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
RP1L1_chr8_10601349_10660143	10610127	T T	TCCTCTAA others(92): Show TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02132.hp2 NA18984.hp1 NA19070.hp2 HG02132.hp2 NA18984.hp1 NA19070.hp2	a0008 a0079 a0148 a0008 a0079 a0148	a0008c0142 a0079c0080 a0148c0112 a0008c0142 a0079c0080 a0148c0112	a0008c0142t0001 a0079c0080t0001 a0148c0112t0001 a0008c0142t0001 a0079c0080t0001 a0148c0112t0001	a0008c0142t0001g0212 a0079c0080t0001g0190 a0148c0112t0001g0009 a0008c0142t0001g0212 a0079c0080t0001g0190 a0148c0112t0001g0009	3	279	0.0108	99	c.397 others(108): Show c.3970_3971insGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGG GGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGG GTGCAGTTAGAGG	p.Glu others(114): Show p.Glu1323_Glu1324insGlyThrLysGluThrGluGluGlyLeuGln GluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGl uGluArgValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4235/8014	3970/7203	1324/2400			chr8	TogoVar
RPEL1_chr10_103240887_103253016	103251205	G G	GCCATCAC others(92): Show GCCATCACCACCTCCACCACCATCACCACCACCTCCACCACCACCACCAC CTCCACCGCCATCACCACCTCCACCACCATCACCATCTCCACCATCACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	331	0.0030	99	c.45 others(110): Show c.4522_*4523insCCATCACCACCTCCACCACCATCACCACCACCTC CACCACCACCACCACCTCCACCGCCATCACCACCTCCACCACCATCACCA TCTCCACCATCACCA		RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding					3190		chr10	TogoVar
RPH3AL_chr17_207389_357807	319924	G G	GGGAGGGG others(92): Show GGGAGGGGAGGGAGACTGAGGGGAGGGAGGGGGAGGGAGATTGAGGGGAG GGAGGGGGAGGGAGACTGAGGAGAGGGAGGGGGAGGGAGACTGAGGGGAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	53	0.0189	99	c.222 others(114): Show c.222-376_222-375insATCCCCTCAGTCTCCCTCCCCCTCCCTCTC CTCAGTCTCCCTCCCCCTCCCTCCCCTCAATCTCCCTCCCCCTCCCTCCC CTCAGTCTCCCTCCCCTCC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9						chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(92): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTC TCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	267	0.0037	99	c.-15 others(110): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTCTCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCT		RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding					1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(92): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0020 a0001c0001t0127g0020	1	267	0.0037	99	c.-15 others(110): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTC		RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding					1102		chr19	TogoVar
RSKR_chr17_28602963_28619185	28604080	G G	GGGCTGAC others(92): Show GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG03831.hp2 HG01168.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	2	11	0.1818	99	c.63 others(110): Show c.6397_*6398insACCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGAGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCC		RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding					3882		chr17	TogoVar
RSKR_chr17_28602963_28619185	28604080	G G	GGGCTGAC others(92): Show GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	10	0.1000	99	c.63 others(110): Show c.6397_*6398insACCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCC		RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding					3882		chr17	TogoVar
RSKR_chr17_28602963_28619185	28604086	A A	ACCCCCCC others(92): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGTGGCTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	357	0.0028	99	c.63 others(110): Show c.6391_*6392insGTCAGCCACCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGG		RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding					3876		chr17	TogoVar
