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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLX9_chr21_44935029_44981973	44981929	CGGGCCCT others(37): Show CGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCACGGGGGACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG03669.hp1 HG01978.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0178 a0001c0001t0001g0179	2	334	0.0060	-44	c.51 others(55): Show c.5127_*5170delGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCA CGGGGGACAG		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding					4957		chr21	TogoVar
SMIM10L1_chr12_11166194_11181016	11168263	AGAAAGAA others(37): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(51): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00621.hp2 HG00741.hp1 HG01106.hp1 HG01175.hp2 HG01517.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp1 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19009.hp1 NA19062.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 others(7): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0014g0000 others(7): Show a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0014g0000 a0001c0001t0030g0000 a0001c0001t0031g0000 a0001c0001t0032g0000 a0001c0001t0034g0000 a0001c0001t0035g0000 a0001c0003t0001g0000 a0001c0004t0001g0000	54	397	0.1360	-44	c.-30 others(55): Show c.-3093_-3050delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAGGAAG		SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding					2930		chr12	TogoVar
SMIM35_chr11_117998634_118091963	118048554	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	408	0.0025	-44	c.8-3 others(59): Show c.8-32789_8-32746delGCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT		SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4						chr11	TogoVar
SMKR1_chr7_129497531_129517918	129512411	TCCCAAAG others(37): Show TCCCAAAGGAAAGAAAGGGAGAAGCAAGTGACAGCATTTCACAAC	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG04115.hp2 HG04115.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0067 a0006c0005t0005g0067	1	422	0.0024	-44	c.169 others(51): Show c.169_*14delCCCAAAGGAAAGAAAGGGAGAAGCAAGTGACAGCATTT CACAAC	p.Pro others(4): Show p.Pro57fs	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding	2/2	463/969	169/198	57/65			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063237	TTATTTAT others(37): Show TTATTTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	264	0.0038	-44	c.56- others(59): Show c.56-1444_56-1401delTATATATATATATATATATATATATATATA TATATATATAAATA		SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17						chr7	TogoVar
SNRPD3_chr22_24550999_24579971	24555094	CCGCCACC others(37): Show CCGCCACCGCCGCCGCTGCGGAGGAGAGAACGGGAGGCGGCGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0266 a0001c0002t0002g0266	1	400	0.0025	-44	c.-99 others(53): Show c.-995_-952delCGCCACCGCCGCCGCTGCGGAGGAGAGAACGGGAGG CGGCGGCT		SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding					904		chr22	TogoVar
SNTG2_chr2_945849_1372613	1316875	GAGGCCAG others(37): Show GAGGCCAGCATTGGAGAAGGTTGGGATTCTGGAGCATTGAGCATC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02976.hp1 others(2): Show HG01891.hp1 HG02559.hp2 HG02976.hp1 HG03225.hp2 HG03579.