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
SMIM17_chr19_56638159_56662247	56647420	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp2 HG03486.hp2 HG02451.hp2 HG03130.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0036 a0001c0001t0012 a0001c0001t0036	a0001c0001t0012g0199 a0001c0001t0012g0200 a0001c0001t0036g0105 a0001c0001t0012g0199 a0001c0001t0012g0200 a0001c0001t0036g0105	3	418	0.0072	18	c.170 others(33): Show c.170-124_170-107dupAGAGAGAGAGAGAGAGAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM31_chr4_164749131_164808795	164758801	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0081	1	364	0.0028	18	c.-26 others(35): Show c.-26+4413_-26+4430dupTTTTTTTTTTTTTTTTTT	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM35_chr11_117998634_118091963	118021047	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01975.hp1 HG02055.hp2 others(19): Show HG00280.hp2 HG01975.hp1 HG02055.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp2 HG04228.hp1 NA18612.hp2 NA18943.hp1 NA18955.hp2 NA19043.hp2 NA19091.hp2 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0007 a0002c0002t0011 a0002c0002t0029 others(1): Show a0002c0002t0007 a0002c0002t0011 a0002c0002t0029 a0003c0003t0020	a0002c0002t0007g0003 a0002c0002t0007g0010 a0002c0002t0007g0011 others(19): Show a0002c0002t0007g0003 a0002c0002t0007g0010 a0002c0002t0007g0011 a0002c0002t0007g0033 a0002c0002t0007g0041 a0002c0002t0007g0087 a0002c0002t0007g0141 a0002c0002t0007g0167 a0002c0002t0007g0215 a0002c0002t0007g0218 a0002c0002t0007g0228 a0002c0002t0007g0229 a0002c0002t0007g0299 a0002c0002t0007g0317 a0002c0002t0011g0364 a0002c0002t0011g0366 a0002c0002t0011g0368 a0002c0002t0011g0370 a0002c0002t0011g0386 a0002c0002t0011g0402 a0002c0002t0029g0043 a0003c0003t0020g0004	22	408	0.0539	18	c.8-5 others(31): Show c.8-5239_8-5238insAAAAAAAAAAAAAAAAAA	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118045330	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01993.hp1 HG02056.hp2 others(10): Show HG01975.hp1 HG01993.hp1 HG02056.hp2 HG02155.hp2 HG02300.hp1 HG03130.hp1 HG03831.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18947.hp1 NA18965.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0002c0002t0005 a0002c0002t0007	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0021 others(10): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0161 a0001c0001t0004g0026 a0001c0001t0004g0152 a0001c0001t0004g0316 a0001c0001t0006g0015 a0002c0002t0005g0323 a0002c0002t0007g0010 a0002c0002t0007g0317 a0002c0002t0007g0318	13	408	0.0319	18	c.8-2 others(33): Show c.8-29539_8-29522dupTGTGTGTGTGTGTGTGTG	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118048946	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02055.hp1 HG02572.hp2 others(2): Show HG02040.hp1 HG02055.hp1 HG02572.hp2 HG03540.hp1 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0002c0002t0007 a0003c0003t0013	a0001c0001t0001g0235 a0001c0001t0003g0042 a0001c0001t0010g0358 others(2): Show a0001c0001t0001g0235 a0001c0001t0003g0042 a0001c0001t0010g0358 a0002c0002t0007g0214 a0003c0003t0013g0217	5	408	0.0123	18	c.8-3 others(33): Show c.8-33155_8-33138dupTTTTTTTTTTTTTTTTTT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118051825	G G	GATACTAA others(11): Show GATACTAATACTAATACTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01346.hp1 HG02647.hp1 others(3): Show HG01255.hp2 HG01346.hp1 HG02647.hp1 HG03486.hp2 NA18992.hp2 NA18998.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0002c0002t0002 a0002c0002t0005 a0003c0003t0021	a0001c0001t0001g0108 a0001c0001t0003g0109 a0001c0001t0010g0360 others(3): Show a0001c0001t0001g0108 a0001c0001t0003g0109 a0001c0001t0010g0360 a0002c0002t0002g0119 a0002c0002t0005g0357 a0003c0003t0021g0053	6	408	0.0147	18	c.7+3 others(33): Show c.7+34908_7+34925dupTAGTATTAGTATTAGTAT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55500790	A A	ATGTATTA others(11): Show ATGTATTATTATAATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01891.hp2 others(18): Show HG01192.hp1 HG01257.hp2 HG01891.hp2 HG01928.