Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMARCA4_chr19_10956030_11067273	11061202	AAAATATA others(13): Show AAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	195	0.0051	-20	c.491 others(37): Show c.4912-580_4912-561delAATATATATATATATATATA	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCAD1_chr4_94202865_94296292	94272163	AAGGACAG others(13): Show AAGGACAGTCATATTGGGTTC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0166 a0002c0005t0003g0166	1	320	0.0031	-20	c.157 others(39): Show c.1572+1349_1572+1368delACAGTCATATTGGGTTCAGG	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCB1_chr22_23781966_23843009	23822979	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	362	0.0028	-20	c.796 others(37): Show c.796-2245_796-2226delTTTTTTTTTTTTTTTTTTTG	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	6/8			chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47636786	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA20300.hp2 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0175 a0001c0001t0002g0142 a0001c0001t0002g0175	2	126	0.0159	-20	c.237 others(37): Show c.2377-670_2377-651delCACACACACACACACACATA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	22/27			chr3	TogoVar
SMC5_chr9_70253978_70359873	70309330	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0009 a0006c0011t0009	a0006c0011t0009g0303 a0006c0011t0009g0304 a0006c0011t0009g0303 a0006c0011t0009g0304	2	364	0.0055	-20	c.157 others(39): Show c.1578+3971_1578+3990delTTTTTTTTTTTTTTTTTTTG	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	11/24			chr9	TogoVar
SMC5_chr9_70253978_70359873	70322641	GCCTGGCC others(13): Show GCCTGGCCAACATGATGAAAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG03486.hp1 others(1): Show HG00738.hp1 HG01070.hp1 HG03486.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0285 a0001c0001t0007g0283 a0001c0001t0007g0284 others(1): Show a0001c0001t0002g0285 a0001c0001t0007g0283 a0001c0001t0007g0284 a0001c0001t0007g0286	4	364	0.0110	-20	c.215 others(37): Show c.2151-837_2151-818delGCCAACATGATGAAACCCTG	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMCHD1_chr18_2650726_2810017	2662200	TAAAGAAA others(13): Show TAAAGAAAGAAAGAAAGAAAG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0329 a0002c0001t0002g0329	1	163	0.0061	-20	c.187 others(37): Show c.187-3949_187-3930delGAAAGAAAGAAAGAAAGAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2775068	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02647.hp1 HG02895.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0016 a0001c0012t0020 a0001c0012t0016 a0001c0012t0020	a0001c0012t0016g0021 a0001c0012t0020g0022 a0001c0012t0016g0021 a0001c0012t0020g0022	2	31	0.0645	-20	c.517 others(37): Show c.5176-654_5176-635delTTTTTTTTTTTTTTTTTTTT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	41/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO4_chr11_93473472_93548391	93514374	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00741.hp2 others(37): Show HG00099.hp1 HG00642.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01255.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG02109.hp2 HG02135.hp1 HG02602.hp2 HG02647.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0004 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0002t0013 a0001c0002t0026	a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0008g0325 others(35): Show a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0008g0325 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0059 a0001c0002t0004g0084 a0001c0002t0004g0098 a0001c0002t0004g0136 a0001c0002t0004g0138 a0001c0002t0004g0139 a0001c0002t0004g0142 a0001c0002t0004g0167 a0001c0002t0004g0168 a0001c0002t0004g0169 a0001c0002t0004g0178 a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0004g0184 a0001c0002t0004g0220 a0001c0002t0004g0270 a0001c0002t0004g0312 a0001c0002t0004g0313 a0001c0002t0004g0319 a0001c0002t0004g0331 a0001c0002t0004g0349 a0001c0002t0007g0203 a0001c0002t0009g0141 a0001c0002t0009g0143 a0001c0002t0009g0145 a0001c0002t0009g0179 a0001c0002t0009g0296 a0001c0002t0013g0204 a0001c0002t0013g0289 a0001c0002t0013g0309 a0001c0002t0026g0374	40	157	0.2548	-20	c.-15 others(41): Show c.-153-15046_-153-15027delTATATATATATATATATATA	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG1_chr16_18799860_18931408	18844474	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03471.hp1 HG03579.hp1 others(1): Show HG03225.hp2 HG03471.