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0015 a0004c0004 a0005c0015	a0004c0004t0001 a0005c0015t0001 a0004c0004t0001 a0005c0015t0001	a0004c0004t0001g0047 a0004c0004t0001g0089 a0004c0004t0001g0116 others(2): Show a0004c0004t0001g0047 a0004c0004t0001g0089 a0004c0004t0001g0116 a0005c0015t0001g0103 a0005c0015t0001g0153	5	190	0.0263	-44	c.148 others(61): Show c.1488+581_1488+624delTGAGCATCAGGCCAGCATTGGAGAAGGT TGGGATTCTGGAGCAT		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1317231	CCAGCATT others(37): Show CCAGCATTGGAGAAGGTTGGGATTCTGGAGCATTTAGCATCAGGG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0103 a0005c0015t0001g0103	1	190	0.0053	-44	c.148 others(61): Show c.1488+900_1488+943delGCAGCATTGGAGAAGGTTGGGATTCTGG AGCATTTAGCATCAGG		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1317304	GCATTTAG others(37): Show GCATTTAGCATCAGGCCAGCATTGGAGAAGGTTGGGATTCTGGAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp1 HG03225.hp2 others(1): Show HG01891.hp1 HG02976.hp1 HG03225.hp2 HG03579.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0015 a0004c0004 a0005c0015	a0004c0004t0001 a0005c0015t0001 a0004c0004t0001 a0005c0015t0001	a0004c0004t0001g0047 a0004c0004t0001g0089 a0004c0004t0001g0116 others(1): Show a0004c0004t0001g0047 a0004c0004t0001g0089 a0004c0004t0001g0116 a0005c0015t0001g0153	4	190	0.0211	-44	c.148 others(61): Show c.1488+940_1488+983delCAGGCCAGCATTGGAGAAGGTTGGGATT CTGGAACATTTAGCAT		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1317664	CATCAGGT others(37): Show CATCAGGTCAGCATTGGAGAAGGTTGGGATTCTGGAACATTTAGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0108 a0003c0007t0001g0108	1	190	0.0053	-44	c.148 others(63): Show c.1488+1296_1488+1339delTCAGCATTGGAGAAGGTTGGGATTCT GGAACATTTAGTATCAGG		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1317671	TCAGCATT others(37): Show TCAGCATTGGAGAAGGTTGGGATTCTGGAACATTTAGTATCAGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02976.hp1 others(2): Show HG01891.hp1 HG02559.hp2 HG02976.hp1 HG03225.hp2 HG03579.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0015 a0004c0004 a0005c0015	a0004c0004t0001 a0005c0015t0001 a0004c0004t0001 a0005c0015t0001	a0004c0004t0001g0047 a0004c0004t0001g0089 a0004c0004t0001g0116 others(2): Show a0004c0004t0001g0047 a0004c0004t0001g0089 a0004c0004t0001g0116 a0005c0015t0001g0103 a0005c0015t0001g0153	5	190	0.0263	-44	c.148 others(63): Show c.1488+1325_1488+1368delACATTTAGTATCAGGCCAGCATTGGA GAAGGTTGGGATTCTGGA		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX29_chr16_11971734_12579287	12117046	TTCAATAC others(37): Show TTCAATACGTGCTTCAATGCGGACGAACCATGGAAACAGGCGTGG	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18990.hp1 HG01257.hp2 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0075 a0001c0002t0022 a0001c0002t0075	a0001c0002t0022g0007 a0001c0002t0075g0129 a0001c0002t0022g0007 a0001c0002t0075g0129	2	176	0.0114	-44	c.140 others(63): Show c.1403-9571_1403-9528delATGCGGACGAACCATGGAAACAGGCG TGGTCAATACGTGCTTCA		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12117157	CGAACCAT others(37): Show CGAACCATGGAAACAGGCACGGTCAATACGTGCTTCAACGCGGAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0075 a0001c0003t0062g0075	1	176	0.0057	-44	c.140 others(63): Show c.1403-9470_1403-9427delATGGAAACAGGCACGGTCAATACGTG CTTCAACGCGGATGAACC		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12117195	CGCGGATG others(37): Show CGCGGATGAACCGTGGAAACAGGCATGGTCAATACGTGCTTCAAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01261.hp2 HG01346.hp2 others(16): Show HG01099.hp1 HG01261.hp2 HG01346.hp2 HG01981.hp2 HG02040.hp2 HG02109.hp1 HG02451.hp1 HG02523.hp1 HG02615.hp2 HG02965.hp2 HG03540.hp2 NA18942.hp1 NA18969.hp2 NA18979.hp1 NA18986.hp1 NA18990.hp2 NA19043.hp2 NA19085.