RSKR_chr17_28602963_28619185	28604086	A A	ACCCCCCC others(92): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGTGGCTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02258.hp2 HG04184.hp1 HG01261.hp2 HG02258.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0002 a0001c0001t0002g0063 a0001c0001t0015g0015 a0001c0001t0002g0002 a0001c0001t0002g0063 a0001c0001t0015g0015	3	359	0.0084	99	c.63 others(110): Show c.6391_*6392insGTCAGCCACCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGG		RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding					3876		chr17	TogoVar
RSPH10B2_chr7_6749103_6803765	6797863	A A	ATACACAC others(92): Show ATACACACACACACACACACACACACACACACACATATACATACACACAC ACACACACATATATATACACACACATATATATATACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18999.hp2 NA18979.hp2 NA18999.hp2	a0002 a0004 a0002 a0004	a0002c0011 a0004c0003 a0002c0011 a0004c0003	a0002c0011t0001 a0004c0003t0001 a0002c0011t0001 a0004c0003t0001	a0002c0011t0001g0069 a0004c0003t0001g0008 a0002c0011t0001g0069 a0004c0003t0001g0008	2	78	0.0256	99	c.243 others(116): Show c.2433-500_2433-499insTACACACACACACACACACACACACACA CACACATATACATACACACACACACACACATATATATACACACACATATA TATATACACACACACACACAT		RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	20/20						chr7	TogoVar
RTEL1_chr20_63653312_63701245	63693606	A A	ACCTCCAC others(92): Show ACCTCCACCTCCACCTCCACCTCCACCACCACCACCACCTCCACCTCCAC CTCCACCTCCACCACCTCCACCACCTCCACCACCTTCACCACCACCACCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0043 a0003c0006t0001g0043	1	48	0.0208	99	c.299 others(116): Show c.2992+325_2992+326insTCCACCTCCACCTCCACCTCCACCACCA CCACCACCTCCACCTCCACCTCCACCTCCACCACCTCCACCACCTCCACC ACCTTCACCACCACCACCTCC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTL4_chrX_112078016_112462514	112310397	T T	TATATATA others(92): Show TATATATATATATATATATATATATGTAATATAATATACGTATATATAAT ATAGAAATATAATATATATTTCTATATTATATATACGTATATTATATTAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18989.hp1 HG02738.hp1 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0008 a0001c0002t0002 a0002c0001t0008	a0001c0002t0002g0134 a0002c0001t0008g0021 a0001c0002t0002g0134 a0002c0001t0008g0021	2	126	0.0159	99	c.-28 others(118): Show c.-285+3895_-285+3896insATATATGTAATATAATATACGTATAT ATAATATAGAAATATAATATATATTTCTATATTATATATACGTATATTAT ATTACATATATATATATATATAT		RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
RUNDC3B_chr7_87623398_87837296	87626091	T T	TATATATA others(92): Show TATATATATTGTCATATATATGTGTCATATATATTGTCATATATATGTGT CATATATATTGTCATATATATGTGTCATATATATGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0120 a0001c0001t0026g0120	1	143	0.0070	99	c.-27 others(110): Show c.-2733_-2732insATATATATTGTCATATATATGTGTCATATATATT GTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATATG TCATATATATGTGTC		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					2306		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626269	T T	TATGTCAT others(92): Show TATGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATA TTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	130	0.0077	99	c.-25 others(110): Show c.-2555_-2554insATGTCATATATATGTGTCATATATATGTCATATA TATGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATA TATGTGTCATATATA		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					2128		chr7	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(92): Show TATAATATATAATTATATAATATATATTATATATAATATATATATATTAT ATATAATATATAATATATATAATATATATTTATATATTATATATAATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	29	0.0345	99	c.193 others(118): Show c.193-29585_193-29584insTATATTATATATAATATATAAATATA TATTATATATATTATATATTATATATAATATATATATATTATATATAATA TATATTATATAATTATATATTAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3						chr8	TogoVar