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014	a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0302 others(18): Show a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0302 a0001c0001t0002g0306 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0322 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0006g0319 a0001c0001t0006g0323 a0001c0001t0006g0330 a0001c0001t0008g0285 a0001c0001t0008g0287 a0001c0001t0008g0318 a0001c0001t0008g0320 a0001c0001t0008g0321 a0001c0001t0008g0324 a0001c0001t0011g0317 a0001c0001t0014g0279 a0001c0001t0014g0286	21	340	0.0618	18	c.17 others(39): Show c.174+10088_*174+10089insATATATTATAATAATACA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55508431	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03540.hp1 NA18906.hp1 HG03225.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253	3	340	0.0088	18	c.17 others(37): Show c.174+2430_*174+2447dupATATATATATATATATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMKR1_chr7_129497531_129517918	129499488	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	422	0.0024	18	c.-33 others(29): Show c.-3337_-3336insTTTTTTTTTTTTTTTTTT	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		3042		chr7	TogoVar
SMN1_chr5_70920087_70958015	70936151	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG02818.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0020 a0001c0001t0001g0021	2	36	0.0556	18	c.82- others(33): Show c.82-2672_82-2671insTTTTTTTTTTTTTTTTTT	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMN2_chr5_70044669_70082595	70049196	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 NA18965.hp1 HG03225.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0012 a0001c0001t0001g0013	2	108	0.0185	18	c.-49 others(27): Show c.-490_-489insACACACACACACACACAC	SMN2	ENSG00000205571.15	transcript	ENST00000380743.9	protein_coding		472		chr5	TogoVar
SMOC1_chr14_69874416_70037366	69924968	G G	GCAGGGGA others(11): Show GCAGGGGAGCTAGGGGAGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18522.hp1 HG02818.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0050 a0001c0001t0001g0051	2	270	0.0074	18	c.100 others(37): Show c.100-27170_100-27169insCAGGGGAGCTAGGGGAGC	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11			chr14	TogoVar
SMOC1_chr14_69874416_70037366	69965377	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01256.hp1 others(11): Show HG00741.hp1 HG01109.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01517.hp2 HG02559.hp2 HG02647.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03516.hp1 NA18522.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0012 a0001c0001 a0001c0003 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0003t0004 a0002c0012t0001	a0001c0001t0001g0125 a0001c0001t0001g0155 a0001c0001t0001g0228 others(10): Show a0001c0001t0001g0125 a0001c0001t0001g0155 a0001c0001t0001g0228 a0001c0001t0002g0003 a0001c0001t0006g0230 a0001c0001t0008g0062 a0001c0001t0014g0106 a0001c0001t0015g0054 a0001c0001t0015g0153 a0001c0001t0016g0078 a0001c0001t0017g0176 a0001c0003t0004g0120 a0002c0012t0001g0107	14	270	0.0519	18	c.379 others(37): Show c.379-10326_379-10309dupTAATAATAATAATAATAA	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC1_chr14_69874416_70037366	69965404	T T	TAATAATA others(11): Show TAATAATAATAATAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0024 a0001c0004t0005g0024	1	270	0.0037	18	c.379 others(37): Show c.379-10309_379-10308insTAATAATAATAAAAAAAA	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC1_chr14_69874416_70037366	69965404	T T	TAATAATA others(11): Show TAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01081.hp2 others(8): Show HG00639.hp2 HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG02148.hp2 HG03710.hp2 NA18747.hp2 NA18950.