981.hp1 HG02004.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0003c0002	a0001c0001t0001 a0001c0001t0007 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0005t0001 a0002c0003t0001 a0003c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0007g0006 a0001c0005t0001g0021 a0002c0003t0001g0144 a0002c0003t0001g0145 a0003c0002t0001g0009 a0003c0002t0001g0189 a0003c0002t0001g0190 a0003c0002t0001g0191 a0003c0002t0001g0192	26	254	0.1024	18	c.-92 others(33): Show c.-92-278_-92-261dupTCCCAGGCGGCCGTCCCC	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	1/27			chr2	TogoVar
SMCHD1_chr18_2650726_2810017	2677148	C C	CTTTAGTA others(11): Show CTTTAGTATTTTATTCTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(55): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG03041.hp2 HG03239.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18951.hp1 NA18952.hp2 NA18962.hp2 NA18972.hp2 NA18974.hp2 NA19003.hp1 NA19012.hp1 NA19043.hp1 NA19058.hp1 NA19062.hp2 NA19066.hp1 NA19081.hp1 NA20129.hp1 NA20752.hp2	a0001 a0015 a0017 a0001 a0015 a0017	a0001c0002 a0001c0004 a0015c0022 others(1): Show a0001c0002 a0001c0004 a0015c0022 a0017c0028	a0001c0002t0001 a0001c0002t0003 a0001c0002t0015 others(6): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0015 a0001c0002t0018 a0001c0002t0036 a0001c0002t0037 a0001c0004t0001 a0015c0022t0001 a0017c0028t0022	a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 others(55): Show a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0208 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0177 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0003g0190 a0001c0002t0003g0197 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0205 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0015g0191 a0001c0002t0018g0187 a0001c0002t0018g0204 a0001c0002t0018g0207 a0001c0002t0036g0206 a0001c0002t0037g0198 a0001c0004t0001g0182 a0001c0004t0001g0189 a0015c0022t0001g0193 a0017c0028t0022g0203	58	340	0.1706	18	c.638 others(35): Show c.638+3003_638+3004insTTTAGTATTTTATTCTGT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47			chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2679480	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02647.hp2 HG02922.hp1 others(4): Show HG01243.hp2 HG02647.hp2 HG02922.hp1 HG03579.hp2 HG03654.hp2 NA18972.hp1 NA19083.hp1	a0001 a0020 a0001 a0020	a0001c0004 a0020c0026 a0001c0004 a0020c0026	a0001c0004t0002 a0020c0026t0048 a0001c0004t0002 a0020c0026t0048	a0001c0004t0002g0116 a0001c0004t0002g0119 a0001c0004t0002g0120 others(4): Show a0001c0004t0002g0116 a0001c0004t0002g0119 a0001c0004t0002g0120 a0001c0004t0002g0135 a0001c0004t0002g0138 a0001c0004t0002g0152 a0020c0026t0048g0123	7	340	0.0206	18	c.638 others(35): Show c.638+5337_638+5354dupAAAAAAAAAAAAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2684700	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01070.hp1 others(31): Show HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01515.hp1 HG02083.hp2 HG02129.hp2 HG02280.hp2 HG02523.hp2 HG03579.hp2 HG03654.hp2 HG06807.hp1 NA18941.hp1 NA18957.hp2 NA18965.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA19002.hp1 NA19010.hp2 NA19012.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19077.hp1 NA19077.