Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(175): Show TATATACATATATACGCGTATATATATGTATATACATATATATACGCGTA TATATATGTATATACATATATACGCGTATATATATGTATATACATATATA TACGCGTATATATATGTATATACATATATATACGCGTATATATATGTATA TACATATATATACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	164	0.0061	182	c.125 others(201): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAT ACGCGTATATATATGTATATACATATATATACGCGTATATATGTATATAC ATATATATACGCGTATATATATGTATATACATATATATACGCGTATATAT GTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(175): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATATACACACATATATGTGTGTG TATATATACACACACATATACACACACGTGTGT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0256 a0002c0002t0004g0256	1	262	0.0038	182	c.218 others(197): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAT ACACACATATATGTGTGTGTATATATACACACACATATACACACACGTGT GT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(175): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTGTGTG TATATATACACACACATATACACACATGTGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0241 a0001c0001t0020g0241	1	262	0.0038	182	c.218 others(197): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTGTGTGTATATATACACACACATATACACACATGTGT GT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(175): Show CACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATATACACACATATATGTGTGTG TATATATACACACACATATACACACACGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG03516.hp2 HG01081.hp1 HG01109.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0152 a0002c0002t0002g0155 a0002c0002t0004g0139 a0002c0002t0002g0152 a0002c0002t0002g0155 a0002c0002t0004g0139	3	262	0.0115	182	c.218 others(197): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAT ACACACATATATGTGTGTGTATATATACACACACATATACACACACGTGT GT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(175): Show CACACACATATATGTGTGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTG TATATATACACACACATATACACACATGTGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0069 a0001c0001t0005g0069	1	262	0.0038	182	c.218 others(197): Show c.218+721_218+722insACACACATATATGTGTGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAC ACACACATATATGTGTGTGTATATATACACACACATATACACACATGTGT GT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACATACA others(175): Show CACATACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATATACACACATATATGTGTGTG TATATATACACACACATATACACACATGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	262	0.0038	182	c.218 others(197): Show c.218+721_218+722insACATACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAT ACACACATATATGTGTGTGTATATATACACACACATATACACACATGTGT GT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(175): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGTGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGG GAGGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	1	340	0.0029	182	c.104 others(201): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCC CTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCA CTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCC CTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMTA1_chr1_6780454_7774706	7018128	T T	TAATGCCA others(175): Show TAATGCCAGGGCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GCCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01243.hp2 others(13): Show HG00558.hp1 HG00558.hp2 HG01243.hp2 HG02004.hp1 HG02257.hp1 HG02451.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG03041.hp2 HG03130.hp2 HG03704.hp1 HG03704.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0015 a0002c0004 a0003c0008 a0005c0007 a0006c0013 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0003t0023 a0001c0005t0005 a0001c0006t0001 a0001c0010t0004 a0001c0015t0006 a0002c0004t0011 a0003c0008t0007 a0005c0007t0014 a0006c0013t0009 a0007c0014t0001	a0001c0001t0001g0011 a0001c0001t0002g0046 a0001c0001t0003g0047 others(13): Show a0001c0001t0001g0011 a0001c0001t0002g0046 a0001c0001t0003g0047 a0001c0001t0012g0051 a0001c0001t0015g0037 a0001c0001t0020g0049 a0001c0003t0023g0045 a0001c0005t0005g0044 a0001c0006t0001g0055 a0001c0010t0004g0031 a0001c0015t0006g0043 a0002c0004t0011g0005 a0003c0008t0007g0023 a0005c0007t0014g0018 a0006c0013t0009g0033 a0007c0014t0001g0041	16	58	0.2759	182	c.235 others(201): Show c.235-73160_235-73159insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGCCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGAATGCCAGGG CTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN11_chr6_44153820_44189401	44181474	T T	TACACAAC others(175): Show TACACAACCACACCACACACACACACACACACTCACATACAGACACAACC ACACCACACACACACACACTCACATACACAACCACACTCACACACACACA CACACACAGACACAACCACACCACACACACACACTCACATACAGACACAA CCACACCACACTCACTCACACACATACACACTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	460	0.0022	182	c.193 others(199): Show c.1938+157_1938+158insCAACCACACCACACACACACACACACAC TCACATACAGACACAACCACACCACACACACACACACTCACATACACAAC CACACTCACACACACACACACACACAGACACAACCACACCACACACACAC ACTCACATACAGACACAACCACACCACACTCACTCACACACATACACACT CACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181474	T T	TACACAAC others(175): Show TACACAACCACACCACACACACACACACACTCACATACAGACACAACCAC ACCACACACACACACACTCACATACACAACCACACTCACACACACACACA CACACAGACACAACCACACCACACACACACACACTCACATACAGACACAA CCACACCACACTCACTCACACACATACACACTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01358.hp1 HG00733.