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
SLC28A1_chr15_84879662_84950798	84928573	TCTTTCTT others(48): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTT TCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0366 a0002c0015t0003g0366	1	396	0.0025	-55	c.108 others(74): Show c.1083+4464_1084-4517delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTCTTTCTTTCTTTTCTTTCTTTC		SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18						chr15	TogoVar
SLC2A13_chr12_39750025_40111081	39807071	TGCCACTG others(48): Show TGCCACTGAAAGTAATTGCAACACATTAGGTTGGTGGAAAAGTAATTACA GTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02572.hp2 others(1): Show HG02055.hp2 HG02145.hp2 HG02572.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009	a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0008g0082 others(1): Show a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0008g0082 a0001c0001t0009g0007	4	214	0.0187	-55	c.144 others(76): Show c.1445+22977_1445+23031delGAAAACTGTAATTACTTTTCCACC AACCTAATGTGTTGCAATTACTTTCAGTGGC		SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	7/9						chr12	TogoVar
SLC44A1_chr9_105239651_105402346	105381580	AGAAGTAA others(48): Show AGAAGTAATTAACCATCTATGGAAATAACCCCAGAAAATGAGAAAGAAAA AAAATG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0142 a0001c0001t0071g0142	1	142	0.0070	-55	c.163 others(74): Show c.1633-1504_1633-1450delGAGAAAGAAAAAAAATGGAAGTAATT AACCATCTATGGAAATAACCCCAGAAAAT		SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC6A3_chr5_1387794_1450440	1416728	CAGCACGG others(48): Show CAGCACGGACTCATCCACACACAACATGACCGCAGCGTCCTAATAGCCCT CAGAAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp1 HG02970.hp1 others(2): Show HG02559.hp2 HG02896.hp1 HG02970.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0005 a0001c0006t0014 a0001c0008t0019 a0001c0006t0005 a0001c0006t0014 a0001c0008t0019	a0001c0006t0005g0008 a0001c0006t0005g0140 a0001c0006t0014g0302 others(1): Show a0001c0006t0005g0008 a0001c0006t0005g0140 a0001c0006t0014g0302 a0001c0008t0019g0040	5	373	0.0134	-55	c.928 others(70): Show c.928-582_928-528delCTTCTGAGGGCTATTAGGACGCTGCGGTCA TGTTGTGTGTGGATGAGTCCGTGCT		SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	6/14						chr5	TogoVar
SLIT1_chr10_96993038_97190959	97141675	TCGTATTG others(48): Show TCGTATTGTATCGTATCGTATCGTATCGTATTGTATTGTACTGTATTGTA TTGTAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02615.hp1 others(9): Show HG01884.hp2 HG02257.hp2 HG02615.hp1 HG02809.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0001c0019	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0006t0007 a0001c0008t0003 a0001c0019t0008	a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0115 others(9): Show a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0115 a0001c0001t0001g0160 a0001c0001t0004g0200 a0001c0005t0001g0045 a0001c0006t0007g0013 a0001c0008t0003g0060 a0001c0008t0003g0082 a0001c0008t0003g0084 a0001c0008t0003g0086 a0001c0019t0008g0059	12	256	0.0469	-55	c.413 others(74): Show c.413+16088_413+16142delGTACAATACAATACAGTACAATACAA TACGATACGATACGATACGATACAATACG		SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	4/36						chr10	TogoVar
SLIT1_chr10_96993038_97190959	97141676	CGTATTGT others(48): Show CGTATTGTATCGTATCGTATCGTATCGTATTGTATTGTACTGTATTGTAT TGTACT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	256	0.0039	-55	c.413 others(74): Show c.413+16087_413+16141delAGTACAATACAATACAGTACAATACA ATACGATACGATACGATACGATACAATAC		SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	4/36						chr10	TogoVar
SLIT3_chr5_168656740_169306139	168665676	GCCAGGAA others(48): Show GCCAGGAAGGAGAAGAGGGGTCCCCCAGTGGGTTCAGATACGGAAGCCAG GGCCAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp2 HG02145.hp2 HG02976.hp2 others(1): Show HG02015.hp2 HG02145.hp2 HG02976.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0015 a0001c0052 others(1): Show a0001c0003 a0001c0015 a0001c0052 a0002c0002	a0001c0003t0017 a0001c0015t0017 a0001c0052t0021 others(1): Show a0001c0003t0017 a0001c0015t0017 a0001c0052t0021 a0002c0002t0022	a0001c0003t0017g0050 a0001c0015t0017g0089 a0001c0052t0021g0003 others(1): Show a0001c0003t0017g0050 a0001c0015t0017g0089 a0001c0052t0021g0003 a0002c0002t0022g0038	4	132	0.0303	-55	c.72 others(64): Show c.723_*777delGTGGCCCTGGCTTCCGTATCTGAACCCACTGGGGGA CCCCTCTTCTCCTTCCTGG		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	36/36				723		chr5	TogoVar