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0004t0006 a0001c0002t0001 a0001c0002t0002 a0001c0004t0006	a0001c0002t0001g0137 a0001c0002t0002g0138 a0001c0002t0002g0169 others(8): Show a0001c0002t0001g0137 a0001c0002t0002g0138 a0001c0002t0002g0169 a0001c0002t0002g0180 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0002g0242 a0001c0002t0002g0253 a0001c0002t0002g0256 a0001c0002t0002g0262 a0001c0004t0006g0201	11	270	0.0407	18	c.379 others(37): Show c.379-10309_379-10308insTAATAATAATAATAAAAA	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168448396	G G	GATGGGGA others(11): Show GATGGGGAGGAGGATGGCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	180	0.0056	18	c.84+ others(33): Show c.84+6953_84+6970dupGGATGGCAATGGGGAGGA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168599581	A A	ACACACAC others(11): Show ACACACACCCACATACCCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	180	0.0056	18	c.824 others(33): Show c.824+589_824+590insTACCCCCACACACCCACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168599611	A A	ACACATAC others(11): Show ACACATACCCCCACACACC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	180	0.0056	18	c.824 others(33): Show c.824+611_824+612insTACCCCCACACACCCACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168664384	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02809.hp1 HG03130.hp2 HG01167.hp1 HG02809.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0002 a0001c0002t0002 a0001c0008t0002	a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0008t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0008t0002g0042	3	180	0.0167	18	c.132 others(35): Show c.1323+288_1323+305dupTTTTTTTTTTTTTTTTTT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOX_chr20_4143828_4192727	4166115	G G	GTTGTCAG others(11): Show GTTGTCAGAATGTGATCTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03579.hp2 HG03139.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0401 a0001c0003t0001g0402 a0001c0001t0001g0401 a0001c0003t0001g0402	2	428	0.0047	18	c.-26 others(35): Show c.-26-8907_-26-8906insATGTGATCTATTGTCAGA	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMOX_chr20_4143828_4192727	4166115	G G	GTTGTCAG others(11): Show GTTGTCAGAGTGTGATCTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01496.hp2 HG02083.hp2 others(14): Show HG01099.hp2 HG01496.hp2 HG02083.hp2 HG02723.hp2 HG03041.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03654.hp2 HG03688.hp1 NA18946.hp2 NA18966.hp2 NA18968.hp1 NA19060.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0035 a0001c0002t0001g0013 a0001c0002t0001g0189 others(12): Show a0001c0001t0001g0035 a0001c0002t0001g0013 a0001c0002t0001g0189 a0001c0002t0001g0194 a0001c0002t0001g0265 a0001c0003t0001g0005 a0001c0003t0001g0244 a0001c0003t0001g0305 a0001c0003t0001g0347 a0001c0004t0001g0272 a0001c0005t0001g0030 a0001c0005t0001g0302 a0001c0005t0001g0320 a0001c0005t0001g0335 a0001c0005t0001g0337	17	428	0.0397	18	c.-26 others(35): Show c.-26-8880_-26-8863dupTATTGTCAGAGTGTGATC	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMO_chr7_129183633_129218545	129196327	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0085 a0001c0001t0027g0085	1	410	0.0024	18	c.331 others(35): Show c.331+6857_331+6874dupGTGTGTGTGTGTGTGTGT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMPD2_chr6_109435724_109448919	109448097	G G	GACACACA others(11): Show GACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	438	0.0023	18	c.41 others(29): Show c.4192_*4193insACACACACACACACACAC	SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding		4179		chr6	TogoVar
SMR3B_chr4_70378131_70395244	70391000	T T	TATATATA others(11): Show TATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	462	0.0022	18	c.11 others(29): Show c.1152_*1153insATATATATATATATATAC	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		757		chr4	TogoVar
SMS_chrX_21935709_21999837	21988662	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01928.hp1 HG01978.hp2 others(6): Show HG00544.hp2 HG01928.hp1 HG01978.hp2 NA18612.hp1 NA18942.hp1 NA18970.hp1 NA18971.hp1 NA18981.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0001g0234 others(6): Show a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0008g0237	9	298	0.0302	18	c.945 others(35): Show c.945+3452_945+3469dupAAAAAAAAAAAAAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMTNL2_chr17_4579529_4613319	4606163	C C	CCAGGCTG others(11): Show CCAGGCTGGAGTGCAATCG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	442	0.0023	18	c.126 others(37): Show c.1260-1195_1260-1178dupGGCTGGAGTGCAATCGCA	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMTN_chr22_31076318_31109624	31107583	G G	GCCCCGCC others(11): Show GCCCCGCCCCCGCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(16): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01975.hp1 HG01981.hp1 HG02486.hp2 HG02717.hp2 NA18956.hp2 NA18967.hp2 NA18977.hp2 NA19012.hp1 NA19058.hp2 NA19063.hp1 NA19081.hp1 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0088 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0002g0001 a0001c0001t0002g0039	19	362	0.0525	18	c.32 others(29): Show c.3288_*3289insCCCCGCCCCCGCCCCCGC	SMTN	ENSG00000183963.19	transcript	ENST00000333137.12	protein_coding		2960		chr22	TogoVar