SARDH_chr9_133658560_133743352	133669171	T T	TCCCCTCA others(92): Show TCCCCTCACCCTCCCTCTCCCTCACCTTCCCTCTCCCCTTACCCTCCCTC TCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCTCTCCTTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0008 a0003c0017t0001g0008	1	247	0.0040	99	c.249 others(118): Show c.2495+1412_2495+1413insGAGAGGGAAGGAGAGGGAGAGGGAGG GTGAGGGAGAGGGAGGATGAGGGAGAGGGAGGGTAAGGGGAGAGGGAAGG TGAGGGAGAGGGAGGGTGAGGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78448100	T T	TCCTCTCC others(92): Show TCCTCTCCCCCTCCCCCTTCCCCTCTTCCACTCCTCCCTCCTCCCCGCTC CTCTCCCCTCCTCCTCCTTCCTCCTCCTTCCTCCCCTTTCCTCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0142 a0001c0001t0018g0142	1	139	0.0072	99	c.633 others(116): Show c.633-1833_633-1832insCCTCTCCCCCTCCCCCTTCCCCTCTTCC ACTCCTCCCTCCTCCCCGCTCCTCTCCCCTCCTCCTCCTTCCTCCTCCTT CCTCCCCTTTCCTCCCCCCCC		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8						chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCCTT others(92): Show CCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18959.hp1 HG01069.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0246 a0001c0001t0001g0238 a0001c0001t0001g0246	2	166	0.0120	99	c.852 others(116): Show c.852+1461_852+1462insCCTTCCTTCCTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCCTT others(92): Show CCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0211 a0001c0001t0019g0211	1	165	0.0061	99	c.852 others(116): Show c.852+1461_852+1462insCCTTCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCCTT others(92): Show CCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19067.hp2 HG03834.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0192 a0001c0001t0001g0201	2	166	0.0120	99	c.852 others(116): Show c.852+1461_852+1462insCCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CTTTCTTT others(92): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	165	0.0061	99	c.852 others(116): Show c.852+1458_852+1459insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8						chr5	TogoVar
SCD5_chr4_82624539_82803796	82712297	T T	TATATATA others(92): Show TATATATACATATATATATATATATATACGTATATATATATACATATATA TATATATATACGTATATATATATATATATATACACATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	195	0.0051	99	c.233 others(116): Show c.233-6885_233-6884insTATATATATATATATGTGTATATATATA TATATATATACGTATATATATATATATATGTATATATATATACGTATATA TATATATATATATGTATATAT		SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4						chr4	TogoVar
SCD5_chr4_82624539_82803796	82712297	T T	TATATATA others(92): Show TATATATACATATATATATATATATATACGTATATATATATACATATATA TATATATATACGTATATATATATATATATATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	195	0.0051	99	c.233 others(116): Show c.233-6885_233-6884insTATATATATATATATGTATATATATATA TATATATATACGTATATATATATATATATGTATATATATATACGTATATA TATATATATATATGTATATAT		SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4						chr4	TogoVar
SCD5_chr4_82624539_82803796	82712297	T T	TATATATA others(92): Show TATATATATATATACATATATATATATATATACGTATATATATATACATA TATATATATACGTATATATATATATATATATATATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	195	0.0051	99	c.233 others(116): Show c.233-6885_233-6884insTATATATATATATGTATATATATATATA TATATATATACGTATATATATATATGTATATATATATACGTATATATATA TATATATGTATATATATATAT		SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4						chr4	TogoVar
SCGB1C1_chr11_188078_199575	196113	C C	CTGGTGAG others(92): Show CTGGTGAGGGGACATGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(20): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp2 HG01081.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02273.hp1 HG02698.hp2 HG02809.hp2 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	23	223	0.1031	99	c.16 others(110): Show c.1663_*1664insTGGTGAGGGGACATGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATAGGGGGACCT		SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding					1539		chr11	TogoVar