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0021	a0001c0001t0002 a0001c0001t0034 a0001c0002t0024 others(15): Show a0001c0001t0002 a0001c0001t0034 a0001c0002t0024 a0001c0002t0090 a0001c0002t0106 a0001c0003t0006 a0001c0003t0011 a0001c0003t0016 a0001c0003t0025 a0001c0003t0026 a0001c0003t0029 a0001c0003t0056 a0001c0003t0104 a0001c0004t0003 a0001c0004t0084 a0001c0004t0085 a0001c0004t0098 a0001c0021t0111	a0001c0001t0002g0081 a0001c0001t0034g0063 a0001c0002t0024g0050 others(16): Show a0001c0001t0002g0081 a0001c0001t0034g0063 a0001c0002t0024g0050 a0001c0002t0090g0170 a0001c0002t0106g0123 a0001c0003t0006g0144 a0001c0003t0011g0098 a0001c0003t0016g0029 a0001c0003t0025g0010 a0001c0003t0025g0083 a0001c0003t0026g0012 a0001c0003t0029g0053 a0001c0003t0056g0033 a0001c0003t0104g0156 a0001c0004t0003g0161 a0001c0004t0084g0135 a0001c0004t0085g0023 a0001c0004t0098g0045 a0001c0021t0111g0035	19	176	0.1080	-44	c.140 others(63): Show c.1403-9432_1403-9389delTGAACCGTGGAAACAGGCATGGTCAA TACGTGCTTCAATGCGGA		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12117370	GTGCGGAC others(37): Show GTGCGGACGAACCGTGGAAACAGGCGTGGTCAATACGTGCTTCAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA21309.hp1 HG01175.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0027 a0002c0005t0039 a0001c0001t0027 a0002c0005t0039	a0001c0001t0027g0082 a0002c0005t0039g0013 a0001c0001t0027g0082 a0002c0005t0039g0013	2	176	0.0114	-44	c.140 others(63): Show c.1403-9218_1403-9175delTGCGGACGAACCGTGGAAACAGGCGT GGTCAATACGTGCTTCAA		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(37): Show TACACACACACACACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02976.hp1 HG03209.hp1 others(1): Show HG02015.hp1 HG02976.hp1 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0021 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0029	4	364	0.0110	-44	c.11 others(55): Show c.1181_*1224delACACACACACACACACACACACACACACACACAC ACACACACAC		SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding					124		chr21	TogoVar
SORBS2_chr4_185580523_185817194	185731725	TGCCTGTC others(37): Show TGCCTGTCTCTCTCCCTCCCTCCCTATCTCTCTCCCTCCCTCCCC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0283 a0001c0008t0007g0283	1	312	0.0032	-44	c.-41 others(61): Show c.-41+2330_-41+2373delGGGGAGGGAGGGAGAGAGATAGGGAGGG AGGGAGAGAGACAGGC		SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26						chr4	TogoVar
SOX11_chr2_5687384_5706385	5706288	AGAGGAGC others(37): Show AGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG03540.hp2 others(6): Show HG02559.hp1 HG02723.hp1 HG03540.hp2 NA18962.hp1 NA18998.hp1 NA19005.hp1 NA19030.hp2 NA19060.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0020 others(4): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0047 a0001c0001t0124	a0001c0001t0001g0000 a0001c0001t0016g0000 a0001c0001t0020g0000 others(4): Show a0001c0001t0001g0000 a0001c0001t0016g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0022g0000 a0001c0001t0047g0000 a0001c0001t0124g0000	9	434	0.0207	-44	c.12 others(57): Show c.12242_*12285delGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGG GAGGCTGGGGTG		SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding					4904		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706340	AGGGAGGC others(37): Show AGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGAAGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02622.hp1 HG02735.hp2 others(5): Show HG01099.hp2 HG02622.hp1 HG02735.hp2 NA18906.hp1 NA18960.hp1 NA18983.hp2 NA19060.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0027 others(4): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0027 a0001c0001t0031 a0001c0001t0082 a0001c0001t0086 a0001c0001t0186	a0001c0001t0008g0000 a0001c0001t0011g0000 a0001c0001t0027g0000 others(4): Show a0001c0001t0008g0000 a0001c0001t0011g0000 a0001c0001t0027g0000 a0001c0001t0031g0000 a0001c0001t0082g0000 a0001c0001t0086g0000 a0001c0001t0186g0000	8	434	0.0184	-44	c.12 others(57): Show c.12294_*12337delGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGG GGTGGAGAAGCT		SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding					4956		chr2	TogoVar