SLX9_chr21_44935029_44981973	44978574	CGTGTGGG others(48): Show CGTGTGGGGCGGGTGTGGGGCGCGTGTGGAACGTGTGTGGGGCGCGTGTG GAGCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	334	0.0030	-55	c.17 others(66): Show c.1772_*1826delGTGTGGGGCGGGTGTGGGGCGCGTGTGGAACGTG TGTGGGGCGCGTGTGGAGCGG		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding					1602		chr21	TogoVar
SLX9_chr21_44935029_44981973	44981918	CGGGGCCT others(48): Show CGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCACGGG GGACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00597.hp2 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	2	334	0.0060	-55	c.51 others(66): Show c.5116_*5170delGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCG TGTGGTGTTCACGGGGGACAG		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding					4946		chr21	TogoVar
SMIM10L1_chr12_11166194_11181016	11168200	CGAAAGAA others(48): Show CGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	397	0.0025	-55	c.-31 others(66): Show c.-3156_-3102delGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAA		SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding					2993		chr12	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(48): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01175.hp2 others(19): Show HG01081.hp1 HG01106.hp1 HG01175.hp2 HG01884.hp2 HG02056.hp2 HG02273.hp1 HG02486.hp2 HG02559.hp2 HG02698.hp2 HG02922.hp2 HG03209.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 NA18944.hp1 NA18963.hp1 NA18963.hp2 NA18980.hp2 NA19064.hp1 NA19078.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0001t0001g0053 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0086 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0096 a0001c0001t0003g0123	22	380	0.0579	-55	c.17 others(66): Show c.1731_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAG		SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding					1017		chr13	TogoVar
SMIM46_chr19_14107324_14117476	14112410	GCTGCAGC others(48): Show GCTGCAGCCACAGCTGGAAGGTGGTCTCCAAGTCCCCACCCTGGCTGCTG CCTGAT	G G	frameshift_variant frameshift_variant	HIGH	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0000 a0002c0003t0001g0000	1	368	0.0027	-55	c.12_ others(60): Show c.12_66delATCAGGCAGCAGCCAGGGTGGGGACTTGGAGACCACCTTC CAGCTGTGGCTGCAG	p.Ser others(3): Show p.Ser5fs	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding	1/1	66/153	12/153	4/50			chr19	TogoVar
SMYD3_chr1_245744347_246512279	246072011	TAGTTCTG others(48): Show TAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGC ATCGTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	150	0.0067	-55	c.532 others(76): Show c.532-142129_532-142075delCACGATGCATCCACAGTGAGCACA GCGGAAAGCACACGAATCCCTCCCCAGAACT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SNED1_chr2_240993618_241100568	241091412	CCCTCCCC others(48): Show CCCTCCCCGTGTGCACTGCCATATGGTAGAATCCTGGTGCTCTAAGAACG CGGGGT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0025 a0001c0001t0020g0025	1	344	0.0029	-55	c.2- others(68): Show c.2-176_*2-122delCGGGGTCCTCCCCGTGTGCACTGCCATATGGT AGAATCCTGGTGCTCTAAGAACG		SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTB2_chr16_69182164_69314052	69292367	TATATATA others(48): Show TATATATATATATTATATATATATTATATATATATATATATTATATATAT ATTATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02922.hp2 HG03130.hp1 HG01433.hp2 HG02922.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0070 a0001c0002t0014g0071 a0001c0002t0014g0072 a0001c0002t0014g0070 a0001c0002t0014g0071 a0001c0002t0014g0072	3	218	0.0138	-55	c.134 others(74): Show c.1346-7222_1346-7168delATATATATATATTATATATATATTAT ATATATATATATATTATATATATATTATA		SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6						chr16	TogoVar
SOX6_chr11_15961449_16361546	16132294	GGAAGGAA others(48): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGA AAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19091.hp2 NA18994.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0102 a0001c0003t0002g0109 a0001c0001t0002g0102 a0001c0003t0002g0109	2	218	0.0092	-55	c.778 others(74): Show c.778-20426_778-20372delTTTCTTTCTTTTTTCTTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTC		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SPDL1_chr5_169578773_169609778	169606953	CAAAAAGA others(48): Show CAAAAAGAAAAGCTCAGGACCAGATGGTTGCACTAGTGAACTCTACCAAA TACTTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-55	c.27 others(66): Show c.2747_*2801delAAAAAGAAAAGCTCAGGACCAGATGGTTGCACTA GTGAACTCTACCAAATACTTA		SPDL1	ENSG00000040275.17	transcript	ENST00000265295.9	protein_coding					2176		chr5	TogoVar
