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	cds cds pos length	aa aa pos length	distance	status	chr	external
PXDNL_chr8_51314577_51814445	51600181	TATATAAA others(67): Show TATATAAATTATATCGTTTAGATAATAAATTATATCTCATATAAATTATA TCGTTTAGATAATAAATTATATCTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02717.hp2 HG02922.hp2 others(5): Show HG01070.hp2 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03486.hp2 NA19030.hp2 NA20129.hp2	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0024 a0026	a0001c0001 a0003c0005 a0009c0012 others(2): Show a0001c0001 a0003c0005 a0009c0012 a0024c0026 a0026c0043	a0001c0001t0002 a0001c0001t0003 a0003c0005t0001 others(4): Show a0001c0001t0002 a0001c0001t0003 a0003c0005t0001 a0003c0005t0003 a0009c0012t0001 a0024c0026t0003 a0026c0043t0003	a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0005t0001g0041 others(5): Show a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0005t0001g0041 a0003c0005t0003g0003 a0003c0005t0003g0006 a0009c0012t0001g0038 a0024c0026t0003g0002 a0026c0043t0003g0005	8	122	0.0656	-74	c.237 others(91): Show c.237-7557_237-7484delGAGATATAATTTATTATCTAAACGATAT AATTTATATGAGATATAATTTATTATCTAAACGATATAATTTATAT		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22					chr8	TogoVar
PXDN_chr2_1626887_1749515	1637526	GGGAGGAA others(67): Show GGGAGGAAGACCTGCTGCACGCTGTCCACTCTGACAGCTGCCAGGCGATG TACACCTAGTCTCTAGGCTGCAGAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0028 a0001c0032t0028	a0001c0032t0028g0046 a0001c0032t0028g0046	1	322	0.0031	-74	c.420 others(93): Show c.4206+1246_4206+1319delTTCTGCAGCCTAGAGACTAGGTGTAC ATCGCCTGGCAGCTGTCAGAGTGGACAGCGTGCAGCAGGTCTTCCTCC		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	21/22					chr2	TogoVar
RAB2A_chr8_60511987_60628644	60548282	CGGACGGG others(67): Show CGGACGGGGCGGCTGGCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGG CGGCCGGGCAGAGGCGCCCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp1 HG01070.hp2 others(33): Show HG00673.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01358.hp1 HG01884.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18984.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024	a0001c0001t0002g0130 a0001c0001t0005g0280 a0001c0001t0005g0281 others(33): Show a0001c0001t0002g0130 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0290 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0012g0291 a0001c0001t0012g0292 a0001c0001t0013g0101 a0001c0001t0013g0102 a0001c0001t0016g0289 a0001c0001t0019g0311 a0001c0001t0024g0099	36	358	0.1006	-74	c.47- others(91): Show c.47-10569_47-10496delGGACGGGGCGGCTGGCCGGGCAGAGTGG CTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACT		RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7					chr8	TogoVar
RAB2A_chr8_60511987_60628644	60548409	CGGACGGG others(67): Show CGGACGGGGCGGCTGGCCGGGCAGAGTGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01109.hp1 others(14): Show HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01884.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02896.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03471.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0019 a0001c0001t0005 a0001c0001t0012 a0001c0001t0019	a0001c0001t0005g0281 a0001c0001t0005g0283 a0001c0001t0005g0284 others(14): Show a0001c0001t0005g0281 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0309 a0001c0001t0012g0291 a0001c0001t0012g0292 a0001c0001t0019g0311	17	358	0.0475	-74	c.47- others(91): Show c.47-10442_47-10369delGGACGGGGCGGCTGGCCGGGCAGAGTGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACT		RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7					chr8	TogoVar
RAB5A_chr3_19942097_19990175	19945363	GAATGGAC others(67): Show GAATGGACAGAAAGAACAGCAGTATGCATTAATTTCAGTTTATATAAACA CTACCATGGACCAGGTGTTGGGATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	348	0.0029	-74	c.-22 others(85): Show c.-2251_-2178delAATGGACAGAAAGAACAGCAGTATGCATTAATTT CAGTTTATATAAACACTACCATGGACCAGGTGTTGGGATT		RAB5A	ENSG00000144566.11	transcript	ENST00000273047.9	protein_coding				1733		chr3	TogoVar