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0300 a0001c0001t0008g0296 a0001c0001t0001g0300 a0001c0001t0008g0296	2	460	0.0044	182	c.193 others(199): Show c.1938+157_1938+158insCAACCACACCACACACACACACACACTC ACATACAGACACAACCACACCACACACACACACACTCACATACACAACCA CACTCACACACACACACACACACAGACACAACCACACCACACACACACAC ACTCACATACAGACACAACCACACCACACTCACTCACACACATACACACT CACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182252	C C	CCACACAC others(175): Show CCACACACACACACACATACACACTCACATAGACACAACCACACCACACT CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACACTCACATACAGACACAACCACACCACA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0091	1	460	0.0022	182	c.193 others(199): Show c.1939-669_1939-668insCACTCACATAGACACAACCACACCACAC TCACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACACTCACATACAGACACAACCACACCACACACACACACACACACA TACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182252	C C	CCACACAC others(175): Show CCACACACACACACATACACACTCACATAGACACAACCACACCACACTCA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA CACACTCACATACAGACACAACCACACCACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02717.hp1 others(3): Show HG01243.hp1 HG02055.hp2 HG02717.hp1 HG02922.hp1 HG02976.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0034 a0001c0001t0001g0280 a0001c0001t0001g0312 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0280 a0001c0001t0001g0312 a0001c0001t0001g0421 a0001c0001t0001g0425 a0003c0003t0002g0377	6	460	0.0130	182	c.193 others(199): Show c.1939-675_1939-674insTACACACTCACATAGACACAACCACACC ACACTCACACACACATACACACTCACATACAGACACAACCACACCACACT CACACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACACTCACATACAGACACAACCACACCACACACACACACACA CACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC6_chr10_59783747_59911556	59882003	T T	TGGGGAGA others(175): Show TGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0149 a0001c0003t0003g0149	1	288	0.0035	182	c.303 others(201): Show c.303+24118_303+24119insGCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTT TCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTT CTCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882004	G G	GGGGAGAA others(175): Show GGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGG AGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAG GAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0030 a0002c0004t0001g0030	1	288	0.0035	182	c.303 others(201): Show c.303+24117_303+24118insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTT TCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCT TCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CEMIP2_chr9_71678366_71773513	71752481	G G	GGGGAGGG others(175): Show GGGGAGGGTAGGGGGAGGAGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGG GAGGGGAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGGAGAGAGG GAGAGAAGGAAGTAAGGAAGTTAGGAGGGAAGGGAGGAAGGAAGGAGGGA AGGGAGGAAGGAGGGAGGGAAGGAAGCAAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00639.hp1 others(76): Show HG00140.hp2 HG00323.hp1 HG00639.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02056.hp1 HG02074.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp2 NA18964.hp2 NA18975.hp1 NA18977.hp2 NA18983.hp2 NA18990.hp1 NA18994.hp2 NA18997.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp2 NA19064.hp2 NA19068.hp2 NA19088.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0006 a0007 a0011 a0013 a0015 a0016 a0017	a0001c0001 a0001c0023 a0002c0002 others(12): Show a0001c0001 a0001c0023 a0002c0002 a0002c0008 a0002c0034 a0004c0003 a0006c0006 a0006c0027 a0007c0010 a0007c0014 a0011c0020 a0013c0035 a0015c0028 a0016c0031 a0017c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0023t0025 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0002t0014 a0002c0002t0016 a0002c0002t0017 a0002c0002t0021 a0002c0002t0026 a0002c0002t0053 a0002c0008t0001 a0002c0008t0003 a0002c0008t0006 a0002c0008t0008 a0002c0008t0012 a0002c0034t0001 a0004c0003t0006 a0006c0006t0004 a0006c0027t0009 a0007c0010t0004 a0007c0010t0009 a0007c0010t0028 a0007c0014t0009 a0007c0014t0017 a0007c0014t0035 a0011c0020t0003 