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
SMARCB1_chr22_23781966_23843009	23830649	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18969.hp2 NA19062.hp1 NA18747.hp2 NA18969.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0051 a0001c0001t0006 a0001c0001t0051	a0001c0001t0006g0008 a0001c0001t0051g0019 a0001c0001t0006g0008 a0001c0001t0051g0019	3	28	0.1071	15	c.987 others(32): Show c.987-2904_987-2890dupTTTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47671173	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01255.hp2 others(7): Show HG00280.hp1 HG00733.hp1 HG01255.hp2 HG02145.hp2 HG04228.hp1 NA18946.hp1 NA18967.hp2 NA18969.hp1 NA19079.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 others(7): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0198 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0007g0210 a0001c0001t0008g0205	10	120	0.0833	15	c.184 others(32): Show c.1840-471_1840-457dupTTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47671197	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	211	0.0047	15	c.184 others(32): Show c.1840-481_1840-480insGTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47726061	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01109.hp2 others(7): Show HG00738.hp1 HG00741.hp1 HG01109.hp2 HG01981.hp2 HG02922.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp1 NA18941.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0002t0010	a0001c0001t0001g0180 a0001c0001t0002g0139 a0001c0001t0006g0107 others(7): Show a0001c0001t0001g0180 a0001c0001t0002g0139 a0001c0001t0006g0107 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0117 a0001c0002t0002g0150 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0010g0104	10	118	0.0847	15	c.646 others(32): Show c.646+2949_646+2963dupTTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	6/27			chr3	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp2 HG02809.hp1 others(1): Show HG01167.hp1 HG01891.hp2 HG02809.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0113 a0001c0001t0001g0134 a0001c0001t0003g0100 others(1): Show a0001c0001t0001g0113 a0001c0001t0001g0134 a0001c0001t0003g0100 a0001c0001t0005g0009	4	75	0.0533	15	c.125 others(32): Show c.1254+820_1254+834dupTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMC1B_chr22_45339063_45418599	45353893	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00642.hp2 others(14): Show HG00280.hp2 HG00438.hp1 HG00642.hp2 HG00733.hp2 HG01192.hp1 HG02015.hp1 HG02145.hp1 NA18941.hp2 NA18947.hp1 NA18957.hp2 NA18983.hp2 NA18990.hp2 NA19001.hp2 NA19012.hp2 NA19054.hp1 NA19080.hp2 NA19082.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0009 a0002c0001t0002g0075 others(12): Show a0002c0001t0002g0006 a0002c0001t0002g0009 a0002c0001t0002g0075 a0002c0001t0002g0082 a0002c0001t0002g0087 a0002c0001t0002g0104 a0002c0001t0002g0106 a0002c0001t0002g0108 a0002c0001t0002g0125 a0002c0001t0002g0127 a0002c0001t0002g0128 a0002c0001t0002g0136 a0002c0001t0002g0139 a0002c0001t0002g0146 a0002c0001t0002g0294	17	85	0.2000	15	c.327 others(30): Show c.3273+70_3273+84dupTTTTTTTTTTTTTTT	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	21/24			chr22	TogoVar
SMC3_chr10_110562695_110611048	110607292	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA20129.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0182 a0001c0001t0009g0215 a0001c0001t0002g0182 a0001c0001t0009g0215	2	21	0.0952	15	c.29 others(26): Show c.2990_*2991insAAAAAAAAAAAAAAA	SMC3	ENSG00000108055.11	transcript	ENST00000361804.5	protein_coding		1245		chr10	TogoVar
SMC5_chr9_70253978_70359873	70359065	A A	AATTATTA others(8): Show AATTATTATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02083.hp1 HG02155.hp1 others(3): Show HG01255.hp1 HG02083.hp1 HG02155.hp1 HG02723.hp1 NA18961.hp2 NA18989.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0166 a0003c0003t0001g0168 a0003c0003t0001g0174 others(3): Show a0003c0003t0001g0166 a0003c0003t0001g0168 a0003c0003t0001g0174 a0003c0003t0001g0177 a0003c0003t0001g0187 a0003c0003t0001g0188	6	16	0.3750	15	c.67 others(26): Show c.6734_*6735insATTATTATTATTATT	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding		4193		chr9	TogoVar