SMTN_chr22_31076318_31109624	31107602	C C	CCCCGCCC others(11): Show CCCCGCCCCCGCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	362	0.0028	18	c.33 others(29): Show c.3307_*3308insCCCGCCCCCGCCCCCACT	SMTN	ENSG00000183963.19	transcript	ENST00000333137.12	protein_coding		2979		chr22	TogoVar
SMU1_chr9_33036765_33081674	33039536	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 NA18906.hp2 NA18950.hp2 HG03704.hp2 NA18906.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0069 a0001c0001t0002 a0001c0001t0005 a0001c0001t0069	a0001c0001t0002g0024 a0001c0001t0005g0044 a0001c0001t0069g0056 a0001c0001t0002g0024 a0001c0001t0005g0044 a0001c0001t0069g0056	3	418	0.0072	18	c.77 others(29): Show c.7756_*7757insATATATATATATATATAT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding		2228		chr9	TogoVar
SMU1_chr9_33036765_33081674	33049764	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02129.hp1 HG03209.hp1 others(3): Show HG01975.hp1 HG02129.hp1 HG03209.hp1 HG03704.hp2 HG04199.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0083 others(1): Show a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0083 a0001c0001t0008g0048	6	418	0.0144	18	c.129 others(37): Show c.1291-1524_1291-1507dupTGTGTGTGTGTGTGTGTG	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding	10/11			chr9	TogoVar
SMUG1_chr12_54175366_54193985	54190332	G G	GCACAGCC others(11): Show GCACAGCCAAGGATCTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02486.hp1 others(7): Show HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG03130.hp1 HG03130.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0006 a0002c0002t0009 a0004c0005t0006 a0001c0001t0006 a0002c0002t0009 a0004c0005t0006	a0001c0001t0006g0055 a0002c0002t0009g0048 a0002c0002t0009g0093 others(5): Show a0001c0001t0006g0055 a0002c0002t0009g0048 a0002c0002t0009g0093 a0002c0002t0009g0109 a0002c0002t0009g0125 a0002c0002t0009g0133 a0002c0002t0009g0148 a0004c0005t0006g0088	10	438	0.0228	18	c.-14 others(29): Show c.-1486_-1485insATTAGATCCTTGGCTGTG	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding		1348		chr12	TogoVar
SMURF2_chr17_64537282_64667307	64566561	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	174	0.0058	18	c.101 others(37): Show c.1017-3613_1017-3596dupAAAAAAAAAAAAAAAAAA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	10/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64605744	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20300.hp1 HG02886.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0024 a0001c0001t0016 a0001c0002t0024	a0001c0001t0016g0043 a0001c0002t0024g0167 a0001c0001t0016g0043 a0001c0002t0024g0167	2	174	0.0115	18	c.91+ others(31): Show c.91+840_91+857dupATATATATATATATATAT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	2/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64613673	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0091 a0001c0001t0041g0091	1	174	0.0058	18	c.53- others(33): Show c.53-7051_53-7034dupACACACACACACACACAC	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18			chr17	TogoVar
SMYD2_chr1_214276159_214342131	214299465	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp1 NA18954.hp2 HG01884.hp2 HG02922.