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0296 a0001c0003t0009g0297 a0001c0003t0009g0298 others(1): Show a0001c0003t0009g0296 a0001c0003t0009g0297 a0001c0003t0009g0298 a0001c0003t0009g0299	4	66	0.0606	-20	c.621 others(37): Show c.6219+935_6219+954delGTGTGTGTGTGTGTGTGTGT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18867526	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0296 a0001c0003t0009g0296	1	144	0.0069	-20	c.319 others(37): Show c.3195+644_3195+663delATTTATTTATTTATTTATTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	22/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2080073	TCAAAACA others(13): Show TCAAAACAAAACAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02809.hp2 others(4): Show HG01884.hp2 HG02055.hp1 HG02809.hp2 HG03130.hp1 HG03195.hp1 HG06807.hp1 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0008 a0004c0004t0021 a0004c0004t0002 a0004c0004t0008 a0004c0004t0021	a0004c0004t0002g0085 a0004c0004t0008g0015 a0004c0004t0008g0016 others(4): Show a0004c0004t0002g0085 a0004c0004t0008g0015 a0004c0004t0008g0016 a0004c0004t0008g0055 a0004c0004t0008g0056 a0004c0004t0008g0057 a0004c0004t0021g0219	7	91	0.0769	-20	c.368 others(39): Show c.3681+1717_3681+1736delTTTTGTTTTGTTTTGTTTTG	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	15/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2121583	CTGTCTGT others(13): Show CTGTCTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01109.hp2 HG01243.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0003 a0009c0008t0009 a0009c0008t0003 a0009c0008t0009	a0009c0008t0003g0222 a0009c0008t0009g0224 a0009c0008t0003g0222 a0009c0008t0009g0224	2	160	0.0125	-20	c.335 others(41): Show c.3358-35702_3358-35683delCACACACACACACACAGACA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2121587	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0012 a0012c0021t0012	a0012c0021t0012g0220 a0012c0021t0012g0220	1	13	0.0769	-20	c.335 others(41): Show c.3358-35706_3358-35687delCACACACACACACACACACA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2183745	GACACACA others(13): Show GACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03516.hp1 HG02615.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0132 a0001c0001t0006g0133	2	22	0.0909	-20	c.315 others(39): Show c.3155+2898_3155+2917delGTGTGTGTGTGTGTGTGTGT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	12/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2236701	TCACACAC others(13): Show TCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0156 a0003c0003t0001g0156	1	16	0.0625	-20	c.272 others(35): Show c.2724-84_2724-65delTGTGTGTGTGTGTGTGTGTG	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	9/18			chr17	TogoVar
SMG8_chr17_59205035_59220230	59219059	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG03579.hp1 others(1): Show HG02486.hp1 HG02630.hp1 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	4	54	0.0741	-20	c.40 others(31): Show c.4058_*4077delTTTTTTTTTTTTTTTTTTTT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		3830		chr17	TogoVar
SMG9_chr19_43722983_43759962	43724830	TACACACA others(13): Show TACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02622.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0028 a0001c0001t0012 a0001c0002t0028	a0001c0001t0012g0179 a0001c0002t0028g0101 a0001c0001t0012g0179 a0001c0002t0028g0101	2	74	0.0270	-20	c.67 others(31): Show c.6746_*6765delGTGTGTGTGTGTGTGTGTGT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMIM10L1_chr12_11166194_11181016	11168213	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 NA18906.hp1 HG02280.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0000 a0001c0002t0006g0000 a0001c0002t0002g0000 a0001c0002t0006g0000	2	277	0.0072	-20	c.-31 others(31): Show c.-3143_-3124delAAGAAAGAAAGAAAGAAAGA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2980		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168368	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(166): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 others(11): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0036 a0001c0002t0002 a0001c0002t0006 a0001c0002t0038 a0001c0002t0040 a0001c0002t0042	a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0014g0000 others(11): Show a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0014g0000 a0001c0001t0022g0000 a0001c0001t0023g0000 a0001c0001t0027g0000 a0001c0001t0028g0000 a0001c0001t0033g0000 a0001c0001t0036g0000 a0001c0002t0002g0000 a0001c0002t0006g0000 a0001c0002t0038g0000 a0001c0002t0040g0000 a0001c0002t0042g0000	169	308	0.5487	-20	c.-29 others(31): Show c.-2988_-2969delAAAGAAAGAAAGAAAGAAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2825		chr12	TogoVar
SMIM10_chrX_134985991_134997473	134986694	TCTTTCTT others(13): Show TCTTTCTTTCTTTTTTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG02280.hp2 others(2): Show HG01515.hp1 HG01517.hp1 HG02280.hp2 NA18522.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0003g0000 a0001c0001t0004g0000	5	312	0.0160	-20	c.-44 others(31): Show c.-4401_-4382delCTTTCTTTCTTTTTTCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4296		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986698	TCTTTCTT others(13): Show TCTTTCTTTTTTCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01346.hp2 HG01981.hp1 others(9): Show HG01243.hp1 HG01346.hp2 HG01981.hp1 HG02004.hp2 HG02148.hp2 HG02280.hp1 HG02723.hp1 HG03041.hp2 HG03516.hp1 HG03516.hp2 NA18949.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0006g0000	12	303	0.0396	-20	c.-43 others(31): Show c.