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0004 a0002c0006 a0003c0003 others(3): Show a0001c0004 a0002c0006 a0003c0003 a0003c0011 a0005c0013 a0005c0014	a0001c0004t0002 a0001c0004t0005 a0001c0004t0012 others(7): Show a0001c0004t0002 a0001c0004t0005 a0001c0004t0012 a0002c0006t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0041 a0003c0011t0005 a0005c0013t0004 a0005c0014t0004	a0001c0004t0002g0069 a0001c0004t0002g0095 a0001c0004t0002g0116 others(31): Show a0001c0004t0002g0069 a0001c0004t0002g0095 a0001c0004t0002g0116 a0001c0004t0002g0135 a0001c0004t0005g0078 a0001c0004t0005g0093 a0001c0004t0012g0055 a0001c0004t0012g0056 a0001c0004t0012g0105 a0002c0006t0002g0114 a0002c0006t0002g0115 a0002c0006t0002g0117 a0002c0006t0002g0124 a0002c0006t0002g0125 a0002c0006t0002g0126 a0002c0006t0002g0129 a0003c0003t0004g0034 a0003c0003t0004g0044 a0003c0003t0004g0067 a0003c0003t0004g0127 a0003c0003t0004g0140 a0003c0003t0005g0065 a0003c0003t0005g0082 a0003c0003t0005g0085 a0003c0003t0005g0099 a0003c0003t0005g0111 a0003c0003t0005g0121 a0003c0003t0041g0084 a0003c0011t0005g0250 a0003c0011t0005g0251 a0005c0013t0004g0094 a0005c0013t0004g0139 a0005c0014t0004g0051 a0005c0014t0004g0092	34	340	0.1000	18	c.639 others(35): Show c.639-3678_639-3661dupTGTGTGTGTGTGTGTGTG	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708867	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03942.hp2 HG03098.hp1 HG03942.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0021 a0002c0001t0029 a0002c0001t0021 a0002c0001t0029	a0002c0001t0021g0247 a0002c0001t0029g0338 a0002c0001t0021g0247 a0002c0001t0029g0338	2	340	0.0059	18	c.226 others(35): Show c.2260+971_2260+988dupTATATATATATATATATA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(11): Show TATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18945.hp1 NA19076.hp2 HG01192.hp2 NA18945.hp1 NA19076.hp2	a0003 a0004 a0019 a0003 a0004 a0019	a0003c0003 a0004c0008 a0019c0034 a0003c0003 a0004c0008 a0019c0034	a0003c0003t0006 a0004c0008t0011 a0019c0034t0006 a0003c0003t0006 a0004c0008t0011 a0019c0034t0006	a0003c0003t0006g0132 a0004c0008t0011g0221 a0019c0034t0006g0102 a0003c0003t0006g0132 a0004c0008t0011g0221 a0019c0034t0006g0102	3	340	0.0088	18	c.226 others(35): Show c.2260+988_2260+989insTATATATATATATAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01258.hp1 HG02129.hp1 others(12): Show HG01109.hp1 HG01258.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02717.hp1 HG03041.hp1 HG03225.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp1 NA18612.hp2 NA18983.hp2 NA19030.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0004 a0001c0005 a0001c0007 others(5): Show a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0002c0001 a0003c0036 a0004c0008 a0012c0027	a0001c0004t0002 a0001c0005t0001 a0001c0005t0009 others(8): Show a0001c0004t0002 a0001c0005t0001 a0001c0005t0009 a0001c0005t0020 a0001c0007t0004 a0001c0009t0001 a0002c0001t0001 a0002c0001t0014 a0003c0036t0004 a0004c0008t0019 a0012c0027t0043	a0001c0004t0002g0076 a0001c0004t0002g0135 a0001c0005t0001g0280 others(12): Show a0001c0004t0002g0076 a0001c0004t0002g0135 a0001c0005t0001g0280 a0001c0005t0009g0240 a0001c0005t0020g0316 a0001c0007t0004g0238 a0001c0007t0004g0239 a0001c0009t0001g0214 a0002c0001t0001g0270 a0002c0001t0001g0314 a0002c0001t0001g0328 a0002c0001t0014g0215 a0003c0036t0004g0073 a0004c0008t0019g0218 a0012c0027t0043g0231	15	340	0.0441	18	c.226 others(35): Show c.2260+988_2260+989insTATATATATATATATAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2748378	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG03453.hp1 others(1): Show HG01884.hp1 HG02717.hp2 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0009 a0001c0005t0026 a0001c0005t0007 a0001c0005t0009 a0001c0005t0026	a0001c0005t0007g0022 a0001c0005t0007g0024 a0001c0005t0009g0244 others(1): Show a0001c0005t0007g0022 a0001c0005t0007g0024 a0001c0005t0009g0244 a0001c0005t0026g0030	4	340	0.0118	18	c.392 others(35): Show c.3927+736_3927+737insGTGTGTGTGTGTATGTGT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	30/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2765996	G G	GTTTTCTT others(11): Show GTTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02165.hp2 HG03831.hp2 HG00733.hp2 HG02165.