a0013c0035t0016 a0015c0028t0058 a0016c0031t0026 a0017c0036t0002	a0001c0001t0001g0103 a0001c0001t0001g0241 a0001c0001t0001g0255 others(76): Show a0001c0001t0001g0103 a0001c0001t0001g0241 a0001c0001t0001g0255 a0001c0001t0001g0279 a0001c0001t0001g0285 a0001c0001t0001g0309 a0001c0001t0002g0242 a0001c0001t0002g0278 a0001c0001t0002g0300 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0262 a0001c0001t0005g0260 a0001c0001t0006g0266 a0001c0001t0008g0305 a0001c0001t0010g0128 a0001c0001t0010g0243 a0001c0001t0010g0303 a0001c0001t0012g0239 a0001c0001t0012g0263 a0001c0001t0014g0284 a0001c0001t0016g0264 a0001c0001t0018g0302 a0001c0001t0020g0312 a0001c0001t0023g0002 a0001c0023t0025g0256 a0002c0002t0001g0034 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0050 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0081 a0002c0002t0001g0150 a0002c0002t0001g0295 a0002c0002t0002g0037 a0002c0002t0002g0082 a0002c0002t0003g0065 a0002c0002t0010g0073 a0002c0002t0014g0052 a0002c0002t0016g0049 a0002c0002t0017g0042 a0002c0002t0021g0063 a0002c0002t0026g0060 a0002c0002t0053g0075 a0002c0008t0001g0088 a0002c0008t0003g0092 a0002c0008t0006g0091 a0002c0008t0008g0085 a0002c0008t0012g0086 a0002c0034t0001g0083 a0004c0003t0006g0191 a0006c0006t0004g0296 a0006c0027t0009g0258 a0007c0010t0004g0197 a0007c0010t0009g0045 a0007c0010t0028g0046 a0007c0010t0028g0047 a0007c0014t0009g0087 a0007c0014t0017g0089 a0007c0014t0035g0093 a0011c0020t0003g0068 a0013c0035t0016g0048 a0015c0028t0058g0254 a0016c0031t0026g0261 a0017c0036t0002g0072	79	320	0.2469	182	c.-12 others(199): Show c.-12-2097_-12-2096insTTCCTTGCTTCCTTCCCTCCCTCCTTCC TCCCTTCCCTCCTTCCTTCCTCCCTTCCCTCCTAACTTCCTTACTTCCTT CTCTCCCTCTCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCTCCTCCCCCTACCC TCCC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71752481	G G	GGGGAGGG others(175): Show GGGGAGGGTAGGGGGAGGAGAGGGGGAGGGAGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGGAGAGAGG GAGAGAAGGAAGTAAGGAAGTTAGGAGGGAAGGGAGGAAGGAAGGAGGGA AGGGAGGAAGGAGGGAGGGAAGGAAGCAAGGAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02109.hp2 others(17): Show HG01243.hp1 HG02055.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0013 a0001c0038 a0002c0007 others(5): Show a0001c0013 a0001c0038 a0002c0007 a0002c0008 a0006c0037 a0007c0018 a0007c0024 a0007c0025	a0001c0013t0007 a0001c0013t0045 a0001c0038t0010 others(12): Show a0001c0013t0007 a0001c0013t0045 a0001c0038t0010 a0002c0007t0003 a0002c0007t0006 a0002c0007t0007 a0002c0007t0008 a0002c0008t0008 a0002c0008t0013 a0002c0008t0044 a0006c0037t0004 a0007c0018t0004 a0007c0018t0038 a0007c0024t0009 a0007c0025t0009	a0001c0013t0007g0229 a0001c0013t0045g0281 a0001c0038t0010g0268 others(17): Show a0001c0013t0007g0229 a0001c0013t0045g0281 a0001c0038t0010g0268 a0002c0007t0003g0238 a0002c0007t0006g0271 a0002c0007t0007g0236 a0002c0007t0007g0237 a0002c0007t0007g0283 a0002c0007t0008g0269 a0002c0007t0008g0270 a0002c0007t0008g0274 a0002c0008t0008g0077 a0002c0008t0008g0080 a0002c0008t0013g0078 a0002c0008t0044g0076 a0006c0037t0004g0235 a0007c0018t0004g0272 a0007c0018t0038g0282 a0007c0024t0009g0273 a0007c0025t0009g0079	20	320	0.0625	182	c.-12 others(199): Show c.-12-2097_-12-2096insTTCCTTGCTTCCTTCCCTCCCTCCTTCC TCCCTTCCCTCCTTCCTTCCTCCCTTCCCTCCTAACTTCCTTACTTCCTT CTCTCCCTCTCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCTCCTCCCCCTACCC TCCC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEP72_chr5_607340_658553	649965	G G	GACTGTGA others(175): Show GACTGTGAGGCGTGGATTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GTGTGACTGTGAGGTGTGACTGTGAGGCGTGGATTGTGAGGTGTGACTGA GGCGTGACTGTGAGGCGTGACTGAGGCGTGGACTGTGAGGCGTGACTGTG AGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19065.hp1 NA18971.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0002 a0004c0004t0003g0002	2	91	0.0220	182	c.177 others(201): Show c.1778+2049_1778+2050insACTGTGAGGCGTGGATTGTGAGGCGT GGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGG CGTGGATTGTGAGGTGTGACTGAGGCGTGACTGTGAGGCGTGACTGAGGC GTGGACTGTGAGGCGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTG AGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CFAP47_chrX_35914734_36390317	36182762	T T	TAAAAAAA others(175): Show TAAAAAAACTCCATAAAGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAAAAACAAA AAAACAAAAAAACAAAAAAAAAAAAAAACAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0007 a0016c0018t0001g0007	1	216	0.0046	182	c.610 others(201): Show c.6104+3356_6104+3357insGAGGCAGGAGAATGGCGTGAACCTGG GAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAA AAACAAAAAAACAAAAAAACAAAAAAAAAAAAAAACAAAAAAAAAAACTC CATAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	40/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36182762	T T	TAAAAAAA others(175): Show TAAAAAAACTCCATAAAGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAAAACAAAA AAAAAAAAAAAACAAAAAAAAAAAAAAACAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0016 a0016	a0016c0073 a0016c0073	a0016c0073t0004 a0016c0073t0004	a0016c0073t0004g0137 a0016c0073t0004g0137	1	216	0.0046	182	c.610 others(201): Show c.6104+3356_6104+3357insGAGGCAGGAGAATGGCGTGAACCTGG GAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAA AACAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAACAAAAAAAAAAACTC CATAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	40/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP61_chr20_20047532_20365698	20356977	T T	TGTGAGTG others(175): Show TGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTG GAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTCACAC TGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAG TGGTCACACTGAGGGGAGGTGGTCATAGTGTGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0068 a0003c0005t0002g0068	1	236	0.0042	182	c.351 others(201): Show c.3514-3232_3514-3231insTGAGTGAGGAGGTAGTCACACTGAGG GGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAG TCACACTGAGAGGAGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAG GTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAG TGTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHFR_chr12_132827356_132892605	132868573	G G	GGGAGGCT others(175): Show GGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCATCTCAAAACAAACAAACAAACAAAAAACAAAAAAAAATTAGCCGGGC GTGGTTGCAGGCACCTGTAGTCCCAGCTACTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(191): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0010 a0002c0002 others(7): Show a0001c0001 a0001c0010 a0002c0002 a0002c0007 a0002c0011 a0002c0013 a0003c0003 a0003c0008 a0004c0006 a0006c0014	a0001c0001t0006 a0001c0001t0012 a0001c0001t0033 others(70): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0033 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0010t0033 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0048 a0002c0002t0049 a0002c0002t0120 a0002c0002t0121 a0002c0002t0122 a0002c0002t0123 a0002c0002t0125 a0002c0002t0126 a0002c0002t0127 a0002c0002t0128 a0002c0002t0129 a0002c0002t0130 a0002c0002t0132 a0002c0002t0133 a0002c0002t0136 a0002c0002t0137 a0002c0002t0138 a0002c0002t0139 a0002c0002t0140 a0002c0002t0141 a0002c0002t0142 a0002c0007t0002 a0002c0011t0124 a0002c0013t0005 a0003c0003t0001 a0003c0003t0013 a0003c0003t0019 a0003c0003t0020 a0003c0003t0037 a0003c0003t0061 a0003c0003t0062 a0003c0003t0063 a0003c0003t0064 a0003c0003t0065 a0003c0003t0066 a0003c0003t0067 a0003c0003t0068 a0003c0003t0069 a0003c0008t0019 a0004c0006t0031 a0004c0006t0032 a0004c0006t0131 a0004c0006t0134 a0004c0006t0135 a0006c0014t0002	a0001c0001t0006g0126 a0001c0001t0006g0132 a0001c0001t0006g0134 others(184): Show a0001c0001t0006g0126 a0001c0001t0006g0132 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0145 a0001c0001t0006g0147 a0001c0001t0006g0150 a0001c0001t0006g0152 a0001c0001t0012g0002 a0001c0001t0012g0123 a0001c0001t0012g0125 a0001c0001t0012g0148 a0001c0001t0012g0168 a0001c0001t0033g0129 a0001c0001t0033g0149 a0001c0001t0050g0130 a0001c0001t0050g0136 a0001c0001t0051g0146 a0001c0001t0051g0153 a0001c0001t0052g0169 a0001c0001t0052g0170 a0001c0001t0053g0141 a0001c0001t0053g0151 a0001c0001t0143g0124 a0001c0001t0144g0127 a0001c0001t0145g0312 a0001c0001t0146g0131 a0001c0001t0147g0133 a0001c0001t0148g0143 a0001c0001t0149g0142 a0001c0001t0150g0144 a0001c0001t0151g0140 a0001c0001t0152g0154 a0001c0001t0153g0155 a0001c0010t0033g0128 a0002c0002t0002g0009 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0055 a0002c0002t0002g0062 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0094 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0113 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0122 a0002c0002t0004g0006 a0002c0002t0004g0054 a0002c0002t0004g0070 a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0004g0077 a0002c0002t0004g0108 a0002c0002t0004g0110 a0002c0002t0004g0111 a0002c0002t0004g0120 a0002c0002t0004g0165 a0002c0002t0004g0166 a0002c0002t0005g0008 a0002c0002t0005g0071 a0002c0002t0005g0087 a0002c0002t0005g0088 a0002c0002t0005g0090 a0002c0002t0005g0092 a0002c0002t0005g0093 a0002c0002t0005g0099 a0002c0002t0005g0107 a0002c0002t0005g0112 a0002c0002t0005g0114 a0002c0002t0028g0056 a0002c0002t0028g0057 a0002c0002t0028g0060 a0002c0002t0029g0078 a0002c0002t0029g0097 a0002c0002t0029g0167 a0002c0002t0030g0101 a0002c0002t0030g0102 a0002c0002t0030g0103 a0002c0002t0045g0007 a0002c0002t0046g0082 a0002c0002t0046g0083 a0002c0002t0047g0010 a0002c0002t0048g0040 a0002c0002t0048g0044 a0002c0002t0049g0042 a0002c0002t0049g0043 a0002c0002t0120g0091 a0002c0002t0121g0061 a0002c0002t0122g0058 a0002c0002t0123g0109 a0002c0002t0125g0066 