RADIL_chr7_4792055_4888716	4802853	CCCCTCCC others(67): Show CCCCTCCCCGGGCACCTCGGGGCACTCTGGCTGGGGGGCCCCCTCCCCGG GCACCTCGGGGAATGCTGGCTGGGT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0057 a0005c0003t0057	a0005c0003t0057g0240 a0005c0003t0057g0240	1	292	0.0034	-74	c.249 others(91): Show c.2499+619_2499+692delACCCAGCCAGCATTCCCCGAGGTGCCCG GGGAGGGGGCCCCCCAGCCAGAGTGCCCCGAGGTGCCCGGGGAGGG		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14					chr7	TogoVar
RADIL_chr7_4792055_4888716	4802891	CCCCCTCC others(67): Show CCCCCTCCCCGGGCACCTCGGGGAATGCTGGCTGGGTCCCCTCCCCGGGC ACCTCGGGGCACGCTGGCTGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02738.hp2 HG01978.hp2 HG02738.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0002 a0005c0003t0002	a0005c0003t0002g0038 a0005c0003t0002g0067 a0005c0003t0002g0038 a0005c0003t0002g0067	2	292	0.0069	-74	c.249 others(91): Show c.2499+581_2499+654delCCCCCCAGCCAGCGTGCCCCGAGGTGCC CGGGGAGGGGACCCAGCCAGCATTCCCCGAGGTGCCCGGGGAGGGG		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14					chr7	TogoVar
RASA3_chr13_113972783_114137623	114005888	CCCCCTCC others(67): Show CCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCC CTGCTGGATGCCACCTTACCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02738.hp1 HG01943.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0059 a0001c0005t0001g0016 a0001c0001t0001g0059 a0001c0005t0001g0016	2	67	0.0299	-74	c.174 others(93): Show c.1742+1571_1742+1644delAGAAGGGTAAGGTGGCATCCAGCAGG GCAGGAGTGGGGAGAAGGGTAAGGTGGCGTCCGGCAGGGCAGGAGGGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23					chr13	TogoVar
RASA3_chr13_113972783_114137623	114006797	ACCACCTT others(67): Show ACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTT CTCCCCACTCCTGCCCTGCCGGATG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	67	0.0149	-74	c.174 others(91): Show c.1742+662_1742+735delCATCCGGCAGGGCAGGAGTGGGGAGAAG GGTAAGGTGGCGTCCGGCAGGGCAGGAGGGGAGAAGGGTAAGGTGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23					chr13	TogoVar
RASA3_chr13_113972783_114137623	114007093	GCCACCTT others(67): Show GCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTT CTCCCCACTCCTGCCCTGCCGGACA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp1 HG01981.hp2 others(7): Show HG00733.hp1 HG01175.hp1 HG01981.hp2 HG02148.hp1 HG02148.hp2 HG03490.hp1 HG04115.hp2 NA18945.hp1 NA18971.hp2 NA18973.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0010 a0003c0008 a0001c0002 a0001c0010 a0003c0008	a0001c0002t0002 a0001c0010t0002 a0003c0008t0002 a0001c0002t0002 a0001c0010t0002 a0003c0008t0002	a0001c0002t0002g0004 a0001c0002t0002g0031 a0001c0002t0002g0036 others(7): Show a0001c0002t0002g0004 a0001c0002t0002g0031 a0001c0002t0002g0036 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0010t0002g0052 a0003c0008t0002g0006	10	67	0.1493	-74	c.174 others(91): Show c.1742+366_1742+439delTGTCCGGCAGGGCAGGAGTGGGGAGAAG GGTAAGGTGGTGTCCAGCAGGGCAGGAGGGGAGAAGGGTAAGGTGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23					chr13	TogoVar
RASA3_chr13_113972783_114137623	114126457	CCCCTCCC others(67): Show CCCCTCCCAGACCCCCTCCAAGATGACAGCCAAAACCAAAGCCACCTCTC TCTTCAGGAGCAAGTTGAAAGCCAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0029 a0002c0004t0004g0029	1	67	0.0149	-74	c.55+ others(89): Show c.55+5904_55+5977delATGGCTTTCAACTTGCTCCTGAAGAGAGAG GTGGCTTTGGTTTTGGCTGTCATCTTGGAGGGGGTCTGGGAGGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23					chr13	TogoVar
RBBP9_chr20_18481540_18502225	18501713	CCCACCCT others(67): Show CCCACCCTCCACTGAGGCCCTCCTTCTAAAGGGATCACCCACCCTCCACT GAGGCCCTCCTTCTAAAGGGATCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0107 a0001c0001t0050g0107	1	454	0.0022	-74	c.-46 others(85): Show c.-4620_-4547delAAGATCCCTTTAGAAGGAGGGCCTCAGTGGAGGG TGGGTGATCCCTTTAGAAGGAGGGCCTCAGTGGAGGGTGG		RBBP9	ENSG00000089050.16	transcript	ENST00000337227.9	protein_coding				4489		chr20	TogoVar
