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
FAM120A_chr9_93446685_93571112	93545780	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19002.hp1 HG02717.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0090 a0001c0003t0002g0029 a0001c0001t0003g0090 a0001c0003t0002g0029	2	98	0.0204	27	c.215 others(46): Show c.2159+2335_2159+2336insTTTTTTTTTTTTTTTTTTTTTTTTTT T	FAM120A	ENSG00000048828.18	transcript	ENST00000277165.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM120B_chr6_170301758_170412067	170407726	C C	CAGACAAA others(20): Show CAGACAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	85	0.0118	27	c.29 others(38): Show c.2975_*2976insAGACAAAAAAAAAAAAAAAAAAAAAAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding		660		chr6	TogoVar
FAM124A_chr13_51217398_51289239	51288475	T T	TCCATCTC others(20): Show TCCATCTCCTCCTCCTCCTCCATCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG03130.hp1 HG03195.hp1 others(2): Show HG02647.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0002 a0001c0001t0017 a0001c0007t0001 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0007t0001 a0001c0009t0020 a0001c0009t0033	a0001c0001t0002g0188 a0001c0001t0017g0192 a0001c0007t0001g0030 others(2): Show a0001c0001t0002g0188 a0001c0001t0017g0192 a0001c0007t0001g0030 a0001c0009t0020g0110 a0001c0009t0033g0213	5	404	0.0124	27	c.72 others(38): Show c.7219_*7220insCCATCTCCTCCTCCTCCTCCATCTCCC	FAM124A	ENSG00000150510.17	transcript	ENST00000322475.13	protein_coding		4237		chr13	TogoVar
FAM136A_chr2_70290976_70307067	70302047	G G	GCGCCCAT others(20): Show GCGCCCATATGGAATCGGCGTACGGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02976.hp2 HG03098.hp2 others(1): Show HG02818.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0009 a0002c0002t0008 a0002c0002t0009	a0002c0002t0008g0035 a0002c0002t0009g0034 a0002c0002t0008g0035 a0002c0002t0009g0034	4	438	0.0091	27	c.-37 others(34): Show c.-37_-36insGGCCCGTACGCCGATTCCATATGGGCG	FAM136A	ENSG00000035141.10	transcript	ENST00000430566.6	protein_coding	1/3	37		chr2	TogoVar
FAM13A_chr4_88720960_89062185	88913100	G G	GAGGAGGA others(20): Show GAGGAGGAAGAGGAAGAGGAAGAAGAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02486.hp2 others(6): Show HG02055.hp2 HG02280.hp2 HG02486.hp2 HG02615.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 NA18906.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0010	a0001c0003 a0001c0005 a0002c0004 others(3): Show a0001c0003 a0001c0005 a0002c0004 a0005c0014 a0009c0015 a0010c0028	a0001c0003t0013 a0001c0003t0037 a0001c0005t0019 others(4): Show a0001c0003t0013 a0001c0003t0037 a0001c0005t0019 a0002c0004t0021 a0005c0014t0006 a0009c0015t0006 a0010c0028t0035	a0001c0003t0013g0041 a0001c0003t0037g0199 a0001c0005t0019g0204 others(6): Show a0001c0003t0013g0041 a0001c0003t0037g0199 a0001c0005t0019g0204 a0002c0004t0021g0193 a0002c0004t0021g0205 a0005c0014t0006g0187 a0005c0014t0006g0201 a0009c0015t0006g0203 a0010c0028t0035g0202	9	206	0.0437	27	c.760 others(44): Show c.760-6665_760-6639dupGTTCTTCTTCCTCTTCCTCTTCCTCCT	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	5/23			chr4	TogoVar
FAM13A_chr4_88720960_89062185	88945783	G G	GTATATAT others(20): Show GTATATATATATATAAGTATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0029 a0002c0004t0029	a0002c0004t0029g0100 a0002c0004t0029g0100	1	196	0.0051	27	c.606 others(44): Show c.606-7569_606-7543dupATATATATATACTTATATATATATATA	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	4/23			chr4	TogoVar
FAM13A_chr4_88720960_89062185	89061609	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0103 a0001c0005t0009g0103	1	30	0.0333	27	c.-46 others(38): Show c.-4646_-4645insCAAAAAAAAAAAAAAAAAAAAAAAAAA	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding		4425		chr4	TogoVar