SMC6_chr2_17658812_17758810	17726087	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03710.hp1 HG02055.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0002 a0001c0001t0002 a0002c0004t0002	a0001c0001t0002g0225 a0002c0004t0002g0183 a0001c0001t0002g0225 a0002c0004t0002g0183	2	72	0.0278	15	c.624 others(30): Show c.624+287_624+301dupTTTTTTTTTTTTTTT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	8/27			chr2	TogoVar
SMCHD1_chr18_2650726_2810017	2679480	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01943.hp1 HG02129.hp2 others(8): Show HG00609.hp1 HG01943.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG03471.hp2 NA18941.hp2 NA18949.hp1 NA19003.hp2 NA19010.hp2 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0001 a0001c0004t0022 a0002c0006t0001 a0001c0004t0001 a0001c0004t0022 a0002c0006t0001	a0001c0004t0001g0038 a0001c0004t0001g0064 a0001c0004t0001g0065 others(8): Show a0001c0004t0001g0038 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0073 a0001c0004t0001g0112 a0001c0004t0001g0114 a0001c0004t0001g0153 a0001c0004t0001g0210 a0001c0004t0022g0060 a0002c0006t0001g0123 a0002c0006t0001g0125	11	28	0.3929	15	c.638 others(32): Show c.638+5340_638+5354dupAAAAAAAAAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(8): Show TATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20300.hp2 NA21309.hp1 HG03195.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0023 a0001c0005t0004g0024 a0001c0005t0004g0030 a0001c0005t0004g0023 a0001c0005t0004g0024 a0001c0005t0004g0030	3	68	0.0441	15	c.226 others(32): Show c.2260+988_2260+989insTATATATATATAAAA	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(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG02145.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0004 a0001c0004t0001 a0001c0005t0004	a0001c0004t0001g0119 a0001c0005t0004g0247 a0001c0004t0001g0119 a0001c0005t0004g0247	2	67	0.0299	15	c.226 others(32): Show c.2260+988_2260+989insTATATATATATATAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2793656	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02155.hp1 HG02523.hp2 others(6): Show HG01975.hp2 HG02155.hp1 HG02523.hp2 HG03704.hp1 NA18941.hp2 NA18980.hp2 NA19011.hp2 NA19058.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0018 a0002c0006 a0001c0004 a0001c0018 a0002c0006	a0001c0004t0001 a0001c0004t0030 a0001c0018t0001 others(1): Show a0001c0004t0001 a0001c0004t0030 a0001c0018t0001 a0002c0006t0001	a0001c0004t0001g0064 a0001c0004t0001g0077 a0001c0004t0001g0153 others(6): Show a0001c0004t0001g0064 a0001c0004t0001g0077 a0001c0004t0001g0153 a0001c0004t0001g0156 a0001c0004t0030g0049 a0001c0018t0001g0081 a0001c0018t0001g0148 a0002c0006t0001g0055 a0002c0006t0001g0126	9	221	0.0407	15	c.572 others(34): Show c.5720-2292_5720-2278dupAAAAAAAAAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO4_chr11_93473472_93548391	93505856	A A	AATGATGA others(8): Show AATGATGATGATAATG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	122	0.0082	15	c.-15 others(34): Show c.-153-6509_-153-6508insCATTATCATCATCAT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93535787	A A	AAGCAGCA others(8): Show AAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp2 NA20300.hp1 HG02717.hp2 HG03130.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0344 a0001c0002t0004g0345 a0001c0002t0004g0346 a0001c0002t0004g0344 a0001c0002t0004g0345 a0001c0002t0004g0346	3	370	0.0081	15	c.-15 others(34): Show c.-154+7474_-154+7488dupGCTGCTGCTGCTGCT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG1_chr16_18799860_18931408	18887516	C C	CTTTGTTT others(8): Show CTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02056.hp2 HG02083.hp1 others(12): Show HG00558.hp2 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02922.hp1 NA18612.hp1 NA18747.hp2 NA18945.hp1 NA18955.hp1 NA18962.hp2 NA18969.hp2 NA18973.hp1 NA18990.hp1 NA18993.hp1 NA19077.