SPNS3_chr17_4428940_4493204	4458452	TTCTTCTT others(48): Show TTCTTCTTTCTTTCTTTCCATTTTCTTTCTTTTCTTCTTTCTTTCTTTCT TTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG01192.hp2 others(30): Show HG00099.hp2 HG01074.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01516.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02630.hp1 HG02735.hp1 HG03195.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04228.hp1 NA18966.hp1 NA18966.hp2 NA19043.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0010 a0011	a0001c0001 a0001c0010 a0001c0013 others(11): Show a0001c0001 a0001c0010 a0001c0013 a0002c0002 a0002c0011 a0002c0022 a0002c0038 a0002c0040 a0002c0041 a0002c0044 a0003c0029 a0009c0036 a0010c0052 a0011c0042	a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 a0001c0010t0002 a0001c0013t0001 a0002c0002t0001 a0002c0011t0003 a0002c0022t0001 a0002c0038t0002 a0002c0040t0001 a0002c0041t0001 a0002c0044t0001 a0003c0029t0003 a0009c0036t0001 a0010c0052t0001 a0011c0042t0003	a0001c0001t0001g0034 a0001c0001t0002g0145 a0001c0010t0001g0084 others(30): Show a0001c0001t0001g0034 a0001c0001t0002g0145 a0001c0010t0001g0084 a0001c0010t0002g0081 a0001c0010t0002g0087 a0001c0010t0002g0088 a0001c0013t0001g0115 a0001c0013t0001g0359 a0002c0002t0001g0016 a0002c0002t0001g0094 a0002c0002t0001g0159 a0002c0002t0001g0232 a0002c0002t0001g0273 a0002c0002t0001g0276 a0002c0002t0001g0286 a0002c0002t0001g0291 a0002c0002t0001g0295 a0002c0002t0001g0355 a0002c0011t0003g0151 a0002c0011t0003g0256 a0002c0011t0003g0257 a0002c0011t0003g0260 a0002c0011t0003g0279 a0002c0011t0003g0285 a0002c0022t0001g0059 a0002c0038t0002g0323 a0002c0040t0001g0356 a0002c0041t0001g0313 a0002c0044t0001g0228 a0003c0029t0003g0085 a0009c0036t0001g0230 a0010c0052t0001g0060 a0011c0042t0003g0314	33	362	0.0912	-55	c.111 others(74): Show c.1113+5248_1113+5302delTCTTCTTTCTTTCTTTCCATTTTCTT TCTTTTCTTCTTTCTTTCTTTCTTTCTTC		SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11						chr17	TogoVar
SPON1_chr11_13957723_14273133	14252268	AGTGGGAA others(48): Show AGTGGGAATCCAGCGCTATGTATCTGCCTCAGCCGAAGGCAAGACCTGCG CAGAGT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03041.hp2 HG01516.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0160 a0002c0007t0001g0031 a0001c0001t0001g0160 a0002c0007t0001g0031	2	224	0.0089	-55	c.891 others(72): Show c.891-2128_891-2074delTCTGCCTCAGCCGAAGGCAAGACCTGCG CAGAGTGTGGGAATCCAGCGCTATGTA		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14252401	CTGCCTCA others(48): Show CTGCCTCAGCCGAAGGCAAGACCTGCGCAGAGTGTGGGAATCCAGCGCTA TGTACT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0201 a0001c0002t0003g0201	1	224	0.0045	-55	c.891 others(72): Show c.891-1973_891-1919delGCGCTATGTACTTGCCTCAGCCGAAGGC AAGACCTGCGCAGAGTGTGGGAATCCA		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SRBD1_chr2_45383680_45616267	45415667	GGGAGGGG others(48): Show GGGAGGGGAGGGGAGGGGACGGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	358	0.0028	-55	c.233 others(74): Show c.2334-2429_2334-2375delTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCCGTCCCCTCCCCTCCCCTCC		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20						chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415677	GGGAGGGG others(48): Show GGGAGGGGACGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19030.hp1 HG03579.hp1 NA19030.hp1	a0002 a0006 a0002 a0006	a0002c0004 a0006c0007 a0002c0004 a0006c0007	a0002c0004t0001 a0006c0007t0001 a0002c0004t0001 a0006c0007t0001	a0002c0004t0001g0107 a0006c0007t0001g0128 a0002c0004t0001g0107 a0006c0007t0001g0128	2	358	0.0056	-55	c.233 others(74): Show c.2334-2439_2334-2385delTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCTCTCCTCTCCCGTCCCCTCC		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20						chr2	TogoVar