a0002c0002t0126g0117 a0002c0002t0127g0076 a0002c0002t0128g0051 a0002c0002t0129g0119 a0002c0002t0130g0095 a0002c0002t0132g0047 a0002c0002t0133g0041 a0002c0002t0136g0085 a0002c0002t0137g0067 a0002c0002t0138g0089 a0002c0002t0139g0063 a0002c0002t0140g0096 a0002c0002t0141g0084 a0002c0002t0142g0068 a0002c0007t0002g0064 a0002c0007t0002g0069 a0002c0011t0124g0059 a0002c0013t0005g0121 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0001g0325 a0003c0003t0001g0326 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0329 a0003c0003t0001g0330 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0337 a0003c0003t0001g0339 a0003c0003t0001g0340 a0003c0003t0001g0341 a0003c0003t0001g0342 a0003c0003t0001g0343 a0003c0003t0001g0344 a0003c0003t0001g0353 a0003c0003t0001g0354 a0003c0003t0001g0355 a0003c0003t0001g0356 a0003c0003t0013g0021 a0003c0003t0013g0022 a0003c0003t0013g0024 a0003c0003t0013g0025 a0003c0003t0013g0026 a0003c0003t0013g0027 a0003c0003t0019g0346 a0003c0003t0019g0351 a0003c0003t0020g0319 a0003c0003t0020g0320 a0003c0003t0020g0322 a0003c0003t0020g0324 a0003c0003t0037g0347 a0003c0003t0037g0348 a0003c0003t0061g0020 a0003c0003t0062g0029 a0003c0003t0063g0345 a0003c0003t0064g0028 a0003c0003t0065g0023 a0003c0003t0066g0338 a0003c0003t0067g0336 a0003c0003t0068g0321 a0003c0003t0069g0323 a0003c0008t0019g0349 a0003c0008t0019g0350 a0004c0006t0031g0161 a0004c0006t0031g0162 a0004c0006t0031g0163 a0004c0006t0032g0156 a0004c0006t0032g0159 a0004c0006t0032g0160 a0004c0006t0131g0158 a0004c0006t0134g0157 a0004c0006t0135g0164 a0006c0014t0002g0049	194	378	0.5132	182	c.583 others(199): Show c.583+1045_583+1046insTGAGTAGCTGGGACTACAGGTGCCTGCA ACCACGCCCGGCTAATTTTTTTTTGTTTTTTGTTTGTTTGTTTGTTTTGA GATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGC CTCC	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	6/17			chr12	TogoVar
CHRM3_chr1_239381568_239920450	239732803	G G	GTATACCT others(175): Show GTATACCTAATATCTCATTTAGATAAGTATACCTAATATCTCACTTAGAT AAGTATACCTAATATCTCACTTAGATAAGTATACCTAATATCTCACTTAG ATAAGATACCTAATATCTCATTTAGATAAGTATATCTAATATCTCATTTA GATAAGTATACCTAATATCTCACTTAGATAAGT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0088 a0001c0001t0024g0088	1	116	0.0086	182	c.-14 others(203): Show c.-147+54515_-147+54516insTATACCTAATATCTCATTTAGATA AGTATACCTAATATCTCACTTAGATAAGTATACCTAATATCTCACTTAGA TAAGTATACCTAATATCTCACTTAGATAAGATACCTAATATCTCATTTAG ATAAGTATATCTAATATCTCATTTAGATAAGTATACCTAATATCTCACTT AGATAAGT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6			chr1	TogoVar
COL21A1_chr6_56051590_56252580	56097878	T T	TATATAAA others(175): Show TATATAAATATATATAAATATATAAATATATATAAATATATAAATATATA AATATATGTAAATATATAAATATATAAAAATATATATAAATATAAAAATG TATATAAATATATAAATATATATAAATATATTAGTAAATATATAAATATA TATAAATATATATAAATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	264	0.0038	182	c.181 others(201): Show c.1812+3593_1812+3594insTTATATATATTTATATATTTATATAT ATTTATATATATTTATATATTTACTAATATATTTATATATATTTATATAT TTATATACATTTTTATATTTATATATATTTTTATATATTTATATATTTAC ATATATTTATATATTTATATATTTATATATATTTATATATTTATATATAT TTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A3_chr2_227159624_227319792	227203018	T T	TATATATA others(175): Show TATATATACATATATGTGTATAATACACTATGTGTATATATACATATATG TGTATATATGTGTATATATACATATATGTGTATATATACATATATGTGTA TATATGTGTATATATACATATATATACATATATGTGTATATATACGTATA TATACATATATGTGTATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02155.hp2 NA18945.hp1 others(5): Show HG02080.hp2 HG02155.hp2 NA18945.hp1 NA18947.hp2 NA18955.hp2 NA18957.hp1 NA18963.hp2 NA19003.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0013	a0001c0001 a0003c0002 a0004c0003 others(1): Show a0001c0001 a0003c0002 a0004c0003 a0013c0015	a0001c0001t0001 a0001c0001t0002 a0003c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0002t0003 a0004c0003t0003 a0013c0015t0002	a0001c0001t0001g0212 a0001c0001t0002g0301 a0003c0002t0003g0123 others(5): Show a0001c0001t0001g0212 a0001c0001t0002g0301 a0003c0002t0003g0123 a0003c0002t0003g0136 a0004c0003t0003g0287 a0004c0003t0003g0288 a0013c0015t0002g0074 a0013c0015t0002g0075	8	344	0.0233	182	c.88- others(199): Show c.88-34944_88-34943insACATATATGTGTATAATACACTATGTGT ATATATACATATATGTGTATATATGTGTATATATACATATATGTGTATAT ATACATATATGTGTATATATGTGTATATATACATATATATACATATATGT GTATATATACGTATATATACATATATGTGTATATATACGTATATATACAT ATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3605289	C C	CGTGGGTG others(175): Show CGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGTGCCGAGGAGGGG GCGGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGT GCCGAGGAGGGGCGGGGAGTCATGTGGGTGCCGAGGAGGGGGCGGGGGAG TCACGTGGGTGCCGAGGAGGGGCGGGGAGTCAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	378	0.0027	182	c.130 others(197): Show c.130+930_130+931insCGGGGAGTCATGTGGGTGCCGAGGAGGGGG