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0010 a0002c0005 a0003c0006 others(1): Show a0001c0010 a0002c0005 a0003c0006 a0003c0017	a0001c0010t0026 a0002c0005t0003 a0003c0006t0003 others(1): Show a0001c0010t0026 a0002c0005t0003 a0003c0006t0003 a0003c0017t0003	a0001c0010t0026g0188 a0002c0005t0003g0177 a0002c0005t0003g0179 others(12): Show a0001c0010t0026g0188 a0002c0005t0003g0177 a0002c0005t0003g0179 a0002c0005t0003g0193 a0003c0006t0003g0181 a0003c0006t0003g0183 a0003c0006t0003g0192 a0003c0006t0003g0199 a0003c0006t0003g0200 a0003c0006t0003g0201 a0003c0006t0003g0202 a0003c0006t0003g0203 a0003c0006t0003g0207 a0003c0006t0003g0212 a0003c0017t0003g0204	15	162	0.0926	15	c.823 others(32): Show c.823-1851_823-1850insAAAAAAAAAAACAAA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18927415	G G	GAAGGAAA others(8): Show GAAGGAAAGGAAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02615.hp1 HG02723.hp2 others(1): Show HG02055.hp1 HG02615.hp1 HG02723.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0032 a0001c0002t0005 a0001c0002t0032	a0001c0002t0005g0243 a0001c0002t0005g0270 a0001c0002t0005g0271 others(1): Show a0001c0002t0005g0243 a0001c0002t0005g0270 a0001c0002t0005g0271 a0001c0002t0032g0239	4	175	0.0229	15	c.-13 others(26): Show c.-1375_-1374insTCCTTTCCTTTCCTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding		1008		chr16	TogoVar
SMG5_chr1_156244224_156287825	156264267	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG06807.hp1 HG03041.hp1 HG06807.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0005c0015 a0001c0005 a0005c0015	a0001c0005t0001 a0005c0015t0007 a0001c0005t0001 a0005c0015t0007	a0001c0005t0001g0264 a0005c0015t0007g0037 a0001c0005t0001g0264 a0005c0015t0007g0037	2	68	0.0294	15	c.185 others(32): Show c.1856-712_1856-698dupTTTTTTTTTTTTTTT	SMG5	ENSG00000198952.8	transcript	ENST00000361813.5	protein_coding	12/21			chr1	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02698.hp2 HG03239.hp2 others(1): Show HG02109.hp1 HG02698.hp2 HG03239.hp2 HG03654.hp2	a0006 a0016 a0006 a0016	a0006c0005 a0006c0025 a0006c0032 others(1): Show a0006c0005 a0006c0025 a0006c0032 a0016c0014	a0006c0005t0007 a0006c0025t0011 a0006c0032t0007 others(1): Show a0006c0005t0007 a0006c0025t0011 a0006c0032t0007 a0016c0014t0012	a0006c0005t0007g0113 a0006c0025t0011g0112 a0006c0032t0007g0123 others(1): Show a0006c0005t0007g0113 a0006c0025t0011g0112 a0006c0032t0007g0123 a0016c0014t0012g0135	4	90	0.0444	15	c.335 others(36): Show c.3357+42377_3357+42391dupTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2230186	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0021 a0004c0004t0021	a0004c0004t0021g0219 a0004c0004t0021g0219	1	226	0.0044	15	c.286 others(34): Show c.2869+6291_2869+6305dupTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18			chr17	TogoVar
SMG9_chr19_43722983_43759962	43725450	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02970.hp2 others(4): Show HG01243.hp1 HG02486.hp1 HG02970.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0023 a0001c0001t0053	a0001c0001t0003g0023 a0001c0001t0003g0046 a0001c0001t0003g0079 others(4): Show a0001c0001t0003g0023 a0001c0001t0003g0046 a0001c0001t0003g0079 a0001c0001t0003g0083 a0001c0001t0018g0086 a0001c0001t0023g0025 a0001c0001t0053g0115	7	198	0.0354	15	c.61 others(26): Show c.6145_*6146insAAAAAAAAAAAAAAA	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		2532		chr19	TogoVar
SMIM10L1_chr12_11166194_11181016	11168299	A A	AGAAGAAG others(8): Show AGAAGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	323	0.0031	15	c.-30 others(26): Show c.-3058_-3057insGAAGAAGGAAGGAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2894		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11177472	T T	TGGCGGGG others(8): Show TGGCGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0000 a0001c0002t0005g0000	1	248	0.0040	15	c.59 others(26): Show c.5909_*5910insGGCGGGGGGGGGGGG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		1457		chr12	TogoVar