SSC5D_chr19_55483436_55524099	55490051	CCGAGGGG others(48): Show CCGAGGGGAGAGGGACTGCCCTGCCAACCCCCACCCAGCGTGCCCTCCTG CCCCCA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02615.hp1 others(9): Show HG01109.hp2 HG01891.hp1 HG02615.hp1 HG02809.hp2 HG02818.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG06807.hp2 NA18522.hp2 NA20129.hp1 NA20300.hp1	a0002 a0008 a0010 others(3): Show a0002 a0008 a0010 a0032 a0043 a0065	a0002c0003 a0002c0044 a0008c0012 others(4): Show a0002c0003 a0002c0044 a0008c0012 a0010c0100 a0032c0072 a0043c0090 a0065c0063	a0002c0003t0001 a0002c0044t0002 a0008c0012t0001 others(4): Show a0002c0003t0001 a0002c0044t0002 a0008c0012t0001 a0010c0100t0001 a0032c0072t0001 a0043c0090t0001 a0065c0063t0001	a0002c0003t0001g0002 a0002c0003t0001g0278 a0002c0003t0001g0319 others(8): Show a0002c0003t0001g0002 a0002c0003t0001g0278 a0002c0003t0001g0319 a0002c0003t0001g0320 a0002c0003t0001g0384 a0002c0044t0002g0327 a0008c0012t0001g0279 a0010c0100t0001g0389 a0032c0072t0001g0353 a0043c0090t0001g0280 a0065c0063t0001g0354	12	412	0.0291	-55	c.475 others(69): Show c.475+58_475+112delGAGGGGAGAGGGACTGCCCTGCCAACCCCCA CCCAGCGTGCCCTCCTGCCCCCAC		SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108844952	TACAAAAA others(48): Show TACAAAAATTTGCAGGGTACACCTACAGTCCCAGCTACTCGGGAGGCTGA GACAGG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02886.hp1 HG02965.hp1 others(1): Show HG02257.hp2 HG02886.hp1 HG02965.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0010 a0001c0001t0089 a0001c0010t0036 others(1): Show a0001c0001t0010 a0001c0001t0089 a0001c0010t0036 a0001c0010t0037	a0001c0001t0010g0241 a0001c0001t0089g0309 a0001c0010t0036g0311 others(1): Show a0001c0001t0010g0241 a0001c0001t0089g0309 a0001c0010t0036g0311 a0001c0010t0037g0310	4	332	0.0121	-55	c.110 others(72): Show c.110+7631_110+7685delCCTGTCTCAGCCTCCCGAGTAGCTGGGA CTGTAGGTGTACCCTGCAAATTTTTGT		SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14						chr12	TogoVar
STK32C_chr10_132202492_132312950	132261089	GGGAGGAC others(48): Show GGGAGGACTCGGGGACTACGAGCTTAGGCCTTGGAGACGATCACTGCTTC CCATGC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	368	0.0027	-55	c.263 others(74): Show c.263-15189_263-15135delGCATGGGAAGCAGTGATCGTCTCCAA GGCCTAAGCTCGTAGTCCCCGAGTCCTCC		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11						chr10	TogoVar
STK3_chr8_98449633_98830688	98825820	CCCGCCCC others(48): Show CCCGCCCCGCCCCCGGCCGCCCCGCCCCGCCCCCGGCCGCCCCGCCCCGC CCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02895.hp2 others(1): Show HG01891.hp1 HG02145.hp1 HG02895.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0166 a0001c0001t0002g0005 a0001c0001t0003g0165 others(1): Show a0001c0001t0001g0166 a0001c0001t0002g0005 a0001c0001t0003g0165 a0001c0001t0003g0167	4	170	0.0235	-55	c.-33 others(64): Show c.-335_-281delCCGGGGGCGGGGCGGGGCGGCCGGGGGCGGGGCGGG GCGGCCGGGGGCGGGGCGG		STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding					133		chr8	TogoVar
STK4_chr20_44961512_45085021	45005861	TTTTTCTC others(48): Show TTTTTCTCTTTTTTGAATATAGTTTACTGAGGCATGGATTTCTAAGTGGA CTCTTA	T T	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	328	0.0031	-55	c.114 others(74): Show c.1147+4519_1147+4573delTTTGAATATAGTTTACTGAGGCATGG ATTTCTAAGTGGACTCTTATTTTCTCTTT		STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
STOML3_chr13_38960925_38995831	38988479	TTTTATAT others(48): Show TTTTATATCATATATTTTATATATAATATATTTTATATCATATATTTTAT ATATAA	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	396	0.0025	-55	c.52+ others(70): Show c.52+2136_52+2190delTTATATATAAAATATATGATATAAAATATA TTATATATAAAATATATGATATAAA		STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6						chr13	TogoVar
STON1_chr2_48525154_48603513	48564425	CTTCTTCT others(48): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0269 a0001c0003t0012g0269	1	376	0.0027	-55	c.-47 others(74): Show c.-47-16105_-47-16051delTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STX2_chr12_130784600_130844250	130843406	TAATATAT others(48): Show TAATATATATAATTTATATATATATATTATATATTATATATACATTATAT ATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG02976.hp1 HG02717.hp2 HG02723.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0341 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0341 a0002c0002t0002g0345 a0002c0002t0002g0346	3	380	0.0079	-55	c.-43 others(66): Show c.-4362_-4308delTTATATATATAATGTATATATAATATATAATATA TATATATAAATTATATATATT		STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding					4157		chr12	TogoVar