SOX1_chr13_112062149_112076706	112074973	GATATTTA others(37): Show GATATTTAGTGGCAGCAATAGCACTCTGCGCTAGTCCTATGCACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	1	388	0.0026	-44	c.61 others(55): Show c.6140_*6183delATATTTAGTGGCAGCAATAGCACTCTGCGCTAGT CCTATGCACT		SOX1	ENSG00000182968.5	transcript	ENST00000330949.3	protein_coding					3268		chr13	TogoVar
SOX6_chr11_15961449_16361546	16132299	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	218	0.0046	-44	c.778 others(63): Show c.778-20420_778-20377delTCTTTTTTCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16132307	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0169	1	218	0.0046	-44	c.778 others(63): Show c.778-20428_778-20385delTCTTTCTTTCTTTTTTCTTTCCTTCC TTCCTTCCTTCCTTCCTT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16132398	GAAAAAAG others(37): Show GAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	218	0.0046	-44	c.778 others(63): Show c.778-20519_778-20476delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTTT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SP100_chr2_230411201_230550606	230435933	AATGAGAT others(37): Show AATGAGATCATGTCCTTTGCAGGGACATGGATGAAGCTGGAGGCC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0239 a0001c0001t0005g0239	1	290	0.0035	-44	c.108 others(61): Show c.108-7001_108-6958delGAGATCATGTCCTTTGCAGGGACATGGA TGAAGCTGGAGGCCAT		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230436943	CATATATG others(37): Show CATATATGTGTATACACACACATATATATGTGTATACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	290	0.0035	-44	c.108 others(61): Show c.108-5972_108-5929delTATATATGTGTATACACACACATATATA TGTGTATACACACACA		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPADH_chr10_122667850_122684494	122671446	GGGAGAAA others(37): Show GGGAGAAACAACTGGGCTCCCAGCCCAGCAGTGTCGGTCTGTTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	414	0.0024	-44	c.-14 others(55): Show c.-1435_-1392delGGAGAAACAACTGGGCTCCCAGCCCAGCAGTGTC GGTCTGTTCT		SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding					1403		chr10	TogoVar
SPAG16_chr2_213279464_214415501	213913573	ATATATGT others(37): Show ATATATGTACATGTACATATATGTATATGTACATGTACATATATG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03098.hp1 HG03225.hp1 others(2): Show HG02559.hp1 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0001 a0001c0001t0002 a0005c0005t0001	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0072 a0005c0005t0001g0005	5	86	0.0581	-44	c.121 others(65): Show c.1215-16331_1215-16288delGTACATATATGTATATGTACATGT ACATATATGTATATGTACAT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG9_chr17_50957174_51125868	51076997	GCTATCTA others(37): Show GCTATCTAGCTAGCTAGCTAGCTATCTAGCTATCTATCTAGCTAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01167.hp1 HG00140.hp2 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0182 a0001c0001t0004g0189 a0001c0001t0004g0182 a0001c0001t0004g0189	2	292	0.0069	-44	c.424 others(61): Show c.424+2543_424+2586delATAGCTAGATAGATAGCTAGATAGCTAG CTAGCTAGCTAGATAG		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29						chr17	TogoVar
SPATA33_chr16_89652836_89675458	89655962	GCCCGGCC others(37): Show GCCCGGCCTCCCAGAGTGCTGGGGTTACAGGCCTGAGCCACCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA19089.hp1 NA19090.hp2 NA18990.hp2 NA19089.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	3	422	0.0071	-44	c.-19 others(55): Show c.-1949_-1906delCCCGGCCTCCCAGAGTGCTGGGGTTACAGGCCTG AGCCACCACA		SPATA33	ENSG00000167523.15	transcript	ENST00000579310.6	protein_coding					1873		chr16	TogoVar