-4397_-4378delCTTTCTTTTTTCTTCCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4292		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986702	TCTTTTTT others(13): Show TCTTTTTTCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG03098.hp1 HG01123.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0003g0000 a0001c0001t0004g0000	2	294	0.0068	-20	c.-43 others(31): Show c.-4393_-4374delCTTTTTTCTTCCTTCCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4288		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986709	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA19030.hp1 NA18991.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0000 a0001c0001t0010g0000 a0001c0001t0005g0000 a0001c0001t0010g0000	2	192	0.0104	-20	c.-43 others(31): Show c.-4386_-4367delCTTCCTTCCTTCCTTCCTTC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4281		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986757	CCTTCCTT others(13): Show CCTTCCTTCCTTTCTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	319	0.0031	-20	c.-43 others(31): Show c.-4338_-4319delCTTCCTTCCTTTCTTTCTTT	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4233		chrX	TogoVar
SMIM13_chr6_11088834_11143733	11089299	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00597.hp2 others(8): Show HG00140.hp2 HG00438.hp1 HG00597.hp2 HG01175.hp1 HG01433.hp1 HG02056.hp1 HG02451.hp1 HG02523.hp2 NA18955.hp2 NA19067.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0048 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0085 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0002g0005 a0001c0001t0006g0259 a0001c0001t0006g0270 a0001c0001t0007g0257	11	36	0.3056	-20	c.-50 others(31): Show c.-5014_-4995delTTTTTTTTTTTTTTTTTTTT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding		4534		chr6	TogoVar
SMIM14_chr4_39541336_39643865	39632775	TCACACAC others(13): Show TCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA21309.hp2 HG03831.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0081 a0001c0001t0029g0329 a0001c0001t0002g0081 a0001c0001t0029g0329	2	40	0.0500	-20	c.-36 others(37): Show c.-36+5944_-36+5963delTGTGTGTGTGTGTGTGTGTG	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56648131	TATCCATC others(13): Show TATCCATCCATCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0079 a0001c0001t0006g0079	1	72	0.0139	-20	c.246 others(35): Show c.246+528_246+547delCCATCCATCCATCCATCCAT	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM18_chr8_30633580_30651064	30640393	CAAATGGG others(13): Show CAAATGGGAGTAAACATATCA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	428	0.0023	-20	c.-11 others(39): Show c.-111+1777_-111+1796delATGGGAGTAAACATATCAAA	SMIM18	ENSG00000253457.4	transcript	ENST00000517349.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
SMIM20_chr4_25909220_25934812	25913533	CAGGGAGA others(13): Show CAGGGAGAGAGGATGGGATGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	436	0.0023	-20	c.-78 others(29): Show c.-780_-761delAGGGAGAGAGGATGGGATGG	SMIM20	ENSG00000250317.9	transcript	ENST00000506197.3	protein_coding		686		chr4	TogoVar
SMIM21_chr18_75404476_75432703	75426631	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG03579.hp2 HG01891.hp2 HG02922.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0028 a0001c0001t0007g0055 a0001c0001t0007g0028 a0001c0001t0007g0055	3	20	0.1500	-20	c.129 others(35): Show c.129+784_129+803delTTTTTTTTTTTTTTTTTTTT	SMIM21	ENSG00000206026.7	transcript	ENST00000579022.5	protein_coding	1/2			chr18	TogoVar
SMIM23_chr5_171780817_171796136	171787004	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02055.hp1 others(17): Show HG01109.hp1 HG01884.hp1 HG02055.hp1 HG02257.hp2 HG02572.hp2 HG02647.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03209.hp1 HG03654.hp2 HG03710.hp2 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA18953.hp2 NA18991.hp1 NA19004.hp2 NA19076.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0025 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0050	20	88	0.2273	-20	c.105 others(37): Show c.105+1041_105+1060delTTTTTTTTTTTTTTTTTTTT	SMIM23	ENSG00000185662.11	transcript	ENST00000523047.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMIM24_chr19_3468986_3485525	3475662	TGGTGGGT others(13): Show TGGTGGGTGAATTGATGGGTG	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03927.hp2 HG03654.hp1 HG03927.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0048 a0004c0004t0001g0060 a0004c0004t0001g0048 a0004c0004t0001g0060	2	420	0.0048	-20	c.240 others(35): Show c.240-686_240-667delCACCCATCAATTCACCCACC	SMIM24	ENSG00000095932.7	transcript	ENST00000215531.6	protein_coding	3/3			chr19	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(13): Show CCTCGGCTCGGCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02818.hp2 HG03486.hp1 others(5): Show HG00323.hp1 HG02818.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 NA18962.