SCML4_chr6_107697154_107829313	107802689	C C	CTCTCCCT others(92): Show CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0163 a0001c0003t0015g0163	1	182	0.0055	99	c.-60 others(118): Show c.-60+21436_-60+21437insAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGA		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(92): Show GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	227	0.0044	99	c.166 others(116): Show c.1663-422_1663-421insTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280957	T T	TCAGCCAT others(92): Show TCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCCTC TTTGGCCACCCTCCTGTCACCTCCCCCTCAGCCACCCTCCTGTCACCTCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0088 a0003c0001t0001g0090 a0003c0001t0001g0088 a0003c0001t0001g0090	2	239	0.0084	99	c.484 others(118): Show c.484+10088_484+10089insGGAGGTGACAGGAGGGTGGCTGAGGG GGAGGTGACAGGAGGGTGGCCAAAGAGGGAGGTGACAGGAGGGTGGCCAA GGGAGGTGACAGGAGGATGGCTG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SDK2_chr17_73329384_73649445	73614688	T T	TTTGAAAA others(92): Show TTTGAAAAGGGGGAGGGAGGGAGGGGCACAAGGATTGAAAAGGGGGAGGG AGGGAGGGGCACAAGGATTGAAAAGGGGGAGGGAGGGAGGGGCACAAGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	164	0.0061	99	c.64+ others(116): Show c.64+29336_64+29337insTCCTTGTGCCCCTCCCTCCCTCCCCCTT TTCAATCCTTGTGCCCCTCCCTCCCTCCCCCTTTTCAATCCTTGTGCCCC TCCCTCCCTCCCCCTTTTCAA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73614714	C C	CACAAGGA others(92): Show CACAAGGATTGAAAAGGGGGAGGGAGGGAGGGGCACAAGGATTGAAAAGG GGGAGGGAGGGAGGGGGACAAGGATTGAAAAGGGGGAGGGAGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01167.hp2 others(27): Show HG00099.hp1 HG00733.hp1 HG01167.hp2 HG01243.hp2 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG02129.hp2 HG02145.hp2 HG02258.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03834.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18942.hp1 NA19010.hp2 NA19043.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0013 a0018 a0027	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0001c0026 a0001c0052 a0001c0084 a0001c0109 a0002c0028 a0003c0017 a0004c0011 a0005c0012 a0005c0075 a0007c0019 a0008c0044 a0008c0047 a0008c0090 a0013c0078 a0018c0076 a0027c0114	a0001c0001t0002 a0001c0001t0009 a0001c0002t0010 others(27): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0010 a0001c0002t0096 a0001c0003t0011 a0001c0003t0020 a0001c0005t0017 a0001c0010t0001 a0001c0010t0043 a0001c0013t0013 a0001c0013t0100 a0001c0015t0004 a0001c0016t0028 a0001c0018t0008 a0001c0026t0035 a0001c0052t0007 a0001c0084t0088 a0001c0109t0049 a0002c0028t0060 a0003c0017t0084 a0004c0011t0091 a0005c0012t0058 a0005c0075t0020 a0007c0019t0075 a0008c0044t0023 a0008c0047t0023 a0008c0090t0023 a0013c0078t0005 a0018c0076t0034 a0027c0114t0094	a0001c0001t0002g0027 a0001c0001t0009g0122 a0001c0002t0010g0184 others(27): Show a0001c0001t0002g0027 a0001c0001t0009g0122 a0001c0002t0010g0184 a0001c0002t0096g0125 a0001c0003t0011g0068 a0001c0003t0020g0156 a0001c0005t0017g0106 a0001c0010t0001g0036 a0001c0010t0043g0070 a0001c0013t0013g0193 a0001c0013t0100g0011 a0001c0015t0004g0151 a0001c0016t0028g0009 a0001c0018t0008g0016 a0001c0026t0035g0071 a0001c0052t0007g0057 a0001c0084t0088g0015 a0001c0109t0049g0007 a0002c0028t0060g0018 a0003c0017t0084g0150 a0004c0011t0091g0105 a0005c0012t0058g0041 a0005c0075t0020g0006 a0007c0019t0075g0017 a0008c0044t0023g0069 a0008c0047t0023g0019 a0008c0090t0023g0072 a0013c0078t0005g0010 a0018c0076t0034g0020 a0027c0114t0094g0179	30	99	0.3030	99	c.64+ others(116): Show c.64+29310_64+29311insCCCCCTCCCTCCCTCCCCCTTTTCAATC CTTGTCCCCCTCCCTCCCTCCCCCTTTTCAATCCTTGTGCCCCTCCCTCC CTCCCCCTTTTCAATCCTTGT		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44						chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13848538	A A	AGAAGAAG others(92): Show AGAAGAAGAAGAAGAAGAAGAAGCAGGAGCAGGAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	320	0.0031	99	c.94 others(108): Show c.946_*947insCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTGCTCCTGCTTCTTCTT CTTCTTCTTCTTC		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					708		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(92): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAG GAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 NA19082.hp1 NA19087.hp1 HG03927.hp1 NA19082.hp1 NA19087.