CGGGGGAGTCACGTGGGTGCCGAGGAGGGGCGGGGAGTCATGTGGGTGCC GAGGAGGGGGCGGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGT CACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGTGCCGAGGAGG GG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD10_chr5_116080025_116298287	116158501	T T	TCTCCTCT others(175): Show TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCGTCTCCTCTCTCCCCCTCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	350	0.0029	182	c.510 others(201): Show c.510+24324_510+24325insTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCCC CCTCCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CORIN_chr4_47589001_47843067	47682287	C C	CAAAAAAT others(175): Show CAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	264	0.0038	182	c.102 others(201): Show c.1021+1443_1021+1444insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGACTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTT	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	7/21			chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(175): Show GCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACAC CGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGG AGTCCCCCCGGCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCC CCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0310 a0001c0005t0002g0310	1	348	0.0029	182	c.927 others(197): Show c.927+237_927+238insACCCCGCCCCCTCAGTCAGTGGCCCCGCCC CCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCGGCCGCCCCTGCCCCCGCCCCCGCCCCCGCC CCCGCCCCCCCCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCC CC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPT1C_chr19_49686116_49718731	49702080	A A	AATAAATA others(175): Show AATAAATATATATTTATTTATAATTTATAAATAAATATATATTTATTTAT AAATTATAAATATATATTTATTTATAAATTATAAATAAATATATATTTAT TTATTTATAAATTATAAATAAATATATATTTATTTATTTATAAATTATAA ATAAATATATATTTATAAATTATAAATAAATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03471.hp1 HG02257.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0159 a0001c0001t0001g0163	2	350	0.0057	182	c.693 others(197): Show c.693+449_693+450insAATATATATTTATTTATAATTTATAAATAA ATATATATTTATTTATAAATTATAAATATATATTTATTTATAAATTATAA ATAAATATATATTTATTTATTTATAAATTATAAATAAATATATATTTATT TATTTATAAATTATAAATAAATATATATTTATAAATTATAAATAAATATA TA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(175): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	324	0.0031	182	c.101 others(199): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCC TCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGG TCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCCACC others(175): Show CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	324	0.0031	182	c.101 others(199): Show c.1010-538_1010-537insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGT CCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRKL_chr22_20912407_20958747	20955479	G G	GATAGAGA others(175): Show GATAGAGATATATATATATATATATATATATATATATATATATATATATA TATATATATATTTCTATATATATATATATATATATATATTTCTATATATA TATATATTTCTATATATATATATTTCTATATATATATATATTTCTATATA TATATATTTCTATATATATATATTTCTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	370	0.0027	182	c.56 others(193): Show c.5634_*5635insATAGAGATATATATATATATATATATATATATAT ATATATATATATATATATATATATATTTCTATATATATATATATATATAT ATATTTCTATATATATATATATTTCTATATATATATATTTCTATATATAT ATATATTTCTATATATATATATTTCTATATATATATATTTCTATATAT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1733		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(175): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATTTCTATATATATATATATATATATTTCTATATATATATATATTTCT ATATATATATATTTCTATATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	370	0.0027	182	c.56 others(193): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATATATATATTTCTATATATATATATATATATATTTCTATA TATATATATATTTCTATATATATATATTTCTATATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(175): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATTTCTATATATATATATATATATATATTTCTATATATATATATATTTCT ATATATATATATTTCTATATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0184 a0001c0001t0033g0184	1	370	0.0027	182	c.56 others(193): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATATATATTTCTATATATATATATATATATATATTTCTATA TATATATATATTTCTATATATATATATTTCTATATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(175): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAG GGGAGAGGAGGGGGAGAGGAGGGGGAGGCGGAGGGGGAGGCGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG02055.hp1 others(8): Show HG01081.hp2 HG01243.hp1 HG02055.hp1 HG02647.hp1 HG02922.hp1 HG03098.