SULT4A1_chr22_43819509_43867513	43834583	CCCCCACC others(48): Show CCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTT CCCGCG	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	386	0.0026	-55	c.509 others(70): Show c.509-904_509-850delCGCGGGAAGCACAGGGACGCGGTGGGGGCG CGGGAAGCACAGGGACGCGGTGGGG		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
SULT4A1_chr22_43819509_43867513	43834611	CCCCCACC others(48): Show CCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTT CCCGCG	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18979.hp1 NA18977.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0175 a0001c0001t0001g0162 a0001c0001t0001g0175	2	386	0.0052	-55	c.509 others(70): Show c.509-932_509-878delCGCGGGAAGCTCAGGGCCGCGGTGGGGGCG CGGGAAGCACAGGGACGCGGTGGGG		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
SVIL_chr10_29452338_29639971	29594280	GATCTGAA others(48): Show GATCTGAAACACTCCTAGGTCCCAACCATTTCGGATGAGAGATACTCAAC CTGTAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(143): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18955.hp1 NA18968.hp1 NA18969.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp2 NA19002.hp1 NA19009.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(37): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0029 a0031 a0032 a0036 a0037 a0038 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0051	a0001c0002 a0001c0004 a0001c0005 others(83): Show a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0016 a0001c0032 a0001c0034 a0001c0035 a0001c0039 a0001c0084 a0001c0090 a0001c0119 a0002c0001 a0002c0018 a0002c0043 a0002c0064 a0003c0007 a0003c0010 a0003c0013 a0003c0031 a0003c0074 a0003c0075 a0003c0079 a0003c0080 a0003c0086 a0003c0088 a0003c0089 a0003c0128 a0004c0006 a0004c0017 a0004c0028 a0004c0029 a0004c0056 a0004c0057 a0004c0067 a0004c0069 a0005c0003 a0005c0103 a0006c0015 a0006c0083 a0006c0100 a0006c0129 a0007c0011 a0007c0055 a0009c0037 a0009c0120 a0010c0048 a0010c0054 a0010c0063 a0011c0019 a0011c0047 a0012c0020 a0013c0041 a0013c0102 a0014c0122 a0015c0022 a0016c0025 a0016c0068 a0017c0030 a0017c0073 a0018c0042 a0019c0060 a0019c0095 a0021c0111 a0022c0038 a0023c0024 a0024c0070 a0025c0087 a0025c0104 a0026c0040 a0029c0051 a0031c0121 a0032c0082 a0036c0072 a0037c0125 a0038c0101 a0040c0061 a0041c0105 a0042c0085 a0043c0076 a0044c0127 a0045c0110 a0046c0132 a0047c0058 a0048c0116 a0051c0113	a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 others(88): Show a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0005t0001 a0001c0008t0003 a0001c0016t0001 a0001c0032t0002 a0001c0034t0003 a0001c0035t0001 a0001c0039t0002 a0001c0084t0001 a0001c0090t0001 a0001c0119t0010 a0002c0001t0002 a0002c0018t0002 a0002c0043t0001 a0002c0064t0002 a0003c0007t0001 a0003c0010t0001 a0003c0010t0004 a0003c0013t0002 a0003c0031t0003 a0003c0031t0004 a0003c0074t0008 a0003c0075t0003 a0003c0079t0002 a0003c0080t0002 a0003c0086t0012 a0003c0088t0001 a0003c0089t0001 a0003c0128t0001 a0004c0006t0001 a0004c0006t0003 a0004c0017t0001 a0004c0028t0001 a0004c0029t0003 a0004c0029t0009 a0004c0056t0001 a0004c0057t0006 a0004c0067t0003 a0004c0069t0011 a0005c0003t0002 a0005c0103t0002 a0006c0015t0002 a0006c0083t0002 a0006c0100t0002 a0006c0129t0002 a0007c0011t0002 a0007c0055t0001 a0009c0037t0002 a0009c0120t0002 a0010c0048t0001 a0010c0054t0004 a0010c0063t0004 a0011c0019t0002 a0011c0047t0002 a0012c0020t0005 a0013c0041t0003 a0013c0102t0003 a0014c0122t0002 a0015c0022t0002 a0016c0025t0005 a0016c0068t0005 a0017c0030t0004 a0017c0073t0001 a0018c0042t0001 a0019c0060t0001 a0019c0095t0001 a0021c0111t0001 a0022c0038t0001 a0023c0024t0002 a0024c0070t0003 a0025c0087t0002 a0025c0104t0002 a0026c0040t0001 a0029c0051t0001 a0031c0121t0003 a0032c0082t0002 a0036c0072t0003 a0037c0125t0002 a0038c0101t0003 a0040c0061t0001 a0041c0105t0002 a0042c0085t0002 a0043c0076t0001 a0044c0127t0001 a0045c0110t0005 a0046c0132t0001 a0047c0058t0004 a0048c0116t0002 a0051c0113t0001	a0001c0002t0001g0118 a0001c0002t0001g0262 a0001c0002t0003g0142 others(143): Show a0001c0002t0001g0118 a0001c0002t0001g0262 a0001c0002t0003g0142 a0001c0004t0001g0031 a0001c0004t0001g0033 a0001c0004t0001g0040 a0001c0004t0001g0094 a0001c0004t0001g0164 a0001c0004t0001g0174 a0001c0004t0001g0209 a0001c0004t0001g0215 a0001c0005t0001g0014 a0001c0005t0001g0099 a0001c0005t0001g0165 a0001c0008t0003g0016 a0001c0008t0003g0169 a0001c0008t0003g0186 a0001c0008t0003g0222 a0001c0008t0003g0223 a0001c0008t0003g0224 a0001c0008t0003g0225 a0001c0016t0001g0068 a0001c0016t0001g0069 