SMIM14_chr4_39541336_39643865	39576685	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	274	0.0036	15	c.76- others(30): Show c.76-4223_76-4222insTATATATATATATAT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG03041.hp2 others(2): Show HG02280.hp2 HG02809.hp1 HG03041.hp2 NA18906.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0043 a0001c0001t0003g0015 a0001c0001t0003g0018 others(2): Show a0001c0001t0001g0043 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0056 a0001c0001t0013g0269	5	40	0.1250	15	c.76- others(32): Show c.76-12033_76-12019dupTTTTTTTTTTTTTTT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56658693	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00558.hp1 others(69): Show HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01358.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02698.hp1 HG03195.hp1 HG03453.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp2 HG03927.hp2 NA18612.hp1 NA18942.hp1 NA18944.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18989.hp1 NA18990.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19011.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19075.hp2 NA19081.hp2 NA19088.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0008g0001 a0001c0001t0008g0032 a0001c0001t0008g0048 a0001c0001t0008g0053 a0001c0001t0008g0121 a0001c0001t0008g0149 a0001c0001t0017g0001 a0001c0001t0017g0140 a0001c0001t0018g0006 a0001c0001t0019g0067 a0001c0001t0026g0127	72	344	0.2093	15	c.34 others(26): Show c.3480_*3481insAAAAAAAAAAAGAAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		1447		chr19	TogoVar
SMIM1_chr1_3767749_3780956	3772552	C C	CCCCCCTC others(8): Show CCCCCCTCTCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	416	0.0024	15	c.-43 others(24): Show c.-431_-430insCCCCCTCTCGCCCCG	SMIM1	ENSG00000235169.11	transcript	ENST00000642557.4	protein_coding		196		chr1	TogoVar
SMIM22_chr16_4790369_4801491	4796028	A A	AGGAAGGT others(8): Show AGGAAGGTGAGCCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19030.hp1 HG02257.hp1 NA19030.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0002 a0003c0004t0003g0002	2	400	0.0050	15	c.219 others(24): Show c.219_225+8dupCTGGAAGGTGAGCCC	SMIM22	ENSG00000267795.6	transcript	ENST00000586005.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
SMIM24_chr19_3468986_3485525	3475432	A A	AGGTGGGT others(8): Show AGGTGGGTGGATAGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02300.hp2 HG01255.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0045 a0001c0001t0004g0044 a0001c0001t0001g0045 a0001c0001t0004g0044	2	419	0.0048	15	c.240 others(30): Show c.240-451_240-437dupCACTATCCACCCACC	SMIM24	ENSG00000095932.7	transcript	ENST00000215531.6	protein_coding	3/3			chr19	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(8): Show CCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02257.hp1 HG02257.hp2 others(2): Show HG01175.hp1 HG02257.hp1 HG02257.hp2 HG02922.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0040 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0109	5	6	0.8333	15	c.17 others(26): Show c.1785_*1786insCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMIM2_chr13_44138150_44166257	44163606	T T	TAGATAGA others(8): Show TAGATAGATAGATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	348	0.0029	15	c.-25 others(26): Show c.-2539_-2538insTCTATCTATCTATCT	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		2350		chr13	TogoVar