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0002 a0007c0010t0002 a0001c0001t0002 a0007c0010t0002	a0001c0001t0002g0004 a0001c0001t0002g0031 a0007c0010t0002g0035 a0001c0001t0002g0004 a0001c0001t0002g0031 a0007c0010t0002g0035	3	38	0.0789	99	c.92 others(108): Show c.929_*930insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCT TCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848619	A A	AGAGGAAG others(92): Show AGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	117	0.0085	99	c.86 others(108): Show c.865_*866insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCT CTTCCTCTTCCTC		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					627		chr20	TogoVar
SEMA3A_chr7_83950777_84199789	84091183	A A	AGAGAAAG others(92): Show AGAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	257	0.0039	99	c.453 others(118): Show c.453+19286_453+19287insCTTCCTTCCTTCCTTCCTTCTTTCTT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTT CCTTCCTTCTTTCTTTCTTTCTC		SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16						chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77484737	T T	TGGTGAAG others(92): Show TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0051 a0001c0007t0051	a0001c0007t0051g0008 a0001c0007t0051g0008	1	143	0.0070	99	c.913 others(116): Show c.913+2406_913+2407insAAGGGGGTGATGGTGGCGATTGTGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATT GTGATGGTGGTGAAGGGGGTG		SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484737	T T	TGGTGAAG others(92): Show TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0037 a0001c0004t0037	a0001c0004t0037g0152 a0001c0004t0037g0152	1	151	0.0066	99	c.859 others(116): Show c.859+2406_859+2407insAAGGGGGTGATGGTGGCGATTGTGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATT GTGATGGTGGTGAAGGGGGTG		SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431769	G G	GAGGGTGG others(92): Show GAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	362	0.0055	99	c.101 others(118): Show c.1014-1192_1014-1191insGATAGGGTGGTTAGGGTGGTTAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(92): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAG GGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0146 a0001c0003t0009g0146	1	259	0.0039	99	c.101 others(118): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(92): Show ATAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	337	0.0030	99	c.101 others(118): Show c.1014-1173_1014-1172insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(92): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0362 a0001c0001t0002g0362	1	337	0.0030	99	c.101 others(118): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGTTAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431778	T T	TAGGGTGG others(92): Show TAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0020 a0002c0008t0001g0020	1	322	0.0031	99	c.101 others(118): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432075	C C	CAGGGTGG others(92): Show CAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0350 a0002c0002t0001g0350	1	188	0.0053	99	c.101 others(116): Show c.1014-885_1014-884insATAGGGTGGAGAGGGTGGATAGGGTGGT TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432101	A A	ATAGGGTG others(92): Show ATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0213 a0002c0006t0003g0213	1	362	0.0028	99	c.101 others(116): Show c.1014-866_1014-865insTAGGGTGGATAGGGTGGAGAGGGTGGAG AGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGAGAGGGTGGT		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9						chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432164	A A	AGAGGGTG others(92): Show AGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAGAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0216 a0001c0004t0003g0216	1	325	0.0031	99	c.101 others(116): Show c.1014-803_1014-802insGAGGGTGGAGAGGGTGGATAGGGTGGAC AGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGATGGT		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9						chr1	TogoVar