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0007 a0022 a0027 a0038	a0001c0085 a0002c0035 a0002c0072 others(8): Show a0001c0085 a0002c0035 a0002c0072 a0004c0014 a0004c0058 a0005c0064 a0005c0107 a0007c0083 a0022c0062 a0027c0110 a0038c0104	a0001c0085t0020 a0002c0035t0047 a0002c0072t0003 others(8): Show a0001c0085t0020 a0002c0035t0047 a0002c0072t0003 a0004c0014t0055 a0004c0058t0057 a0005c0064t0051 a0005c0107t0068 a0007c0083t0004 a0022c0062t0056 a0027c0110t0074 a0038c0104t0071	a0001c0085t0020g0060 a0002c0035t0047g0076 a0002c0072t0003g0066 others(8): Show a0001c0085t0020g0060 a0002c0035t0047g0076 a0002c0072t0003g0066 a0004c0014t0055g0056 a0004c0058t0057g0117 a0005c0064t0051g0078 a0005c0107t0068g0073 a0007c0083t0004g0006 a0022c0062t0056g0062 a0027c0110t0074g0082 a0038c0104t0071g0058	11	126	0.0873	182	c.416 others(203): Show c.416-142659_416-142658insCCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCGCCTCCCCCTCCGCCTCCCCCTCCTCTCCCCC TCCTCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCC TCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(175): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAG GGGAGAGGAGGGGGAGAGGAGGGGGAGGCGGAGGGGGAGGCGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0031 a0031	a0031c0113 a0031c0113	a0031c0113t0011 a0031c0113t0011	a0031c0113t0011g0043 a0031c0113t0011g0043	1	126	0.0079	182	c.416 others(203): Show c.416-142659_416-142658insCCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCGCCTCCCCCTCCGCCTCCCCCTCCTCTCCCCC TCCTCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCCTCC CCCTCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTCACATCCC TCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1967760	G G	GACCACCC others(175): Show GACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCATCCTCCCTCTTCCCT CCTCTCCAGGCTGCCGCCTACCACCCTTCAGTTCTGCAGGTGGGGGCTCC TCCCTCCTCCCCAGGCTGCCCCCACCACCCTTCAGTTCTGCAGGTGGGGC TCCTCCCTCCTCCCTCCTCCCCAGGCTGCCCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02615.hp1 others(1): Show HG01884.hp2 HG02258.hp2 HG02615.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0019	4	382	0.0105	182	c.-26 others(201): Show c.-265-1715_-265-1714insATCCTCCCTCTTCCCTCCTCTCCAGG CTGCCGCCTACCACCCTTCAGTTCTGCAGGTGGGGGCTCCTCCCTCCTCC CCAGGCTGCCCCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCC TCCCTCCTCCCCAGGCTGCCCCCACCACCCTTCAGTTCTGCAGGTGGGGC TCCTCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CXorf51A_chrX_146809106_146819744	146812258	C C	CACATATA others(175): Show CACATATATGTGTACATATGTGTATATACGTATATACACACATATATGTG TACATATATGTGTATATATGTATATACACACATATATGTGTACATATATG TGTATATATGTATATACACACGTATATGTGTACATATATGTGTATATATG TATATACACACGTATATGTGTACATATATGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02559.hp2 others(2): Show HG01891.hp1 HG02451.hp2 HG02559.hp2 HG02723.hp1 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0002c0009t0001 a0001c0001t0001 a0002c0009t0001	a0001c0001t0001g0003 a0002c0009t0001g0014 a0001c0001t0001g0003 a0002c0009t0001g0014	5	264	0.0189	182	c.19 others(193): Show c.1948_*1949insACACATATATGTACACATATACGTGTGTATATAC ATATATACACATATATGTACACATATACGTGTGTATATACATATATACAC ATATATGTACACATATATGTGTGTATATACATATATACACATATATGTAC ACATATATGTGTGTATATACGTATATACACATATGTACACATATATGT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1847		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812258	C C	CACATATA others(175): Show CACATATATGTGTACATATGTGTATATACGTATATACACACATATATGTG TACATATATGTGTATATATGTATATACACACATATATGTGTACATATATG TGTATATATGTATATACACACGTATATGTGTACATATATGTGTATATATG TATATACACACGTATATGTGTACATATATGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02451.hp2 others(2): Show HG01243.hp1 HG01891.hp2 HG02451.hp2 HG02559.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	272	0.0184	182	c.19 others(193): Show c.1950_*1951insACATATATGTGTACATATGTGTATATACGTATAT ACACACATATATGTGTACATATATGTGTATATATGTATATACACACATAT ATGTGTACATATATGTGTATATATGTATATACACACGTATATGTGTACAT ATATGTGTATATATGTATATACACACGTATATGTGTACATATATGTGT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1848		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269082	T T	TATTATAT others(175): Show TATTATATAATATATATAATATATATATTATATATAATATATAATATATT ATTATATATATTATAAATTATATAATATATATAATATATATATTATATAT AATATATTATATATATATTATATAATATATAATATATATAATATATAATA TATTATATATAATATATTATATATTATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG03225.hp1 HG02258.hp1 HG02630.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045	3	240	0.0125	182	c.36 others(193): Show c.3650_*3651insTATTATATAATATATAATATATTATATATAATAT ATTATATATTATATATATTATATATTATATAATATATATATAATATATTA TATATAATATATATATTATATATATTATATAATTTATAATATATATAATA ATATATTATATATTATATATAATATATATATTATATATATTATATAAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2385		chrX	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(175): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0015 a0001c0002t0007g0015	1	380	0.0026	182	c.