FAM149A_chr4_186099704_186180337	186104754	C C	CGGCGGGC others(20): Show CGGCGGGCGGCGGGCGGCGGGCGTCTGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0043 a0001c0010t0043	a0001c0010t0043g0252 a0001c0010t0043g0252	1	388	0.0026	27	c.-30 others(36): Show c.-308_-307insGCGGGCGTCTGGGGCGGGCGGCGGGCG	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/14	307	INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM163A_chr1_179738291_179821198	179795958	C C	CTATTATT others(20): Show CTATTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00544.hp2 others(22): Show HG00099.hp1 HG00323.hp1 HG00544.hp2 HG00738.hp2 HG01261.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02647.hp2 HG02698.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG03195.hp2 HG03225.hp1 HG03516.hp2 HG03669.hp2 HG03834.hp2 HG04199.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0002t0002	a0001c0001t0001g0141 a0001c0001t0002g0013 a0001c0001t0003g0033 others(20): Show a0001c0001t0001g0141 a0001c0001t0002g0013 a0001c0001t0003g0033 a0001c0001t0003g0142 a0001c0001t0003g0205 a0001c0001t0004g0115 a0001c0001t0004g0165 a0001c0001t0005g0046 a0001c0001t0006g0003 a0001c0001t0006g0029 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0009g0200 a0001c0001t0010g0098 a0001c0001t0012g0015 a0001c0001t0014g0047 a0001c0001t0014g0084 a0001c0001t0014g0136 a0001c0001t0022g0159 a0001c0001t0024g0194 a0001c0001t0029g0076 a0001c0002t0002g0188 a0001c0002t0002g0210	25	129	0.1938	27	c.-13 others(48): Show c.-135-11818_-135-11817insATTATTATTATTATTATTATTATT ATT	FAM163A	ENSG00000143340.7	transcript	ENST00000341785.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM167B_chr1_32242222_32253856	32243103	T T	TTTATTTA others(20): Show TTTATTTATTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01358.hp2 NA19065.hp2 others(1): Show HG00423.hp2 HG01358.hp2 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0001t0001g0001 a0001c0002t0001g0001	4	312	0.0128	27	c.-43 others(38): Show c.-4319_-4318insTTATTTATTTATTTATTTATTTATTTA	FAM167B	ENSG00000183615.6	transcript	ENST00000373582.4	protein_coding		4118		chr1	TogoVar
FAM168A_chr11_73395487_73603112	73433076	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0140	1	92	0.0109	27	c.71- others(42): Show c.71-2333_71-2307dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	2/7			chr11	TogoVar
FAM168A_chr11_73395487_73603112	73529796	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0134 a0001c0001t0041g0134	1	86	0.0116	27	c.-18 others(46): Show c.-18-61305_-18-61304insAAAAAAAAAAAAAAAAAAAAAAAAAA A	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM171A2_chr17_44348215_44368853	44368146	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA20805.hp2 NA19081.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0063 a0001c0001t0003g0017 a0001c0001t0001g0063 a0001c0001t0003g0017	2	324	0.0062	27	c.-44 others(38): Show c.-4433_-4432insATATATATATATATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4294		chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368146	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	323	0.0031	27	c.-44 others(38): Show c.-4433_-4432insAAATATATATATATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4294		chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368147	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	381	0.0026	27	c.-44 others(38): Show c.-4434_-4433insTATATATATATATATATATATATATAT	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4295		chr17	TogoVar