SPATA6_chr1_48290373_48477204	48382607	TCCCGGAC others(37): Show TCCCGGACGGGGCGGCTGGCCGACCCCCCCCCCCCCGCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0049 a0002c0002t0005g0049	1	322	0.0031	-44	c.909 others(61): Show c.909+2658_909+2701delGAGGGAGGCGGGGGGGGGGGGGTCGGCC AGCCGCCCCGTCCGGG		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384329	GGACAGGG others(37): Show GGACAGGGACAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02896.hp1 others(5): Show HG02451.hp2 HG02630.hp1 HG02896.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017	a0001c0001t0008g0242 a0001c0001t0008g0243 a0001c0001t0008g0251 others(5): Show a0001c0001t0008g0242 a0001c0001t0008g0243 a0001c0001t0008g0251 a0001c0001t0011g0240 a0001c0001t0011g0245 a0001c0001t0011g0252 a0001c0001t0017g0241 a0001c0001t0017g0248	8	322	0.0248	-44	c.909 others(59): Show c.909+936_909+979delTCCCTCTCCCTCTCCCTCTCCCTGTCCCTG TCCCTGTCCCTGTC		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPATS2L_chr2_200301693_200487264	200352311	TTTTATAT others(37): Show TTTTATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0009 a0001c0001t0010g0009	1	300	0.0033	-44	c.-23 others(63): Show c.-23+22833_-23+22876delTTATATATATATATATATATATATAT ATATATATATATATATAT		SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200480351	TTTTTGAG others(37): Show TTTTTGAGACAGGGTCTTGCTCTATCACCTAGGCTGGAGTGCATG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01517.hp2 HG02258.hp2 HG02280.hp2 others(17): Show HG01517.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG03225.hp1 HG03516.hp1 HG03579.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18981.hp1 NA19003.hp1 NA19056.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0051 a0001c0002t0006 others(3): Show a0001c0001t0006 a0001c0001t0051 a0001c0002t0006 a0001c0002t0016 a0001c0002t0045 a0001c0002t0070	a0001c0001t0006g0044 a0001c0001t0051g0149 a0001c0002t0006g0019 others(17): Show a0001c0001t0006g0044 a0001c0001t0051g0149 a0001c0002t0006g0019 a0001c0002t0006g0065 a0001c0002t0006g0093 a0001c0002t0006g0094 a0001c0002t0006g0112 a0001c0002t0006g0113 a0001c0002t0006g0114 a0001c0002t0006g0115 a0001c0002t0006g0116 a0001c0002t0006g0117 a0001c0002t0006g0133 a0001c0002t0016g0279 a0001c0002t0016g0280 a0001c0002t0016g0281 a0001c0002t0016g0282 a0001c0002t0016g0284 a0001c0002t0045g0291 a0001c0002t0070g0147	20	300	0.0667	-44	c.23 others(55): Show c.2325_*2368delGAGACAGGGTCTTGCTCTATCACCTAGGCTGGAG TGCATGTTTT		SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	13/13				2325	INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73137785	GGAAGGGG others(37): Show GGAAGGGGAGGGGAAGGAGAGGAGAAGGGGAGGGGAAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG00733.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0120 a0001c0002t0001g0078 a0001c0002t0001g0120	2	216	0.0093	-44	c.-64 others(65): Show c.-640+17494_-640+17537delTCCTCTCCTTCCCCTCCCCTTCTC CTCTCCTTCCCCTCCCCTTC		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8						chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156134	ACACACTC others(37): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 NA18998.hp2 HG03831.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0121 a0001c0002t0001g0048 a0001c0002t0001g0121	2	216	0.0093	-44	c.-14 others(55): Show c.-1495_-1452delAGAGAGAGAGACAGACAGAGAGAGAGAGAGAGAG AGAGAGTGTG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					704		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156138	ACTCTCTC others(37): Show ACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02572.hp1 HG02723.hp2 others(2): Show HG01433.hp2 HG02572.hp1 HG02723.hp2 HG02886.hp2 HG03516.hp2	a0002 a0007 a0002 a0007	a0002c0004 a0007c0013 a0002c0004 a0007c0013	a0002c0004t0004 a0007c0013t0022 a0002c0004t0004 a0007c0013t0022	a0002c0004t0004g0123 a0002c0004t0004g0125 a0002c0004t0004g0126 others(2): Show a0002c0004t0004g0123 a0002c0004t0004g0125 a0002c0004t0004g0126 a0002c0004t0004g0127 a0007c0013t0022g0006	5	216	0.0232	-44	c.-14 others(55): Show c.-1499_-1456delAGAGAGAGAGAGAGACAGACAGAGAGAGAGAGAG AGAGAGAGAG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					708		chr7	TogoVar