RBFOX3_chr17_79084345_79616051	79554408	CTCACTCA others(67): Show CTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTC ACCCCTCACCTGGCCCTCTCCATCT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	154	0.0065	-74	c.-32 others(95): Show c.-320+56344_-320+56417delAGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14					chr17	TogoVar
RDH13_chr19_55039316_55068148	55063609	TGAGGGAG others(67): Show TGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCCAAGGGAGGAGGG GCTGGGAGCATGGACTTCTGGGTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0111 a0001c0004t0007g0111	1	377	0.0027	-74	c.-65 others(83): Show c.-651_-578delGGACCCAGAAGTCCATGCTCCCAGCCCCTCCTCCCT TGGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTC		RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding				462		chr19	TogoVar
RHNO1_chr12_2872223_2894524	2874239	GTTGGGGA others(67): Show GTTGGGGATGGCCACTACTTGCGTGTTGGGCATGGTGGGGTGGTTAATAA TCTTGATCCCAGCTGGAAACTTGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	426	0.0024	-74	c.-31 others(85): Show c.-3127_-3054delTTGGGGATGGCCACTACTTGCGTGTTGGGCATGG TGGGGTGGTTAATAATCTTGATCCCAGCTGGAAACTTGCA		RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding				2983		chr12	TogoVar
RHOT1_chr17_32137502_32230727	32178999	GTCTGGGA others(67): Show GTCTGGGAAGTGAGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAATGG GAAGCGCCTCTGCCTGGCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	284	0.0035	-74	c.329 others(91): Show c.329+2798_329+2871delAGGAGCGCCTCTGCCTGGCCGCCCCGTC TGGGAAATGGGAAGCGCCTCTGCCTGGCCGCCCCATCTGGGAAGTG		RHOT1	ENSG00000126858.19	transcript	ENST00000545287.7	protein_coding	6/19				INFO_REALIGN_3_PRIME	chr17	TogoVar
RIMBP2_chr12_130391133_130721299	130657643	AGAGGATG others(67): Show AGAGGATGGAGCCCCAGCTGCGGGGGGCAGTGAGGGCGGAGGATGGAGCC CCAGCTGCGGGGGGCAGTGAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00642.hp1 others(28): Show HG00280.hp1 HG00544.hp2 HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02683.hp2 HG02735.hp1 HG02886.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp2 NA18950.hp1 NA18964.hp1 NA18986.hp2 NA19007.hp1 NA19064.hp2 NA19084.hp2 NA20752.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0011 a0014	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0019 a0002c0009 a0008c0015 a0011c0050 a0014c0045	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0005t0009 a0001c0006t0001 a0001c0008t0001 a0001c0019t0001 a0002c0009t0001 a0008c0015t0001 a0011c0050t0001 a0014c0045t0001	a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 others(28): Show a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0145 a0001c0001t0002g0037 a0001c0001t0002g0091 a0001c0001t0002g0126 a0001c0002t0001g0021 a0001c0002t0001g0054 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0002g0017 a0001c0003t0001g0086 a0001c0004t0001g0001 a0001c0004t0001g0004 a0001c0004t0001g0041 a0001c0004t0001g0112 a0001c0004t0002g0003 a0001c0005t0009g0157 a0001c0006t0001g0039 a0001c0006t0001g0081 a0001c0008t0001g0134 a0001c0008t0001g0143 a0001c0008t0001g0153 a0001c0019t0001g0023 a0002c0009t0001g0100 a0008c0015t0001g0133 a0011c0050t0001g0104 a0014c0045t0001g0035	31	180	0.1722	-74	c.-35 others(95): Show c.-351-29261_-351-29188delCGCCCTCACTGCCCCCCGCAGCTG GGGCTCCATCCTCCGCCCTCACTGCCCCCCGCAGCTGGGGCTCCATCCTC		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22					chr12	TogoVar
RIMS2_chr8_103495610_104259430	103933277	ATCGAGAC others(67): Show ATCGAGACTCTGACACACACACACACACACACACACACACACACACACAC ACACACACAATTAGCCAGGAGTGGT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp1 HG02055.hp2 others(11): Show HG00741.hp2 HG02055.hp1 HG02055.hp2 HG02615.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03579.hp1 NA18522.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0014 others(1): Show a0001c0001 a0001c0003 a0001c0014 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0014t0001 a0002c0002t0005 a0002c0002t0006	a0001c0001t0003g0047 a0001c0001t0003g0071 a0001c0001t0003g0139 others(11): Show a0001c0001t0003g0047 a0001c0001t0003g0071 a0001c0001t0003g0139 a0001c0001t0004g0140 a0001c0003t0001g0143 a0001c0003t0005g0072 a0001c0003t0005g0073 a0001c0003t0005g0141 a0001c0003t0005g0142 a0001c0003t0008g0070 a0001c0014t0001g0097 a0002c0002t0005g0048 a0002c0002t0006g0045 a0002c0002t0006g0046	14	172	0.0814	-74	c.260 others(93): Show c.2600+1885_2600+1958delTCGAGACTCTGACACACACACACACA CACACACACACACACACACACACACACACACAATTAGCCAGGAGTGGT		RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	14/29					chr8	TogoVar