a0001c0016t0001g0070 a0001c0016t0001g0071 a0001c0032t0002g0231 a0001c0032t0002g0261 a0001c0034t0003g0032 a0001c0034t0003g0138 a0001c0035t0001g0281 a0001c0039t0002g0005 a0001c0039t0002g0006 a0001c0084t0001g0136 a0001c0090t0001g0049 a0001c0119t0010g0023 a0002c0001t0002g0112 a0002c0001t0002g0122 a0002c0001t0002g0163 a0002c0001t0002g0282 a0002c0018t0002g0055 a0002c0018t0002g0056 a0002c0018t0002g0057 a0002c0043t0001g0141 a0002c0064t0002g0084 a0003c0007t0001g0276 a0003c0010t0001g0025 a0003c0010t0001g0103 a0003c0010t0001g0244 a0003c0010t0001g0253 a0003c0010t0004g0073 a0003c0013t0002g0185 a0003c0031t0003g0131 a0003c0031t0004g0259 a0003c0074t0008g0284 a0003c0075t0003g0283 a0003c0079t0002g0168 a0003c0080t0002g0205 a0003c0086t0012g0290 a0003c0088t0001g0194 a0003c0089t0001g0193 a0003c0128t0001g0280 a0004c0006t0001g0059 a0004c0006t0001g0100 a0004c0006t0001g0111 a0004c0006t0001g0248 a0004c0006t0003g0053 a0004c0017t0001g0086 a0004c0017t0001g0216 a0004c0028t0001g0061 a0004c0029t0003g0184 a0004c0029t0009g0158 a0004c0056t0001g0147 a0004c0057t0006g0001 a0004c0067t0003g0076 a0004c0069t0011g0289 a0005c0003t0002g0030 a0005c0003t0002g0034 a0005c0003t0002g0037 a0005c0003t0002g0038 a0005c0003t0002g0046 a0005c0003t0002g0085 a0005c0003t0002g0087 a0005c0003t0002g0134 a0005c0003t0002g0135 a0005c0003t0002g0175 a0005c0003t0002g0192 a0005c0103t0002g0162 a0006c0015t0002g0191 a0006c0083t0002g0113 a0006c0100t0002g0189 a0006c0129t0002g0195 a0007c0011t0002g0107 a0007c0011t0002g0240 a0007c0055t0001g0211 a0009c0037t0002g0228 a0009c0037t0002g0229 a0009c0120t0002g0210 a0010c0048t0001g0152 a0010c0054t0004g0012 a0010c0063t0004g0072 a0011c0019t0002g0022 a0011c0019t0002g0187 a0011c0019t0002g0220 a0011c0047t0002g0263 a0012c0020t0005g0017 a0012c0020t0005g0160 a0012c0020t0005g0230 a0013c0041t0003g0074 a0013c0041t0003g0179 a0013c0102t0003g0078 a0014c0122t0002g0277 a0015c0022t0002g0026 a0015c0022t0002g0027 a0016c0025t0005g0173 a0016c0025t0005g0212 a0016c0068t0005g0157 a0017c0030t0004g0003 a0017c0030t0004g0146 a0017c0073t0001g0004 a0018c0042t0001g0081 a0019c0060t0001g0208 a0019c0095t0001g0104 a0021c0111t0001g0018 a0022c0038t0001g0060 a0023c0024t0002g0065 a0024c0070t0003g0159 a0025c0087t0002g0124 a0025c0104t0002g0066 a0026c0040t0001g0129 a0026c0040t0001g0130 a0029c0051t0001g0039 a0031c0121t0003g0279 a0032c0082t0002g0269 a0036c0072t0003g0227 a0037c0125t0002g0139 a0038c0101t0003g0010 a0040c0061t0001g0278 a0041c0105t0002g0083 a0042c0085t0002g0161 a0043c0076t0001g0251 a0044c0127t0001g0079 a0045c0110t0005g0116 a0046c0132t0001g0123 a0047c0058t0004g0091 a0048c0116t0002g0075 a0051c0113t0001g0243	146	290	0.5035	-55	c.-20 others(76): Show c.-200-25023_-200-24969delATACAGGTTGAGTATCTCTCATCC GAAATGGTTGGGACCTAGGAGTGTTTCAGAT		SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding	1/37						chr10	TogoVar
SYMPK_chr19_45810410_45868147	45858795	ATGAGCCA others(48): Show ATGAGCCACCGCGCCCGGCCGACGACCATATTTCAAATTTTAACTTCCTC TCGATC	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0042 a0001c0002t0010g0042	1	392	0.0026	-55	c.-13 others(72): Show c.-13+4208_-13+4262delGATCGAGAGGAAGTTAAAATTTGAAATA TGGTCGTCGGCCGGGCGCGGTGGCTCA		SYMPK	ENSG00000125755.19	transcript	ENST00000245934.12	protein_coding	1/26						chr19	TogoVar
SYN2_chr3_11999388_12197032	12155017	CTCCTTTT others(48): Show CTCCTTTTCACCTTTCAGACGAGATCGGGCGCGTTCAGGGTGGTATGGCC GTAGAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(175): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00558.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0008 a0010	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0008c0008 a0010c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0002c0002t0001 a0002c0002t0014 a0002c0002t0015 a0002c0002t0016 a0003c0003t0001 a0003c0003t0007 a0003c0003t0009 a0005c0005t0002 a0005c0005t0013 a0006c0006t0001 a0008c0008t0001 a0010c0007t0002	a0001c0001t0001g0151 a0001c0001t0002g0046 a0001c0001t0002g0159 others(174): Show a0001c0001t0001g0151 a0001c0001t0002g0046 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0006g0172 a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0195 a0001c0001t0008g0163 a0001c0001t0008g0165 a0001c0001t0008g0173 a0001c0001t0011g0176 a0001c0001t0011g0177 a0002c0002t0001g0003 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0014g0075 a0002c0002t0015g0108 a0002c0002t0016g0120 a0003c0003t0001g0024 