FAM174B_chr15_92612448_92660775	92632013	C C	CCAAATTG others(20): Show CCAAATTGGATAGGAATAGTCTTCCTCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02630.hp1 NA20752.hp1 HG00642.hp1 HG02630.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0004 a0001c0001t0011 a0003c0004t0004 a0001c0001t0004 a0001c0001t0011 a0003c0004t0004	a0001c0001t0004g0122 a0001c0001t0011g0123 a0003c0004t0004g0368 a0001c0001t0004g0122 a0001c0001t0011g0123 a0003c0004t0004g0368	3	392	0.0077	27	c.345 others(44): Show c.345-1669_345-1668insTGAGGAAGACTATTCCTATCCAATTTG	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM181B_chr11_82724940_82738864	82728870	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG02056.hp1 others(32): Show HG00423.hp2 HG00544.hp1 HG02056.hp1 HG02056.hp2 HG03942.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18944.hp2 NA18957.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19086.hp2 NA19090.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0006 a0005c0007 a0002c0002 a0002c0006 a0005c0007	a0002c0002t0001 a0002c0002t0010 a0002c0002t0011 others(2): Show a0002c0002t0001 a0002c0002t0010 a0002c0002t0011 a0002c0006t0001 a0005c0007t0001	a0002c0002t0001g0000 a0002c0002t0010g0000 a0002c0002t0011g0000 others(2): Show a0002c0002t0001g0000 a0002c0002t0010g0000 a0002c0002t0011g0000 a0002c0006t0001g0000 a0005c0007t0001g0000	35	346	0.1012	27	c.35 others(38): Show c.3578_*3579insTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAM181B	ENSG00000182103.5	transcript	ENST00000329203.5	protein_coding		1069		chr11	TogoVar
FAM181B_chr11_82724940_82738864	82728871	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0000 a0003c0005t0001g0000	1	229	0.0044	27	c.35 others(38): Show c.3577_*3578insTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAM181B	ENSG00000182103.5	transcript	ENST00000329203.5	protein_coding		1068		chr11	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18985.hp1 NA18975.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0166 a0001c0001t0001g0170	2	51	0.0392	27	c.291 others(46): Show c.2916-3057_2916-3056insAAAAATATATATATATATATATATAT A	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01106.hp1 others(6): Show HG00140.hp2 HG00642.hp1 HG01106.hp1 HG01109.hp2 HG01255.hp1 HG02698.hp1 HG03491.hp2 HG03492.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 others(6): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0009g0003	9	58	0.1552	27	c.291 others(46): Show c.2916-3057_2916-3056insAAAAAAAAATATATATATATATATAT A	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184B_chr4_17624306_17786621	17641461	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0110 a0001c0005t0010g0110	1	5	0.2000	27	c.251 others(44): Show c.2519+568_2519+594dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	13/17			chr4	TogoVar
FAM187B_chr19_35219800_35233739	35231744	T T	TTTGGGAG others(20): Show TTTGGGAGATGGAGGTTGCAGTAAGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0006 a0002c0005t0001g0006	1	448	0.0022	27	c.-30 others(38): Show c.-3065_-3064insCAGCTTACTGCAACCTCCATCTCCCAA	FAM187B	ENSG00000177558.4	transcript	ENST00000324675.4	protein_coding		3006		chr19	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19010.hp2 HG02818.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0176 a0001c0002t0009g0239 a0001c0001t0001g0176 a0001c0002t0009g0239	2	82	0.0244	27	c.502 others(44): Show c.502-7999_502-7998insATATATATATATATATATTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	81	0.0123	27	c.502 others(44): Show c.502-7999_502-7998insATATATATATATATATTTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM219A_chr9_34393184_34463570	34430846	T T	TAACAACA others(20): Show TAACAACAACAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG03098.hp2 others(1): Show HG01243.hp1 HG02451.hp1 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0006 a0001c0001t0001g0106 a0001c0001t0001g0108	4	297	0.0135	27	c.61- others(44): Show c.61-24883_61-24882insGTTGTTGTTGTTGTTGTTGTTGTTGTT	FAM219A	ENSG00000164970.15	transcript	ENST00000651358.1	protein_coding	1/5			chr9	TogoVar