SPECC1_chr17_20004359_20324026	20076820	TGACAGTA others(37): Show TGACAGTATCATGGGGAAAAAAGAGTAAGAAAAACAGAACCAGCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0162 a0001c0001t0102g0162	1	250	0.0040	-44	c.-21 others(63): Show c.-21-19800_-21-19757delTGGGGAAAAAAGAGTAAGAAAAACAG AACCAGCCGACAGTATCA		SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPIB_chr19_50413938_50436314	50435614	AGGTGGCC others(37): Show AGGTGGCCTTTCCCAGGTCAGGAAAAGCCATTTAACCCCCATGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0058 a0001c0003t0025g0058	1	388	0.0026	-44	c.72 others(55): Show c.7279_*7322delGGTGGCCTTTCCCAGGTCAGGAAAAGCCATTTAA CCCCCATGAT		SPIB	ENSG00000269404.7	transcript	ENST00000595883.6	protein_coding					4301		chr19	TogoVar
SPIDR_chr8_47255938_47741306	47588026	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	216	0.0046	-44	c.109 others(63): Show c.1098-7767_1098-7724delTATATATATATATATATATATATATA TATATATATATATATATA		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIRE2_chr16_89823475_89876319	89848438	TGGCGTTT others(37): Show TGGCGTTTCTGCAGGACAGACGAGGCAGGTTCCAGGGCCTTCTGC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02896.hp1 HG02897.hp1 HG01081.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0064 a0001c0011t0001g0318 a0001c0011t0001g0319 a0001c0001t0001g0064 a0001c0011t0001g0318 a0001c0011t0001g0319	3	356	0.0084	-44	c.289 others(61): Show c.289-1822_289-1779delCGGCGTTTCTGCAGGACAGACGAGGCAG GTTCCAGGGCCTTCTG		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89848738	GCCTTCTG others(37): Show GCCTTCTGTGGTGTTTCTGCAGGACAGACGAGGCAGGTTCCAGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	356	0.0028	-44	c.289 others(61): Show c.289-1522_289-1479delACCTTCTGTGGTGTTTCTGCAGGACAGA CGAGGCAGGTTCCAGG		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01109.hp1 HG02132.hp1 others(10): Show HG00544.hp1 HG01109.hp1 HG02132.hp1 HG02523.hp1 HG03486.hp2 HG03654.hp1 HG03942.hp1 HG04228.hp1 NA18747.hp1 NA18952.hp1 NA18989.hp1 NA19064.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(10): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0060 a0001c0001t0064 a0001c0001t0120 a0001c0001t0130 a0001c0001t0148 a0001c0001t0150 a0001c0002t0026 a0001c0002t0084 a0002c0003t0118	a0001c0001t0004g0126 a0001c0001t0005g0136 a0001c0001t0008g0204 others(10): Show a0001c0001t0004g0126 a0001c0001t0005g0136 a0001c0001t0008g0204 a0001c0001t0011g0146 a0001c0001t0060g0223 a0001c0001t0064g0066 a0001c0001t0120g0199 a0001c0001t0130g0154 a0001c0001t0148g0198 a0001c0001t0150g0231 a0001c0002t0026g0167 a0001c0002t0084g0020 a0002c0003t0118g0197	13	231	0.0563	-44	c.-28 others(65): Show c.-282+25679_-282+25722delATATATATATATATATATATATAT ATATATATATATATATATAT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SQLE_chr8_124993505_125027283	125010988	GCACAGAA others(37): Show GCACAGAAATTTAAAGCTTGTTTGGAAGTATCTCAGAGATGAGCT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0136 a0001c0005t0001g0136	1	378	0.0027	-44	c.110 others(61): Show c.1109-548_1109-505delCACAGAAATTTAAAGCTTGTTTGGAAGT ATCTCAGAGATGAGCT		SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding	6/10						chr8	TogoVar