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0198 a0003c0003t0007g0199 a0003c0003t0007g0200 a0003c0003t0007g0201 a0003c0003t0007g0202 a0003c0003t0007g0203 a0003c0003t0009g0001 a0003c0003t0009g0045 a0005c0005t0002g0245 a0005c0005t0002g0247 a0005c0005t0002g0248 a0005c0005t0002g0249 a0005c0005t0002g0259 a0005c0005t0002g0260 a0005c0005t0013g0261 a0006c0006t0001g0025 a0006c0006t0001g0026 a0006c0006t0001g0027 a0008c0008t0001g0116 a0010c0007t0002g0250	178	264	0.6742	-55	c.774 others(72): Show c.774+3708_774+3762delGACGAGATCGGGCGCGTTCAGGGTGGTA TGGCCGTAGATTCCTTTTCACCTTTCA		SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT3_chr19_50616977_50644881	50619900	TTTATTAT others(48): Show TTTATTATTATTATTATTATTATTATTATTATTATTATACCTGGATAATT TTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02135.hp2 HG02258.hp1 others(4): Show HG00140.hp1 HG02135.hp2 HG02258.hp1 HG02896.hp1 HG03486.hp1 HG03654.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0005t0004 a0001c0005t0005 others(1): Show a0001c0001t0001 a0001c0005t0004 a0001c0005t0005 a0001c0010t0001	a0001c0001t0001g0013 a0001c0001t0001g0190 a0001c0001t0001g0193 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0217 a0001c0005t0004g0183 a0001c0005t0005g0230 a0001c0010t0001g0156	7	388	0.0180	-55	c.25 others(66): Show c.2530_*2584delTAATAAAATTATCCAGGTATAATAATAATAATAA TAATAATAATAATAATAATAA		SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding					2076		chr19	TogoVar
SYTL3_chr6_158645054_158769871	158769664	CCCAGCAG others(48): Show CCCAGCAGATCAGTTTACAGCTTCCAGTCATGACAATTATTACAAGGCAG GTGTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	292	0.0034	-55	c.50 others(66): Show c.5061_*5115delCCAGCAGATCAGTTTACAGCTTCCAGTCATGACA ATTATTACAAGGCAGGTGTCA		SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding					4794		chr6	TogoVar
TAAR1_chr6_132638312_132664182	132659631	GACCTGTA others(48): Show GACCTGTACCCAACAAATGAATATTTTTAAAAAATAGAATGTACTCAAAC CCAATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	436	0.0023	-55	c.-68 others(64): Show c.-683_-629delTATTGGGTTTGAGTACATTCTATTTTTTAAAAATAT TCATTTGTTGGGTACAGGT		TAAR1	ENSG00000146399.3	transcript	ENST00000275216.3	protein_coding					450		chr6	TogoVar
TAPT1_chr4_16155505_16231471	16228679	AAAAAAAA others(48): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAGAAGAGGAAGCAGC CGTGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01256.hp2 others(6): Show HG00099.hp2 HG00741.hp2 HG01256.hp2 HG03017.hp2 NA18961.hp1 NA18962.hp2 NA18977.hp2 NA18988.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0254 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0018g0286	9	382	0.0236	-55	c.-22 others(66): Show c.-2277_-2223delGGCACGGCTGCTTCCTCTTCTTCTTTTCTTTTTT TTTTTTTTTTTTTTTTTTTTT		TAPT1	ENSG00000169762.17	transcript	ENST00000405303.7	protein_coding					2209		chr4	TogoVar
TAS2R46_chr12_11056365_11067294	11059661	ACAGTTGC others(48): Show ACAGTTGCATCAAGACTATATTATTGTCATATTTCCCCTAAAATTGTGGA ATAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	295	0.0034	-55	c.16 others(66): Show c.1649_*1703delGGCTATTCCACAATTTTAGGGGAAATATGACAAT AATATAGTCTTGATGCAACTG		TAS2R46	ENSG00000226761.3	transcript	ENST00000533467.1	protein_coding					1703		chr12	TogoVar
TAX1BP3_chr17_3657895_3673578	3659467	ACATGAAG others(48): Show ACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAG AAGAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	408	0.0025	-55	c.42 others(66): Show c.4226_*4280delATTCTTCTTCTCACCTCCAGGCAAGGCTGTCCCC AAACTCAGCCTGGACTTCATG		TAX1BP3	ENSG00000213977.8	transcript	ENST00000225525.4	protein_coding					3427		chr17	TogoVar
TCP10L_chr21_32568721_32590523	32590215	GGGTGAGT others(48): Show GGGTGAGTGAGTGAGACAATGTCTGAAAAAGAAGGAAAAAGAAATAAAGA AAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0004 a0005c0012t0004	a0005c0012t0004g0083 a0005c0012t0004g0083	1	396	0.0025	-55	c.-48 others(66): Show c.-4851_-4797delTTTCTTTCTTTATTTCTTTTTCCTTCTTTTTCAG ACATTGTCTCACTCACTCACC		TCP10L	ENSG00000242220.9	transcript	ENST00000300258.8	protein_coding					4693		chr21	TogoVar