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0053 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0091	8	9	0.8889	-20	c.17 others(31): Show c.1766_*1785delCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMIM31_chr4_164749131_164808795	164758801	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG03453.hp2 HG02622.hp2 HG03098.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0265 a0001c0001t0019g0242 a0001c0001t0019g0266 a0001c0001t0002g0265 a0001c0001t0019g0242 a0001c0001t0019g0266	3	12	0.2500	-20	c.-26 others(37): Show c.-26+4411_-26+4430delTTTTTTTTTTTTTTTTTTTT	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM35_chr11_117998634_118091963	118048537	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(48): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG01070.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG03130.hp1 HG03490.hp2 HG03579.hp2 HG03831.hp1 HG03942.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18959.hp2 NA18960.hp2 NA18965.hp2 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19012.hp2 NA19060.hp1 NA19076.hp1 NA19091.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0031 a0001c0006t0027 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(48): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0059 a0001c0001t0001g0111 a0001c0001t0001g0133 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0310 a0001c0001t0003g0103 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0150 a0001c0001t0004g0029 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0123 a0001c0001t0004g0131 a0001c0001t0004g0143 a0001c0001t0004g0155 a0001c0001t0004g0301 a0001c0001t0004g0313 a0001c0001t0006g0020 a0001c0001t0008g0368 a0001c0001t0008g0394 a0001c0001t0009g0369 a0001c0001t0010g0355 a0001c0001t0012g0057 a0001c0001t0031g0005 a0001c0006t0027g0121 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0017 a0002c0002t0002g0023 a0002c0002t0002g0134 a0002c0002t0005g0318 a0002c0002t0005g0319 a0002c0002t0007g0014 a0002c0002t0007g0016 a0002c0002t0007g0314 a0002c0002t0007g0315 a0002c0002t0011g0399	51	97	0.5258	-20	c.8-3 others(35): Show c.8-32748_8-32729delCTTCCTTCCTTCCTTCCTTC	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118067860	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0162 a0002c0002t0002g0162	1	65	0.0154	-20	c.7+1 others(35): Show c.7+18871_7+18890delATATATATATATATATATAT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55484910	AGAAATAT others(13): Show AGAAATATTAGGACCAAATGT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01169.hp2 HG01175.hp1 others(22): Show HG00544.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02129.hp2 HG02273.hp2 HG02300.hp1 HG02683.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG04199.hp2 HG04204.hp1 NA18959.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016	a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0107 others(21): Show a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0002g0023 a0001c0001t0002g0247 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0188 a0001c0001t0004g0209 a0001c0001t0004g0217 a0001c0001t0016g0231	25	338	0.0740	-20	c.17 others(39): Show c.175-5350_*175-5331delACATTTGGTCCTAATATTTC	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM46_chr19_14107324_14117476	14109961	AAAAAATA others(13): Show AAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	331	0.0030	-20	c.23 others(31): Show c.2343_*2362delATATATATATATATATTTTT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2362		chr19	TogoVar
SMIM46_chr19_14107324_14117476	14109963	AAAATATA others(13): Show AAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	287	0.0035	-20	c.23 others(31): Show c.2341_*2360delATATATATATATATATATTT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2360		chr19	TogoVar
SMIM46_chr19_14107324_14117476	14109965	AATATATA others(13): Show AATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	172	0.0058	-20	c.23 others(31): Show c.2339_*2358delATATATATATATATATATAT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2358		chr19	TogoVar
SMN1_chr5_70920087_70958015	70932540	ATTTTTCT others(13): Show ATTTTTCTCTCTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	36	0.0278	-20	c.82- others(35): Show c.82-6296_82-6277delTTTCTCTCTTTTTTTTTTTT	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMOC1_chr14_69874416_70037366	69878699	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG01074.hp2 others(31): Show HG00733.hp1 HG00733.hp2 HG01074.hp2 HG01081.hp1 HG01257.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02145.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03704.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18989.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0019 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0003t0004 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 others(30): Show a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0003g0056 a0001c0001t0008g0062 a0001c0001t0015g0054 a0001c0001t0019g0064 a0001c0001t0031g0053 a0001c0002t0001g0117 a0001c0002t0002g0151 a0001c0003t0004g0120 a0001c0005t0001g0033 a0001c0005t0001g0069	34	39	0.8718	-20	c.-97 others(29): Show c.-979_-960delTGTGTGTGTGTGTGTGTGTG	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		716		chr14	TogoVar