SMIM31_chr4_164749131_164808795	164755534	A A	AGGAGGGG others(8): Show AGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA20300.hp2 HG01496.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0025 a0001c0001t0011 a0001c0001t0025	a0001c0001t0011g0208 a0001c0001t0025g0237 a0001c0001t0011g0208 a0001c0001t0025g0237	2	331	0.0060	15	c.-26 others(32): Show c.-26+1127_-26+1128insGGGAGGGGAGGGGAG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164755539	A A	AGGAAGGG others(8): Show AGGAAGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG04199.hp1 HG02895.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0028 a0001c0002t0016 a0001c0001t0028 a0001c0002t0016	a0001c0001t0028g0158 a0001c0002t0016g0203 a0001c0001t0028g0158 a0001c0002t0016g0203	2	17	0.1176	15	c.-26 others(32): Show c.-26+1131_-26+1132insAGGGAGGGGAGGGGA	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164755539	A A	AGGAGGGG others(8): Show AGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(57): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp2 HG02273.hp1 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03209.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp1 HG04115.hp2 NA18747.hp1 NA18952.hp2 NA18955.hp2 NA18984.hp2 NA19007.hp2 NA19009.hp2 NA19030.hp2 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0002c0003t0007	a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0287 others(57): Show a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0291 a0001c0001t0002g0294 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0334 a0001c0001t0002g0338 a0001c0001t0002g0341 a0001c0001t0002g0347 a0001c0001t0002g0359 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0289 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0300 a0001c0001t0003g0311 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0004g0205 a0001c0001t0004g0285 a0001c0001t0004g0292 a0001c0001t0004g0299 a0001c0001t0004g0301 a0001c0001t0004g0336 a0001c0001t0004g0340 a0001c0001t0004g0342 a0001c0001t0004g0348 a0001c0001t0004g0358 a0001c0001t0004g0360 a0001c0001t0005g0105 a0001c0001t0005g0107 a0001c0001t0005g0306 a0001c0001t0005g0345 a0001c0001t0005g0346 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0010g0313 a0002c0003t0007g0277	60	75	0.8000	15	c.-26 others(32): Show c.-26+1160_-26+1174dupGAGGGGAGGGGAGGG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164758801	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	10	0.1000	15	c.-26 others(32): Show c.-26+4416_-26+4430dupTTTTTTTTTTTTTTT	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164788478	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02165.hp2 HG02738.hp2 others(4): Show HG02071.hp2 HG02165.hp2 HG02738.hp2 HG03579.hp1 HG04115.hp1 NA18971.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0033	a0001c0001t0001g0069 a0001c0001t0001g0247 a0001c0001t0001g0268 others(4): Show a0001c0001t0001g0069 a0001c0001t0001g0247 a0001c0001t0001g0268 a0001c0001t0001g0355 a0001c0001t0006g0172 a0001c0001t0007g0207 a0001c0001t0033g0139	7	124	0.0565	15	c.113 others(34): Show c.113-12599_113-12585dupTTTTTTTTTTTTTTT	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM35_chr11_117998634_118091963	118021046	G G	GGTTTTTT others(8): Show GGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0347 a0002c0002t0005g0347	1	344	0.0029	15	c.8-5 others(28): Show c.8-5238_8-5237insAAAAAAAAAAAAAAC	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118021051	T T	TTTTTTTT others(8): Show TTTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0387 a0002c0002t0005g0387	1	400	0.0025	15	c.8-5 others(28): Show c.8-5243_8-5242insCAAACAAAAAAAAAA	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118048946	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00738.hp2 others(20): Show HG00140.hp1 HG00609.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01192.hp2 HG01257.hp2 HG01496.hp2 HG01516.hp2 HG02155.hp1 HG02165.hp1 HG02735.hp1 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03710.hp1 HG04204.hp1 NA18942.hp1 NA19058.hp2 NA19070.hp1 NA19081.