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0263 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0001g0263 a0001c0001t0003g0031 a0001c0001t0003g0034	3	380	0.0079	18	c.174 others(35): Show c.174-5721_174-5704dupTATATATATATATATATA	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245791952	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0114 a0002c0003t0002g0114	1	150	0.0067	18	c.107 others(39): Show c.1077-27821_1077-27804dupCACACACACACACACACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245797828	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	150	0.0067	18	c.107 others(39): Show c.1077-33697_1077-33680dupTTTTTTTTTTTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245833073	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAACACAAC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	150	0.0067	18	c.107 others(39): Show c.1076+25422_1076+25423insGTTGTGTTTTTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245896389	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	150	0.0067	18	c.813 others(37): Show c.813+19140_813+19141insTTTTTTTTTTTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	8/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245921547	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	150	0.0067	18	c.703 others(35): Show c.703-5908_703-5907insTATATATATATATATATA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	7/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246023807	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02165.hp1 HG02451.hp1 others(3): Show HG00738.hp1 HG02165.hp1 HG02451.hp1 HG03491.hp1 HG03831.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0012t0002	a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0002g0017 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0002t0001g0062 a0001c0012t0002g0074	6	150	0.0400	18	c.532 others(37): Show c.532-93888_532-93871dupCACACACACACACACACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246125077	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02886.hp1 HG03195.hp2 HG00735.hp2 HG02886.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 a0001c0001t0001 a0001c0006t0001 a0002c0003t0001	a0001c0001t0001g0018 a0001c0006t0001g0048 a0002c0003t0001g0137 a0001c0001t0001g0018 a0001c0006t0001g0048 a0002c0003t0001g0137	3	150	0.0200	18	c.532 others(39): Show c.532-195141_532-195140insGTGTGTGTGTGTGTGTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246125079	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	150	0.0067	18	c.532 others(39): Show c.532-195143_532-195142insGTGTGTGTGTGTGTGTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246310186	C C	CTGTGGGA others(11): Show CTGTGGGACTCCTATCCCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03225.hp2 NA18522.hp2 HG02145.hp2 HG03225.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0108 a0002c0003t0002g0114 a0002c0003t0002g0150 a0002c0003t0001g0108 a0002c0003t0002g0114 a0002c0003t0002g0150	3	150	0.0200	18	c.531 others(37): Show c.531+17014_531+17015insTGGGATAGGAGTCCCACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246348060	T T	TCATATAT others(11): Show TCATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0098 a0002c0004t0001g0098	1	150	0.0067	18	c.228 others(35): Show c.228+6970_228+6971insTATATATATATATATATG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	2/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246348060	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02257.hp1 HG02451.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0123 a0002c0007t0001g0132 a0002c0007t0001g0123 a0002c0007t0001g0132	2	150	0.0133	18	c.228 others(35): Show c.228+6953_228+6970dupTATATATATATATATATA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	2/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481593	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0099 a0002c0003t0001g0099	1	150	0.0067	18	c.164 others(37): Show c.164+25460_164+25461insATATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481621	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0106 a0002c0005t0002g0106	1	150	0.0067	18	c.164 others(37): Show c.164+25432_164+25433insGTGTATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481621	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	150	0.0067	18	c.164 others(37): Show c.164+25432_164+25433insGTATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD4_chr17_1774485_1834902	1794105	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0027 a0003c0003t0004g0027	1	390	0.0026	18	c.153 others(37): Show c.1537+5751_1537+5752insAAAAAAAATATATATATA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar

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