TEX11_chrX_70523940_70913711	70897140	ATATATAT others(48): Show ATATATATTATATATAACATATATATTTTTATATATATGTTATATATAAT ATATGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00733.hp2 others(32): Show HG00099.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01192.hp1 HG01346.hp1 HG02074.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03486.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG06807.hp2 NA19030.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 others(32): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0011t0001g0154	35	229	0.1528	-55	c.37+ others(72): Show c.37+10558_37+10612delACATATATTATATATAACATATATATAA AAATATATATGTTATATATAATATATA		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	2/29						chrX	TogoVar
THOP1_chr19_2780503_2820807	2805931	GGGGGGAC others(48): Show GGGGGGACGGGCGGGTGCCCATCACTGCGGGGGGATGGGCGGGTGCCCAT CACTGC	G G	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	370	0.0027	-55	c.750 others(70): Show c.750+761_750+815delACGGGCGGGTGCCCATCACTGCGGGGGGAT GGGCGGGTGCCCATCACTGCGGGGG		THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
THSD4_chr15_71110471_71788383	71564664	AGTATATT others(48): Show AGTATATTATAACATATAATACAATATATAGTATAACATATAATACAATA TATATT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA20129.hp2 HG02257.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0008 a0001c0002t0002 a0001c0004t0008	a0001c0002t0002g0043 a0001c0004t0008g0051 a0001c0002t0002g0043 a0001c0004t0008g0051	2	116	0.0172	-55	c.115 others(76): Show c.1153-95781_1153-95727delGTATAACATATAATACAATATATA TTGTATATTATAACATATAATACAATATATA		THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr15	TogoVar
TIAM1_chr21_31113418_31349261	31210699	AAGAAAGA others(48): Show AAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAGGAAGGAAGGG AGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0017 a0003c0008t0017	a0003c0008t0017g0137 a0003c0008t0017g0137	1	212	0.0047	-55	c.221 others(72): Show c.2218-539_2218-485delCTTTCTCCCTTCCTTCCTTCTTTCTCTT TCTTTCTTTCTCTTTCTTTCTCTTTCT		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	10/27						chr21	TogoVar
TIMP4_chr3_12148068_12163912	12155017	CTCCTTTT others(48): Show CTCCTTTTCACCTTTCAGACGAGATCGGGCGCGTTCAGGGTGGTATGGCC GTAGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(313): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0004t0001 a0002c0002t0001 a0003c0003t0002 a0004c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0036 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0053 a0001c0001t0005g0032 a0001c0001t0007g0056 a0001c0004t0001g0042 a0002c0002t0001g0027 a0003c0003t0002g0033 a0004c0005t0002g0046	316	414	0.7633	-55	c.353 others(70): Show c.353-621_353-567delATCTACGGCCATACCACCCTGAACGCGCCC GATCTCGTCTGAAAGGTGAAAAGGA		TIMP4	ENSG00000157150.5	transcript	ENST00000287814.5	protein_coding	3/4						chr3	TogoVar
TLR1_chr4_38791255_38809791	38800566	TTGGGATG others(48): Show TTGGGATGAACTCTAGAGTGTGCAGTCCTCACCTCCAGAGACCCTTTCAG CCGTGA	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0005 a0023c0031t0005	a0023c0031t0005g0056 a0023c0031t0005g0056	1	446	0.0022	-55	c.-68 others(70): Show c.-68+236_-68+290delTCACGGCTGAAAGGGTCTCTGGAGGTGAGG ACTGCACACTCTAGAGTTCATCCCA		TLR1	ENSG00000174125.8	transcript	ENST00000308979.7	protein_coding	3/3						chr4	TogoVar
TMC5_chr16_19412883_19504113	19489000	ACCCTTGC others(48): Show ACCCTTGCTCCTCTTGGCATATCCACTCTCTTCTCTCTCTTCCTTGCTCC ACAACG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01891.hp1 others(6): Show HG01109.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG02486.hp1 HG02922.hp1 HG03041.hp1 HG03453.hp2 NA20129.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0014 a0001c0001 a0011c0014	a0001c0001t0009 a0011c0014t0009 a0001c0001t0009 a0011c0014t0009	a0001c0001t0009g0095 a0001c0001t0009g0101 a0001c0001t0009g0102 others(6): Show a0001c0001t0009g0095 a0001c0001t0009g0101 a0001c0001t0009g0102 a0001c0001t0009g0103 a0001c0001t0009g0106 a0001c0001t0009g0108 a0001c0001t0009g0109 a0001c0001t0009g0124 a0011c0014t0009g0052	9	336	0.0268	-55	c.257 others(74): Show c.2574-1351_2574-1297delTGCTCCACAACGCCCTTGCTCCTCTT GGCATATCCACTCTCTTCTCTCTCTTCCT		TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
TMEM120A_chr7_75981831_75999595	75988922	CGGGTGGG others(48): Show CGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGC CGGGTG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0194 a0001c0004t0001g0194	1	368	0.0027	-55	c.377 others(70): Show c.377+188_377+242delCACCCGGCCTTCCCCTCCACCCCCCCACCC GGCCTTCCCCTCCACACACCCACCC		TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11						chr7	TogoVar

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