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0002c0002t0002 a0002c0002t0007 a0003c0003t0013	a0001c0001t0001g0151 a0001c0001t0001g0180 a0001c0001t0001g0182 others(19): Show a0001c0001t0001g0151 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0224 a0001c0001t0001g0291 a0001c0001t0003g0194 a0001c0001t0004g0199 a0001c0001t0006g0183 a0001c0001t0008g0382 a0001c0001t0010g0366 a0001c0001t0014g0401 a0001c0001t0016g0300 a0002c0002t0002g0001 a0002c0002t0002g0185 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0007g0090 a0003c0003t0013g0298	23	185	0.1243	15	c.8-3 others(30): Show c.8-33152_8-33138dupTTTTTTTTTTTTTTT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55500819	A A	ATAAAATA others(8): Show ATAAAATATAATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02559.hp2 others(1): Show HG02055.hp2 HG02109.hp2 HG02559.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 others(1): Show a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0010g0151	4	338	0.0118	15	c.17 others(36): Show c.174+10059_*174+10060insATATATTATATTTTA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55500829	A A	ATATGTAA others(8): Show ATATGTAATATATTAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	327	0.0031	15	c.17 others(36): Show c.174+10049_*174+10050insATAATATATTACATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501411	T T	TAATTATA others(8): Show TAATTATATAAATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0232 a0001c0001t0011g0232	1	184	0.0054	15	c.17 others(34): Show c.174+9467_*174+9468insTATATTTATATAATT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM3_chr5_150773757_150801734	150797319	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	399	0.0025	15	c.16 others(26): Show c.1696_*1697insATATATATATATATA	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		586		chr5	TogoVar
SMIM41_chr12_52074704_52113255	52089597	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03540.hp1 HG02615.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0262 a0001c0001t0001g0263	2	40	0.0500	15	c.19 others(34): Show c.195+5654_*195+5668dupCAAAACAAAACAAAA	SMIM41	ENSG00000284791.2	transcript	ENST00000546390.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMIM46_chr19_14107324_14117476	14109965	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	172	0.0058	15	c.23 others(26): Show c.2358_*2359insATATATATATATATA	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2358		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50783919	T T	TATAGTGC others(8): Show TATAGTGCAACTATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	15	c.18 others(26): Show c.1878_*1892dupTCATAGTTGCACTAT	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1808		chr19	TogoVar
SMIM8_chr6_87317588_87347329	87338955	T T	TCCCAGTA others(8): Show TCCCAGTACTTTGGGA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	418	0.0024	15	c.136 others(32): Show c.136-1160_136-1146dupCCCAGTACTTTGGGA	SMIM8	ENSG00000111850.11	transcript	ENST00000392863.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMKR1_chr7_129497531_129517918	129498482	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp2 others(119): Show HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp2 HG01109.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02293.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp2 HG02738.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19087.hp1 NA19089.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0002g0115	122	328	0.3720	15	c.-43 others(26): Show c.-4343_-4342insAAAAGAAAAGAAAAG	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4048		chr7	TogoVar
SMKR1_chr7_129497531_129517918	129499488	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	35	0.0286	15	c.-33 others(26): Show c.-3337_-3336insTTTTTTTTTTTTTTT	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		3042		chr7	TogoVar
SMOC1_chr14_69874416_70037366	69965377	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02280.hp1 HG02451.hp1 others(1): Show HG01069.hp2 HG02280.hp1 HG02451.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0206 a0001c0001t0001g0217 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0218	4	236	0.0169	15	c.379 others(34): Show c.379-10323_379-10309dupTAATAATAATAATAA	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar

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