RIN3_chr14_92508781_92693994	92640158	CTGCCTGT others(67): Show CTGCCTGTGTGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCT GCCTGACTGTGCGTTTGCTGGGAGA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0263 a0006c0005t0001g0263	1	334	0.0030	-74	c.441 others(91): Show c.441-1073_441-1000delTGTGTTTGCTGGGAGATGCCTGACTGTG TGTTCATCGGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTG		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9				INFO_REALIGN_3_PRIME	chr14	TogoVar
RPH3AL_chr17_207389_357807	233932	TGAGCAGG others(67): Show TGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCG GCTACTTACCCTGACCAACTTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0131 a0001c0001t0010g0131	1	133	0.0075	-74	c.613 others(93): Show c.613+13105_613+13178delGGGGAAGTTGGTCAGGGTAAGTAGCC GCTCCCTGCTCGGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9					chr17	TogoVar
RPH3AL_chr17_207389_357807	234080	CGAGCAGG others(67): Show CGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCG GCTACTTACCCTGACCAACTTCCCT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0059 a0001c0003t0002g0059	1	133	0.0075	-74	c.613 others(93): Show c.613+12957_613+13030delAGGGAAGTTGGTCAGGGTAAGTAGCC GCTCCCTGCTCAGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9					chr17	TogoVar
RPH3AL_chr17_207389_357807	250223	CGCTGCGG others(67): Show CGCTGCGGGACCTCTCAGAGCCTTTACCAAGCTCCGTCGCTGCGGGACCT CTCAGAGCCTTTACCAAGCTCCGTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(42): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG01070.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01978.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02135.hp2 HG02572.hp2 HG02622.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG03017.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG04184.hp1 NA18522.hp2 NA18940.hp1 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18963.hp2 NA18993.hp1 NA18999.hp1 NA19005.hp1 NA19043.hp1 NA19056.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0005c0010 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0003t0001 a0001c0003t0018 a0001c0003t0036 a0001c0004t0001 a0005c0010t0003 a0008c0013t0003	a0001c0001t0001g0047 a0001c0001t0001g0086 a0001c0001t0001g0089 others(42): Show a0001c0001t0001g0047 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0002g0028 a0001c0001t0002g0049 a0001c0001t0002g0069 a0001c0001t0003g0084 a0001c0001t0003g0101 a0001c0001t0004g0087 a0001c0001t0004g0092 a0001c0001t0005g0132 a0001c0001t0006g0072 a0001c0001t0006g0120 a0001c0001t0007g0097 a0001c0001t0008g0113 a0001c0001t0009g0066 a0001c0001t0010g0015 a0001c0001t0010g0131 a0001c0001t0013g0108 a0001c0001t0015g0036 a0001c0001t0016g0082 a0001c0001t0016g0093 a0001c0001t0017g0099 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0022g0071 a0001c0001t0024g0083 a0001c0001t0025g0076 a0001c0001t0033g0063 a0001c0001t0035g0074 a0001c0002t0001g0057 a0001c0002t0006g0060 a0001c0002t0007g0112 a0001c0002t0009g0126 a0001c0003t0001g0075 a0001c0003t0018g0019 a0001c0003t0036g0064 a0001c0004t0001g0046 a0001c0004t0001g0062 a0005c0010t0003g0085 a0008c0013t0003g0037	45	133	0.3384	-74	c.439 others(91): Show c.439-3012_439-2939delAACGGAGCTTGGTAAAGGCTCTGAGAGG TCCCGCAGCGACGGAGCTTGGTAAAGGCTCTGAGAGGTCCCGCAGC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9					chr17	TogoVar