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0163 a0001c0002t0003g0175 a0001c0002t0003g0183 a0001c0002t0003g0163 a0001c0002t0003g0175 a0001c0002t0003g0183	3	340	0.0088	18	c.471 others(37): Show c.4719+2221_4719+2222insTTTTTTTTCTTTTTTTTT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	37/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2793656	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp1 HG01981.hp1 others(4): Show HG00423.hp1 HG00733.hp1 HG01981.hp1 NA18957.hp2 NA18994.hp2 NA19007.hp1 NA19088.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0007c0033 a0001c0004 a0007c0033	a0001c0004t0002 a0001c0004t0005 a0001c0004t0012 others(1): Show a0001c0004t0002 a0001c0004t0005 a0001c0004t0012 a0007c0033t0002	a0001c0004t0002g0049 a0001c0004t0002g0098 a0001c0004t0005g0078 others(4): Show a0001c0004t0002g0049 a0001c0004t0002g0098 a0001c0004t0005g0078 a0001c0004t0005g0122 a0001c0004t0012g0056 a0001c0004t0012g0105 a0007c0033t0002g0046	7	340	0.0206	18	c.572 others(37): Show c.5720-2278_5720-2277insAAAAAAAAAAAAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO2_chr12_27441736_27507185	27443421	G G	GAAAAATG others(11): Show GAAAAATGGAAGGCCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	360	0.0028	18	c.-34 others(29): Show c.-3415_-3414insAAAAATGGAAGGCCTTTC	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding		3314		chr12	TogoVar
SMCO4_chr11_93473472_93548391	93484836	A A	AGACAAGG others(11): Show AGACAAGGAAGATCACTTT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	412	0.0024	18	c.-80 others(35): Show c.-80-5585_-80-5568dupAAAGTGATCTTCCTTGTC	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	2/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93514413	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19090.hp2 HG04115.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0322 a0001c0001t0003g0142 a0001c0001t0002g0322 a0001c0001t0003g0142	2	412	0.0049	18	c.-15 others(39): Show c.-153-15066_-153-15065insGTGTATATATATATATAT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93535787	A A	AAGCAGCA others(11): Show AAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp1 HG03471.hp1 HG02886.hp1 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0012g0370 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0012g0370	3	412	0.0073	18	c.-15 others(37): Show c.-154+7471_-154+7488dupGCTGCTGCTGCTGCTGCT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG1_chr16_18799860_18931408	18844570	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02572.hp1 others(14): Show HG02145.hp1 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0006 a0009 others(1): Show a0001 a0006 a0009 a0017	a0001c0003 a0001c0027 a0006c0013 others(2): Show a0001c0003 a0001c0027 a0006c0013 a0009c0035 a0017c0024	a0001c0003t0001 a0001c0003t0013 a0001c0027t0001 others(3): Show a0001c0003t0001 a0001c0003t0013 a0001c0027t0001 a0006c0013t0001 a0009c0035t0001 a0017c0024t0001	a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 others(14): Show a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0134 a0001c0003t0001g0136 a0001c0003t0001g0146 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0013g0216 a0001c0003t0013g0217 a0001c0027t0001g0165 a0006c0013t0001g0111 a0006c0013t0001g0145 a0009c0035t0001g0166 a0017c0024t0001g0135	17	300	0.0567	18	c.621 others(35): Show c.6219+858_6219+859insTGTGTGTGTGTGTGTGTG	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18844570	T T	TCTCTCAC others(11): Show TCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02647.hp1 others(3): Show HG02280.hp1 HG02622.hp1 HG02647.hp1 HG02886.hp1 HG03195.hp1 HG03540.hp1	a0001 a0012 a0001 a0012	a0001c0004 a0012c0021 a0001c0004 a0012c0021	a0001c0004t0007 a0001c0004t0016 a0012c0021t0007 a0001c0004t0007 a0001c0004t0016 a0012c0021t0007	a0001c0004t0007g0006 a0001c0004t0007g0007 a0001c0004t0007g0009 others(3): Show a0001c0004t0007g0006 a0001c0004t0007g0007 a0001c0004t0007g0009 a0001c0004t0007g0010 a0001c0004t0016g0005 a0012c0021t0007g0008	6	300	0.0200	18	c.621 others(35): Show c.6219+858_6219+859insTGTGTGTGTGTGTGAGAG	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18887516	C C	CTTTGTTT others(11): Show CTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02630.hp2 HG01515.hp1 HG02630.