SRC_chr20_37341140_37411050	37361826	GGTAGAGA others(37): Show GGTAGAGATGTAGAGATGCCGGGGTCTCTGTGTGCAGGTAGAGAT	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp2 HG01109.hp1 others(34): Show HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01891.hp2 HG02071.hp1 HG02145.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03927.hp1 NA18522.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0043 a0001c0001t0047 a0001c0003t0023 a0001c0004t0039 a0001c0005t0025	a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0070 others(34): Show a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0173 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0029 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0236 a0001c0001t0006g0241 a0001c0001t0009g0053 a0001c0001t0009g0267 a0001c0001t0011g0248 a0001c0001t0011g0249 a0001c0001t0011g0250 a0001c0001t0015g0192 a0001c0001t0022g0272 a0001c0001t0029g0176 a0001c0001t0031g0232 a0001c0001t0035g0193 a0001c0001t0036g0251 a0001c0001t0043g0235 a0001c0001t0047g0238 a0001c0003t0023g0265 a0001c0004t0039g0237 a0001c0005t0025g0023	37	282	0.1312	-44	c.-24 others(63): Show c.-246-3368_-246-3325delTAGAGATGCCGGGGTCTCTGTGTGCA GGTAGAGATGTAGAGATG		SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
SRGAP2C_chr1_121179975_121397874	121239246	CTATATAT others(37): Show CTATATATATATATATATATACTATATATATATATACTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02886.hp1 others(5): Show HG02572.hp2 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0019 a0001c0003t0053 others(1): Show a0001c0003t0004 a0001c0003t0019 a0001c0003t0053 a0001c0003t0055	a0001c0003t0004g0258 a0001c0003t0004g0263 a0001c0003t0004g0266 others(5): Show a0001c0003t0004g0258 a0001c0003t0004g0263 a0001c0003t0004g0266 a0001c0003t0004g0267 a0001c0003t0004g0269 a0001c0003t0019g0259 a0001c0003t0053g0264 a0001c0003t0055g0265	8	274	0.0292	-44	c.68- others(61): Show c.68-45546_68-45503delTATATATATACTATATATATATATACTA TATATATATATATATA		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRMS_chr20_63533489_63552749	63550325	TGGCCGGG others(37): Show TGGCCGGGTGAGGCGGCTCACTCCTGTAATACCAGCATCTGGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0002 a0015c0021t0002	a0015c0021t0002g0071 a0015c0021t0002g0071	1	356	0.0028	-44	c.-29 others(55): Show c.-2906_-2863delTCCCCAGATGCTGGTATTACAGGAGTGAGCCGCC TCACCCGGCC		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2577		chr20	TogoVar
SRPK2_chr7_105111374_105393921	105170836	GAAGAAAG others(37): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0144 a0003c0006t0001g0144	1	282	0.0036	-44	c.230 others(61): Show c.230-1615_230-1572delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15						chr7	TogoVar
SRRM3_chr7_76196896_76292287	76227091	TCCCATGT others(37): Show TCCCATGTGCTGCTCTCAGCCAATCAGTGGTAGGGTAAAGACTTC	T T	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0313 a0002c0002t0003g0313	1	324	0.0031	-44	c.-39 others(61): Show c.-39-7934_-39-7891delCATGTGCTGCTCTCAGCCAATCAGTGGT AGGGTAAAGACTTCCC		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SSBP2_chr5_81407804_81756097	81501228	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0009 a0001c0001t0029g0009	1	206	0.0049	-44	c.373 others(63): Show c.373-11963_373-11920delGTGTATATATATATATATATATATAT ATATATATATATATATAT		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	5/16						chr5	TogoVar
SSU72_chr1_1536673_1579863	1554141	TGAAGCTG others(37): Show TGAAGCTGAGCACGAGGCGGATCCGGACCACTAAGGGGTCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp2 NA19030.hp1 HG01891.hp1 HG02818.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0265 a0001c0001t0004g0269 a0001c0001t0004g0270	3	386	0.0078	-44	c.225 others(61): Show c.225-9183_225-9140delGTGGGGACCCCTTAGTGGTCCGGATCCG CCTCGTGCTCAGCTTC		SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	2/4						chr1	TogoVar

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