-11 others(193): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATATATATATATATATATATATATATATATATATTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DEAF1_chr11_639233_700222	665147	G G	GTCCTGGC others(175): Show GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01943.hp1 HG02148.hp1 others(1): Show HG01167.hp1 HG01943.hp1 HG02148.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0047 a0001c0001t0001g0099 a0001c0001t0001g0191 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0099 a0001c0001t0001g0191 a0001c0003t0001g0056	4	345	0.0116	182	c.150 others(201): Show c.1503+9388_1503+9389insGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGA	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEPDC1B_chr5_60591912_60705166	60667541	A A	AAAAAATG others(175): Show AAAAAATGGATATTTTACATATATACGAAAAATGGATATTTTACATATAT ACGAAAAATGGATATTTTACATATATACGAAAAATGGATATTTTACATAT ATACGAAAAATGGATATTTTACATATATACGAAAAATGGATATTTTACAT ATATACGAAAAATGGATATTTTACATATATACG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	292	0.0034	182	c.314 others(201): Show c.314+19420_314+19421insCGTATATATGTAAAATATCCATTTTT CGTATATATGTAAAATATCCATTTTTCGTATATATGTAAAATATCCATTT TTCGTATATATGTAAAATATCCATTTTTCGTATATATGTAAAATATCCAT TTTTCGTATATATGTAAAATATCCATTTTTCGTATATATGTAAAATATCC ATTTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668137	T T	TTATATAT others(175): Show TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATG GATATTTTATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01975.hp1 HG01496.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0037 a0001c0001t0001g0051	2	292	0.0069	182	c.314 others(201): Show c.314+18824_314+18825insTAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATA TATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668233	T T	TTATATAT others(175): Show TTATATATATATATATAAAATGGATATTTTATATATATATAAAATGGATA TTTTATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTATATATATATATATATAAAATGGATATTATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	292	0.0034	182	c.314 others(201): Show c.314+18728_314+18729insTATAATATCCATTTTATATATATATA TATATAATATCCATTTTATATATATATATAAAATATCCATTTTATATATA TATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATA TATAAAATATCCATTTTATATATATATAAAATATCCATTTTATATATATA TATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGAT1_chr8_144309584_144331852	144313660	G G	GCGCCTCC others(175): Show GCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCTCCCCGCCTCC CCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCG CCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCAC CGCCTCCCCGCACCGCCTCCCCGCGCCGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	182	c.28 others(193): Show c.2893_*2894insGGAGGCGGCGCGGGGAGGCGGTGCGGGGAGGCGG TGCGGGGAGGCGGGGAGGCGGGGCGGGGAGGCGGGGAGGCGCGGGGAGGC GGGGCGGGGAGGCGGGGAGGCGGTGCGGGGAGGCGGGGAGGCGGTGCGGG GAGGCGGGGAGGCGGTGCGGGGAGGCGGTGCGGGGAGGCGGGGAGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		923		chr8	TogoVar
DNAJB6_chr7_157332004_157422439	157400290	C C	CGCCTTCG others(175): Show CGCCTTCGTGTACGCACTTGTATGTAGGGAGGTCTGAACATGGGGGATGC CTGGGTCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGAGGTCTGAGCAC GGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGGGA GGTCTGAGCATGGGGGATGCCCGGGTCCCCGTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	372	0.0027	182	c.692 others(199): Show c.692-9484_692-9483insTGTAGGGAGGTCTGAACATGGGGGATGC CTGGGTCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGAGGTCTGAGCAC GGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGGGA GGTCTGAGCATGGGGGATGCCCGGGTCCCCGTTGCCTTCGTGTACGCACT TGTA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CCCCCTGC others(175): Show CCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTG CAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	250	0.0040	182	c.-10 others(201): Show c.-107+5249_-107+5250insTGCCCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGC AGCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619093	G G	GCCCCCCC others(175): Show GCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	250	0.0040	182	c.-10 others(201): Show c.-107+5380_-107+5381insCTGCTCCCCTCCCTGCAGCTCCATGC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619208	C C	CTCCCTGC others(175): Show CTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCTCCCTGCTCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02148.hp1 HG03491.hp1 HG01243.hp2 HG02148.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0048 a0001c0001t0001g0070 a0001c0001t0001g0079	3	250	0.0120	182	c.-10 others(201): Show c.-107+5489_-107+5490insTCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCTCCCTGCTCCCTCC CTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar

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