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0028 a0001c0007t0003 a0001c0007t0028	a0001c0007t0003g0176 a0001c0007t0028g0219 a0001c0007t0003g0176 a0001c0007t0028g0219	2	300	0.0067	18	c.823 others(35): Show c.823-1851_823-1850insAAAAAAAAAAAAAACAAA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62			chr16	TogoVar
SMG5_chr1_156244224_156287825	156245511	C C	CACTGGAG others(11): Show CACTGGAGGGGCCTGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	368	0.0027	18	c.50 others(29): Show c.5058_*5075dupTTCCCAGGCCCCTCCAGT	SMG5	ENSG00000198952.8	transcript	ENST00000361813.5	protein_coding		3712		chr1	TogoVar
SMG6_chr17_2054843_2308785	2066652	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18948.hp1 NA19079.hp2 others(1): Show HG03491.hp2 NA18948.hp1 NA19079.hp2 NA19081.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0036 a0003c0003t0001g0140 a0003c0003t0001g0146 others(1): Show a0002c0002t0001g0036 a0003c0003t0001g0140 a0003c0003t0001g0146 a0003c0003t0001g0226	4	278	0.0144	18	c.383 others(35): Show c.3836-991_3836-974dupGTGTGTGTGTGTGTGTGT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	16/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG03209.hp2 others(9): Show HG01109.hp2 HG01243.hp1 HG03209.hp2 HG03688.hp2 HG03834.hp2 NA18951.hp1 NA18957.hp1 NA18965.hp2 NA18982.hp1 NA18983.hp1 NA19091.hp1 NA20905.hp2	a0002 a0009 a0021 others(1): Show a0002 a0009 a0021 a0022	a0002c0002 a0009c0008 a0021c0027 others(1): Show a0002c0002 a0009c0008 a0021c0027 a0022c0019	a0002c0002t0001 a0002c0002t0002 a0009c0008t0003 others(3): Show a0002c0002t0001 a0002c0002t0002 a0009c0008t0003 a0009c0008t0009 a0021c0027t0016 a0022c0019t0001	a0002c0002t0001g0046 a0002c0002t0001g0069 a0002c0002t0001g0070 others(9): Show a0002c0002t0001g0046 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0002g0047 a0002c0002t0002g0071 a0002c0002t0002g0084 a0009c0008t0003g0222 a0009c0008t0009g0224 a0021c0027t0016g0110 a0022c0019t0001g0137	12	278	0.0432	18	c.335 others(39): Show c.3357+42374_3357+42391dupTTTTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG7_chr1_183467499_183559191	183472362	T T	TTCCCCCG others(11): Show TTCCCCCGCCCCTCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0234 a0003c0003t0004g0234	1	360	0.0028	18	c.-25 others(27): Show c.-259_-258insTCCCCCGCCCCTCCTCCC	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding		136		chr1	TogoVar
SMG9_chr19_43722983_43759962	43724806	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA20129.hp1 NA20300.hp1 HG02615.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0056 a0001c0001t0015 a0001c0001t0056	a0001c0001t0015g0033 a0001c0001t0015g0198 a0001c0001t0056g0109 a0001c0001t0015g0033 a0001c0001t0015g0198 a0001c0001t0056g0109	3	320	0.0094	18	c.67 others(29): Show c.6789_*6790insATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3176		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(11): Show TATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0010 a0001c0001t0010g0010	1	320	0.0031	18	c.67 others(29): Show c.6765_*6766insGTGTATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(11): Show TATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	320	0.0031	18	c.67 others(29): Show c.6765_*6766insGTATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43725450	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	320	0.0031	18	c.61 others(29): Show c.6145_*6146insAAAAAAAAAAAAAAAAAA	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		2532		chr19	TogoVar