SESN1_chr6_108979309_109099846	109047027	A A	ATCCGGGA others(92): Show ATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGTGCC ATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCATGCCG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	151	0.0066	99	c.280 others(118): Show c.280-44685_280-44684insCGGCATGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCAGATGGCACGGCTGGCCGGGCGGGGGGGGC TGACCCCCCACCTCCCTCCCGGA		SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9						chr6	TogoVar
SFMBT2_chr10_7153624_7416034	7378215	T T	TGATGGAT others(92): Show TGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	26	0.0385	99	c.100 others(116): Show c.100+3583_100+3584insCACCCATCCACACATACACCCACACACA CCCACACTCACACCCATCCATCACCCATCCACACATACACCCACACACAC CCACACTCACACCCATCCATC		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7378314	G G	GGATGGAT others(92): Show GGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GGATGGATGGGTGTGAGTGTGAGTGTGTGTGGGTGTATGTGTGGATGGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02451.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0092 a0001c0001t0009g0117 a0001c0001t0005g0092 a0001c0001t0009g0117	2	90	0.0222	99	c.100 others(116): Show c.100+3484_100+3485insACCCATCCACACATACACCCACACACAC TCACACTCACACCCATCCATCCACCCATCCACACATACACCCACACACAC CCACACTCACACCCATCCATC		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7378314	G G	GGATGGAT others(92): Show GGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01070.hp1 others(43): Show HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01993.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02602.hp2 HG02698.hp2 HG02723.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp1 NA18995.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0002c0005 a0003c0004 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0002t0001 a0001c0002t0007 a0001c0002t0024 a0001c0003t0006 a0001c0007t0002 a0002c0005t0001 a0003c0004t0007 a0005c0011t0010	a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0139 others(43): Show a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0139 a0001c0001t0002g0007 a0001c0001t0002g0063 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0093 a0001c0001t0003g0138 a0001c0001t0004g0056 a0001c0001t0004g0069 a0001c0001t0004g0121 a0001c0001t0005g0010 a0001c0001t0005g0064 a0001c0001t0007g0054 a0001c0001t0007g0068 a0001c0001t0008g0058 a0001c0001t0008g0102 a0001c0001t0009g0043 a0001c0001t0009g0055 a0001c0001t0010g0045 a0001c0001t0014g0053 a0001c0001t0015g0085 a0001c0001t0015g0087 a0001c0001t0016g0029 a0001c0001t0016g0077 a0001c0001t0019g0031 a0001c0001t0020g0050 a0001c0001t0020g0074 a0001c0001t0021g0088 a0001c0001t0021g0128 a0001c0001t0022g0001 a0001c0001t0029g0107 a0001c0001t0030g0041 a0001c0001t0032g0135 a0001c0002t0001g0011 a0001c0002t0001g0101 a0001c0002t0007g0038 a0001c0002t0024g0104 a0001c0003t0006g0018 a0001c0007t0002g0096 a0002c0005t0001g0059 a0003c0004t0007g0040 a0005c0011t0010g0049	46	134	0.3433	99	c.100 others(116): Show c.100+3484_100+3485insACCCATCCACACATACACCCACACACAC CCACACTCACACCCATCCATCCACCCATCCACACATACACCCACACACAC CCACACTCACACCCATCCATC		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20						chr10	TogoVar
SGIP1_chr1_66529153_66756139	66630831	G G	GAGAGAGA others(92): Show GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0124 a0002c0002t0004g0124	1	299	0.0033	99	c.75- others(114): Show c.75-2238_75-2237insGAGAGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAGAGAAAA		SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630833	A A	AAGAAAGA others(92): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0127 a0002c0002t0035g0127	1	288	0.0035	99	c.75- others(114): Show c.75-2222_75-2221insGAGAGAGAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAAGAGAAAGAAAGAAAGA		SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr1	TogoVar

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