RPTOR_chr17_80539838_80971368	80746188	AGGTGATC others(67): Show AGGTGATCCCCACCGCCCCCACAGCGGTGCTTTCTGCGGGTGATCCCCAC CGCCCCCACAGCGGTGCTTTCTGCG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03209.hp2 HG03540.hp2 HG01099.hp2 HG03209.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0001c0055 a0002c0062 a0001c0012 a0001c0055 a0002c0062	a0001c0012t0018 a0001c0055t0049 a0002c0062t0018 a0001c0012t0018 a0001c0055t0049 a0002c0062t0018	a0001c0012t0018g0194 a0001c0055t0049g0083 a0002c0062t0018g0191 a0001c0012t0018g0194 a0001c0055t0049g0083 a0002c0062t0018g0191	3	196	0.0153	-74	c.655 others(91): Show c.655-7711_655-7638delGGGTGATCCCCACCGCCCCCACAGCGGT GCTTTCTGCGGGTGATCCCCACCGCCCCCACAGCGGTGCTTTCTGC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33				INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477010	GATGCCCC others(67): Show GATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTG CCCCCTCCACCCCACAGCCCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03654.hp1 NA18522.hp2 others(3): Show HG01175.hp2 HG03654.hp1 NA18522.hp2 NA18945.hp2 NA18953.hp2 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0008 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0002 a0002c0003t0001	a0001c0001t0002g0353 a0001c0001t0008g0358 a0001c0002t0002g0106 others(3): Show a0001c0001t0002g0353 a0001c0001t0008g0358 a0001c0002t0002g0106 a0002c0003t0001g0330 a0002c0003t0001g0347 a0002c0003t0001g0356	6	408	0.0147	-74	c.727 others(89): Show c.727+207_727+280delTCCCCGGGCTGTGGGGTGGAGGGGGCAGAG GGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCAT		RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8					chr21	TogoVar
S100Z_chr5_76845014_76926650	76885538	CGGGGTGG others(67): Show CGGGGTGGGAGGTGCTTGCCCCCCAGGAAAGTAGGAACGGGTTGGGAGGT GCTTGTCCCCCAGGAAAGTGGGAAT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0118 a0002c0002t0002g0118	1	348	0.0029	-74	c.2+ others(89): Show c.2+7736_*2+7809delAGGAACGGGTTGGGAGGTGCTTGTCCCCCA GGAAAGTGGGAATGGGGTGGGAGGTGCTTGCCCCCCAGGAAAGT		S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4				INFO_REALIGN_3_PRIME	chr5	TogoVar
SBK2_chr19_55523611_55542133	55530684	TGTGAGGC others(67): Show TGTGAGGCCTGTGGGTTTAGTGGGGCCTAGTGTGACCTGTGAGGCCTGTG GGTTTAGTGTGGCTTAGTGTGACCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG03225.hp1 HG01891.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0002g0088 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0002g0088	3	434	0.0069	-74	c.456 others(89): Show c.456+385_457-362delGGGTCACACTAAGCCACACTAAACCCACAG GCCTCACAGGTCACACTAGGCCCCACTAAACCCACAGGCCTCAC		SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	3/3					chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148626	CCCTCCTT others(67): Show CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG02572.hp1 others(3): Show HG01243.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02809.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0018 others(3): Show a0001c0001 a0001c0006 a0001c0018 a0001c0032 a0001c0035 a0001c0038	a0001c0001t0001 a0001c0006t0001 a0001c0018t0001 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0018t0001 a0001c0032t0001 a0001c0035t0001 a0001c0038t0001	a0001c0001t0001g0155 a0001c0006t0001g0157 a0001c0018t0001g0154 others(3): Show a0001c0001t0001g0155 a0001c0006t0001g0157 a0001c0018t0001g0154 a0001c0032t0001g0156 a0001c0035t0001g0158 a0001c0038t0001g0153	6	203	0.0296	-74	c.167 others(89): Show c.167+669_167+742delATGGGAAGGGGCGGGAGGTTTTCTGGGGTG AAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGG		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31					chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148700	TCCTCCTT others(67): Show TCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG01168.hp1 others(18): Show HG00323.hp1 HG00423.hp1 HG01168.hp1 HG01515.hp1 HG01891.hp1 HG01993.hp2 HG02071.hp2 HG02155.hp1 HG03017.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG04115.hp1 HG06807.hp2 NA18983.hp2 NA19005.hp2 NA19057.hp2 NA19088.