SMG9_chr19_43722983_43759962	43757302	A A	AGGGCCTG others(11): Show AGGGCCTGGATTCAAACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0189 a0001c0001t0055g0189	1	320	0.0031	18	c.-26 others(29): Show c.-2656_-2655insGGGTTTGAATCCAGGCCC	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		2341		chr19	TogoVar
SMIM13_chr6_11088834_11143733	11090459	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02886.hp1 HG03471.hp1 others(1): Show HG02723.hp2 HG02886.hp1 HG03471.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0030 a0001c0001t0005 a0001c0001t0007 a0001c0001t0030	a0001c0001t0005g0008 a0001c0001t0005g0028 a0001c0001t0007g0033 others(1): Show a0001c0001t0005g0008 a0001c0001t0005g0028 a0001c0001t0007g0033 a0001c0001t0030g0304	4	400	0.0100	18	c.-38 others(29): Show c.-3855_-3854insATATATATATATATATAT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding		3374		chr6	TogoVar
SMIM13_chr6_11088834_11143733	11123281	C C	CAGTTCAC others(11): Show CAGTTCACGAGAACCTTCT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	400	0.0025	18	c.77- others(35): Show c.77-11121_77-11104dupAGTTCACGAGAACCTTCT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM14_chr4_39541336_39643865	39576658	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0306 a0001c0001t0004g0306	1	344	0.0029	18	c.76- others(33): Show c.76-4196_76-4195insTATATATATATATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39576660	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp1 HG02074.hp2 others(2): Show HG00323.hp2 HG01255.hp1 HG02074.hp2 HG02698.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0051 others(2): Show a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0051 a0001c0001t0002g0152 a0001c0001t0036g0072	5	344	0.0145	18	c.76- others(33): Show c.76-4198_76-4197insTATATATATATATATACA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39576660	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18747.hp1 NA19058.hp1 others(1): Show HG03490.hp2 NA18747.hp1 NA19058.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0148 a0001c0001t0002g0245 others(1): Show a0001c0001t0002g0066 a0001c0001t0002g0148 a0001c0001t0002g0245 a0001c0001t0002g0248	4	344	0.0116	18	c.76- others(33): Show c.76-4198_76-4197insTATATATATATATACACA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00741.hp1 others(26): Show HG00423.hp1 HG00438.hp2 HG00741.hp1 HG01175.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01993.hp1 HG02056.hp2 HG02074.hp1 HG02155.hp2 HG02293.hp2 HG02735.hp1 HG02738.hp1 HG03927.hp1 HG04184.hp2 NA18946.hp1 NA18970.hp2 NA18978.hp1 NA18980.hp2 NA18983.hp1 NA18990.hp1 NA18993.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0001t0032 a0001c0001t0033	a0001c0001t0001g0113 a0001c0001t0001g0130 a0001c0001t0001g0203 others(26): Show a0001c0001t0001g0113 a0001c0001t0001g0130 a0001c0001t0001g0203 a0001c0001t0001g0255 a0001c0001t0005g0139 a0001c0001t0005g0175 a0001c0001t0005g0180 a0001c0001t0005g0185 a0001c0001t0005g0188 a0001c0001t0005g0193 a0001c0001t0005g0200 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0226 a0001c0001t0005g0313 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0322 a0001c0001t0005g0323 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0328 a0001c0001t0011g0210 a0001c0001t0011g0212 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0017g0101 a0001c0001t0032g0231 a0001c0001t0033g0344	29	344	0.0843	18	c.76- others(35): Show c.76-12036_76-12019dupTTTTTTTTTTTTTTTTTT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar

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