SMOC1_chr14_69874416_70037366	69961272	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02896.hp1 HG02897.hp1 others(2): Show HG00741.hp2 HG02896.hp1 HG02897.hp1 HG03834.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0001t0001 a0001c0001t0008 a0001c0002t0002	a0001c0001t0001g0187 a0001c0001t0008g0002 a0001c0002t0002g0156 others(1): Show a0001c0001t0001g0187 a0001c0001t0008g0002 a0001c0002t0002g0156 a0001c0002t0002g0262	5	74	0.0676	-20	c.378 others(37): Show c.378+7768_378+7787delATATATATATATATATATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168467136	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp1 HG02109.hp1 others(10): Show HG01167.hp1 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02559.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0013 a0001c0002 a0001c0008 a0001c0013	a0001c0002t0002 a0001c0008t0002 a0001c0013t0002 a0001c0002t0002 a0001c0008t0002 a0001c0013t0002	a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 others(10): Show a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0180 a0001c0008t0002g0042 a0001c0013t0002g0033	13	51	0.2549	-20	c.84+ others(37): Show c.84+25709_84+25728delACACACACACACACACACAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168513466	TACACACA others(13): Show TACACACACACACATACATAC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	177	0.0056	-20	c.256 others(37): Show c.256+3394_256+3413delTACATACACACACACACACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168551423	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(40): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG01243.hp1 HG02293.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02738.hp1 HG02970.hp2 HG03139.hp1 HG03225.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18950.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18990.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19065.hp1 NA19068.hp1 NA19080.hp2 NA19085.hp1 NA20752.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0002t0002 a0001c0004t0005 a0005c0006t0012	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(40): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0003g0084 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0169 a0001c0001t0004g0129 a0001c0001t0006g0160 a0001c0001t0011g0119 a0001c0002t0002g0022 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0180 a0001c0004t0005g0049 a0001c0004t0005g0051 a0005c0006t0012g0018	43	58	0.7414	-20	c.637 others(37): Show c.637+2248_637+2267delATTTATTTATTTATTTATTT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOX_chr20_4143828_4192727	4168883	CTATTTTA others(13): Show CTATTTTATTTTATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG01243.hp2 others(31): Show HG00323.hp1 HG00423.hp2 HG01243.hp2 HG01891.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp2 NA18906.hp1 NA18945.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18961.hp1 NA18968.hp2 NA18983.hp2 NA18986.hp1 NA18995.hp1 NA18999.hp2 NA19009.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0001g0100 others(30): Show a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0001g0100 a0001c0001t0001g0331 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0370 a0001c0001t0006g0372 a0001c0002t0001g0021 a0001c0002t0001g0144 a0001c0002t0001g0156 a0001c0002t0001g0254 a0001c0002t0001g0294 a0001c0002t0001g0334 a0001c0002t0002g0335 a0001c0003t0001g0022 a0001c0003t0001g0039 a0001c0003t0001g0097 a0001c0003t0001g0099 a0001c0003t0001g0103 a0001c0003t0001g0177 a0001c0003t0001g0333 a0001c0003t0001g0341 a0001c0003t0001g0348 a0001c0003t0001g0356 a0001c0003t0001g0359 a0001c0003t0001g0361 a0001c0003t0001g0362 a0001c0003t0001g0364 a0001c0004t0001g0246 a0001c0006t0001g0040 a0001c0006t0001g0336 a0001c0008t0001g0180	34	99	0.3434	-20	c.-26 others(37): Show c.-26-6098_-26-6079delTTTATTTTATTTTATTTTAT	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMPD1_chr11_6385474_6399996	6387249	CATATATA others(13): Show CATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01070.hp2 HG01261.hp2 others(4): Show HG00423.hp2 HG01070.hp2 HG01261.hp2 HG02559.hp2 HG02735.hp2 HG03239.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0001 a0002c0002t0001 a0006c0009t0001 a0001c0001t0001 a0002c0002t0001 a0006c0009t0001	a0001c0001t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0002 others(1): Show a0001c0001t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0002 a0006c0009t0001g0015	7	74	0.0946	-20	c.-33 others(31): Show c.-3349_-3330delATATATATATATATATATAT	SMPD1	ENSG00000166311.10	transcript	ENST00000342245.9	protein_coding		3224		chr11	TogoVar
SMPD2_chr6_109435724_109448919	109436675	CACGCCAC others(13): Show CACGCCACTGCACTCCAGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	436	0.0023	-20	c.-44 others(31): Show c.-4446_-4427delACGCCACTGCACTCCAGCCT	SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding		4048		chr6	TogoVar

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