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0001c0024 a0001c0041 a0002c0008	a0001c0001t0003 a0001c0002t0001 a0001c0002t0012 others(5): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0012 a0001c0005t0001 a0001c0013t0001 a0001c0024t0001 a0001c0041t0010 a0002c0008t0001	a0001c0001t0003g0175 a0001c0002t0001g0008 a0001c0002t0001g0040 others(18): Show a0001c0001t0003g0175 a0001c0002t0001g0008 a0001c0002t0001g0040 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0109 a0001c0002t0001g0121 a0001c0002t0001g0140 a0001c0002t0001g0167 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0012g0186 a0001c0005t0001g0117 a0001c0013t0001g0080 a0001c0013t0001g0087 a0001c0024t0001g0179 a0001c0041t0010g0082 a0002c0008t0001g0189	21	203	0.1035	-74	c.167 others(89): Show c.167+595_167+668delGTGGGAAGGGGCGGGAGGTTTTCTGGGGTG AAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGG		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31					chr19	TogoVar
SCFD2_chr4_52867982_53371061	53190803	AAATATGA others(67): Show AAATATGAAGATTTTCCAATCAAATAAACTACAGAAGGTTATGTCTGTGA ACTCCTTCAGAAGTTAAAACTAGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02647.hp1 others(6): Show HG02109.hp1 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0003t0013	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(6): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0003t0003g0074 a0001c0003t0013g0073	9	162	0.0556	-74	c.131 others(95): Show c.1312-45295_1312-45222delCTCTAGTTTTAACTTCTGAAGGAG TTCACAGACATAACCTTCTGTAGTTTATTTGATTGGAAAATCTTCATATT		SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8					chr4	TogoVar
SCGB1C2_chr17_132569_144067	136342	AACCCTAA others(67): Show AACCCTAACCCTAACCCTAACCCTAACCCCTAACCCCTAACCCTAACCCT AACCCTAACCCTAACCCTAACCCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02647.hp1 HG02647.hp2 others(4): Show HG02055.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0016	7	402	0.0174	-74	c.-12 others(85): Show c.-1248_-1175delACCCTAACCCTAACCCTAACCCTAACCCCTAACC CCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCCT		SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding				1226		chr17	TogoVar
SCN9A_chr2_166190185_166380944	166191660	TATATATA others(67): Show TATATATATATATATATATATACACACACATATATATATATGTATATATA TATATATACACACATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0022 a0001c0005t0012g0022	1	296	0.0034	-74	c.69 others(85): Show c.6938_*7011delGTATATATATATGTGTGTATATATATATATATAC ATATATATATATGTGTGTGTATATATATATATATATATAT		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding				3524		chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1283904	AGGTGTGG others(67): Show AGGTGTGGCTGCCCTGGCTGGGTCCTCCCTCGCCTGCAGCACAGTCCCAC GCCCAGCCAGCCTGTTTTAAATAGG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03491.hp1 HG03491.hp1	a0029 a0029	a0029c0025 a0029c0025	a0029c0025t0001 a0029c0025t0001	a0029c0025t0001g0256 a0029c0025t0001g0256	1	290	0.0035	-74	c.352 others(84): Show c.352-73_352delGGTGTGGCTGCCCTGGCTGGGTCCTCCCTCGCCTG CAGCACAGTCCCACGCCCAGCCAGCCTGTTTTAAATAGG	p.Glu others(5): Show p.Glu118fs	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/18	352/2409	118/802			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288206	TGTCTCTG others(67): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0126 a0004c0005t0006g0126	1	290	0.0035	-74	c.166 others(91): Show c.1662+192_1662+265delCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288273	TCCCCCGA others(67): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCCCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19079.hp1 NA19002.hp1 NA19079.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0013 a0002c0002 a0009c0013	a0002c0002t0001 a0009c0013t0001 a0002c0002t0001 a0009c0013t0001	a0002c0002t0001g0011 a0009c0013t0001g0078 a0002c0002t0001g0011 a0009c0013t0001g0078	2	290	0.0069	-74	c.166 others(91): Show c.1662+240_1662+313delCCGAGTCTCTGCTCCGTCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288732	CTCCGTCC others(67): Show CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCCCTGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0266 a0008c0007t0004g0266	1	290	0.0035	-74	c.166 others(91): Show c.1662+704_1662+777delGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288862	CTCCGTCC others(67): Show CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCCCTGT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	290	0.0035	-74	c.166 others(91): Show c.1662+834_1662+907delGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289055	CCGTGTCT others(67): Show CCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0002 a0002c0003t0005g0002	1	290	0.0035	-74	c.166 others(93): Show c.1662+1020_1662+1093delGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289207	CCGTGTCT others(67): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	290	0.0035	-74	c.166 others(92): Show c.1663-1062_1663-989delGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289460	TCTGCCCC others(67): Show TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	290	0.0035	-74	c.166 others(91): Show c.1663-806_1663-733delCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290099	TCTGCTCC others(67): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	290	0.0035	-74	c.166 others(90): Show c.1663-154_1663-81delTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290117	TCTGCTCC others(67): Show TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA20752.hp1 NA19088.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0196 a0002c0002t0001g0076 a0001c0001t0001g0196 a0002c0002t0001g0076	2	290	0.0069	-74	c.166 others(90): Show c.1663-141_1663-68delCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444852	TACACATA others(67): Show TACACATATATTCGTACGAATATATATACACATATATTCGTACGAATATA TATACATATATTCGTACGAATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00609.hp1 others(40): Show HG00099.hp2 HG00408.hp1 HG00609.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01361.hp2 HG01433.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02257.hp2 HG02602.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp2 HG03486.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18941.hp2 NA18967.hp1 NA18974.hp1 NA18982.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19066.hp2 NA19085.hp1 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0005c0007 others(1): Show a0001c0001 a0001c0002 a0005c0007 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0004 a0005c0007t0003 a0005c0007t0008 a0006c0015t0002	a0001c0001t0001g0143 a0001c0001t0002g0099 a0001c0001t0002g0100 others(40): Show a0001c0001t0001g0143 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0225 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0248 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0282 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0003g0017 a0001c0001t0003g0022 a0001c0001t0003g0041 a0001c0001t0003g0050 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0004g0094 a0001c0001t0006g0288 a0001c0002t0004g0093 a0005c0007t0003g0063 a0005c0007t0008g0095 a0006c0015t0002g0134	43	290	0.1483	-74	c.114 others(93): Show c.1140+1833_1140+1906delGTATATTCGTACGAATATATGTATAT ATATTCGTACGAATATATGTGTATATATATTCGTACGAATATATGTGT		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12					chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43281459	TCAGCCAC others(67): Show TCAGCCACCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCC TCCTCAGCCACCCTCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp1 HG02080.hp2 others(4): Show HG00408.hp1 HG01109.hp1 HG02080.hp2 HG04184.hp2 NA18747.hp1 NA18994.hp1 NA19043.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0013 a0001c0038 a0003c0001 others(3): Show a0001c0013 a0001c0038 a0003c0001 a0003c0007 a0004c0028 a0006c0015	a0001c0013t0004 a0001c0013t0036 a0001c0038t0065 others(4): Show a0001c0013t0004 a0001c0013t0036 a0001c0038t0065 a0003c0001t0023 a0003c0007t0001 a0004c0028t0009 a0006c0015t0007	a0001c0013t0004g0083 a0001c0013t0036g0098 a0001c0038t0065g0129 others(4): Show a0001c0013t0004g0083 a0001c0013t0036g0098 a0001c0038t0065g0129 a0003c0001t0023g0109 a0003c0007t0001g0105 a0004c0028t0009g0044 a0006c0015t0007g0183	7	280	0.0250	-74	c.484 others(91): Show c.484+9513_484+9586delGAGGTGACAGGAGGGTGGCTGAGGAGGA GGTGACAGGAGGGTGGCCAAAGAGGGAGGTGACAGGAGGGTGGCTG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21					chr22	TogoVar
SEC61G_chr7_54747253_54764211	54754646	AAGGCAAC others(67): Show AAGGCAACCTGTACCAGTACCTGGGATAAAATACCTAGTATTTAGGAGAT TTATAGTTTAGAAATTTTTTAAATC	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	406	0.0025	-74	c.197 others(91): Show c.197+1059_197+1132delGATTTAAAAAATTTCTAAACTATAAATC TCCTAAATACTAGGTATTTTATCCCAGGTACTGGTACAGGTTGCCT		SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding	3/3					chr7	TogoVar
SEPTIN2_chr2_241310925_241359027	241355590	AGACCTAG others(67): Show AGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAGCCGACTCCCCGCCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	408	0.0025	-74	c.36 others(85): Show c.3654_*3727delGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCC CAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAG		SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding				1564		chr2	TogoVar
SEPTIN8_chr5_132745819_132782239	132770063	GTATATAT others(67): Show GTATATATATATATATATGTATATATGTATATATATATGTATATATGTAT ATATATATATATGTATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	326	0.0031	-74	c.31- others(89): Show c.31-4608_31-4535delTACACATATATACATATATATATATATACA TATATACATATATATATACATATATACATATATATATATATATA		SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9					chr5	TogoVar
SFTPB_chr2_85652314_85673199	85666423	TTGTGTGT others(67): Show TTGTGTGTGTGTGTGTGTGTGTGTCCGGCTGGCTGGGGTGCTGTGTGTTT GTGTCTGGCCGGCTTGGGTGCTGTG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0013 a0009c0013t0013	a0009c0013t0013g0054 a0009c0013t0013g0054	1	426	0.0024	-74	c.393 others(89): Show c.393+120_393+193delCACAGCACCCAAGCCGGCCAGACACAAACA CACAGCACCCCAGCCAGCCGGACACACACACACACACACACACA		SFTPB	ENSG00000168878.19	transcript	ENST00000519937.7	protein_coding	4/10					chr2	TogoVar
SGCE_chr7_94579980_94661133	94659438	GAAAAGCT others(67): Show GAAAAGCTAGTTATTCCAAATAATTAGCTTTTTTCATAAAAAGCTAGTTA TTCCAAATAATTAGCTTTTTTCATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00597.hp1 others(56): Show HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG01074.hp2 HG01169.hp1 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01928.hp1 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02056.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG03492.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18960.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18972.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18985.hp1 NA18995.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(52): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0098 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0370	59	390	0.1513	-74	c.-34 others(85): Show c.-3414_-3341delTATGAAAAAAGCTAATTATTTGGAATAACTAGCT TTTTATGAAAAAAGCTAATTATTTGGAATAACTAGCTTTT		SGCE	ENSG00000127990.19	transcript	ENST00000648936.2	protein_coding				3306		chr7	TogoVar
SH2D1A_chrX_124341563_124378160	124350545	TACTATAT others(67): Show TACTATATTATATATAGTATATTATATACTATATTATATAGTATAATATA GAATATATTATATATTGTATATAAG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02083.hp1 HG02273.hp2 others(3): Show HG01123.hp1 HG02083.hp1 HG02273.hp2 HG03669.hp1 NA18981.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0279 a0001c0001t0002g0068	6	318	0.0189	-74	c.137 others(91): Show c.137+3768_137+3841delCTATATTATATATAGTATATTATATACT ATATTATATAGTATAATATAGAATATATTATATATTGTATATAAGA		SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3				INFO_REALIGN_3_PRIME	chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124351863	CCTTACTT others(67): Show CCTTACTTTTTTGACACATACAAAAATCAAACTTTTTTAACACATTGTAA ATTTATATATATACTAATCCTTGAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	318	0.0031	-74	c.137 others(91): Show c.137+5087_137+5160delTACTTTTTTGACACATACAAAAATCAAA CTTTTTTAACACATTGTAAATTTATATATATACTAATCCTTGATCT		SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3				INFO_REALIGN_3_PRIME	chrX	TogoVar

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