FAM220A_chr7_6324411_6353967	6343773	C C	CTGCCCTA others(20): Show CTGCCCTAACCTCCTTAAAATGCCTCAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0109 a0004c0004t0002g0109	1	418	0.0024	27	c.-82 others(44): Show c.-82+4799_-82+4800insTTGAGGCATTTTAAGGAGGTTAGGGCA	FAM220A	ENSG00000178397.13	transcript	ENST00000313324.9	protein_coding	1/1			chr7	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0239 a0001c0002t0002g0239	1	97	0.0103	27	c.-40 others(46): Show c.-40-12013_-40-12012insAAATATATATATATATATATATATAT A	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18947.hp1 NA19009.hp1 others(1): Show NA18943.hp1 NA18947.hp1 NA19009.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0196 a0001c0002t0002g0215 a0001c0002t0002g0230 others(1): Show a0001c0002t0002g0196 a0001c0002t0002g0215 a0001c0002t0002g0230 a0001c0002t0006g0194	4	100	0.0400	27	c.-40 others(46): Show c.-40-12013_-40-12012insAAAAAAATATATATATATATATATAT A	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28790883	A A	AAATTTTT others(20): Show AAATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0259 a0001c0001t0004g0259	1	273	0.0037	27	c.-40 others(46): Show c.-40-24177_-40-24176insAAAAAAAAAAAAAAAAAAAAAAAAAT T	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28790884	C C	CATTTTTT others(20): Show CATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02280.hp2 NA20300.hp2 HG00738.hp1 HG02280.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0062 a0001c0001t0001g0095 a0001c0010t0001g0098 a0001c0001t0001g0062 a0001c0001t0001g0095 a0001c0010t0001g0098	3	15	0.2000	27	c.-40 others(46): Show c.-40-24178_-40-24177insAAAAAAAAAAAAAAAAAAAAAAAAAA T	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM228B_chr2_24118469_24174638	24166054	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0018 a0002c0007t0001g0018	1	6	0.1667	27	c.933 others(44): Show c.933-1572_933-1571insATATATATATATATATATATATATATA	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM236A_chrX_72933206_72943958	72943790	G G	GAGGAGGA others(20): Show GAGGAGGAGGAGCAGGAGGAGGAGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19080.hp1 NA19077.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	153	0.0131	27	c.49 others(38): Show c.4957_*4958insAGGAGGAGGAGCAGGAGGAGGAGGAGC	FAM236A	ENSG00000275520.2	transcript	ENST00000611003.2	protein_coding		4833		chrX	TogoVar
FAM236B_chrX_72776865_72787660	72776950	T T	TTCCTCCT others(20): Show TTCCTCCTCCTCCTCCTCCTCCTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	57	0.0175	27	c.50 others(38): Show c.5013_*5039dupGGAGGAGGAGGAGGAGGAGGAGGAGGA	FAM236B	ENSG00000268994.3	transcript	ENST00000596535.3	protein_coding		4914		chrX	TogoVar
FAM236B_chrX_72776865_72787660	72777006	C C	CCTCCTCC others(20): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	108	0.0093	27	c.49 others(38): Show c.4983_*4984insCAGGAGGAGGAGGAGGAGGAGGAGGAG	FAM236B	ENSG00000268994.3	transcript	ENST00000596535.3	protein_coding		4858		chrX	TogoVar
FAM236B_chrX_72776865_72787660	72777021	C C	CCTCCTCC others(20): Show CCTCCTCCTCCTGCTCCTCCTCCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG03704.hp1 HG00140.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	88	0.0227	27	c.49 others(38): Show c.4968_*4969insCAGGAGGAGGAGGAGCAGGAGGAGGAG	FAM236B	ENSG00000268994.3	transcript	ENST00000596535.3	protein_coding		4843		chrX	TogoVar
FAM240C_chr2_241888988_241905464	241896503	G G	GGGGTGTG others(20): Show GGGGTGTGGGTGAAGGGGTGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	29	0.0345	27	c.161 others(42): Show c.161+682_161+683insAACACCCACACCCCTTCACCCACACCC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FAM241B_chr10_69625247_69638596	69627121	C C	CACCACCA others(20): Show CACCACCACTACTATTACTACTACTACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03130.hp2 HG03225.hp2 others(1): Show HG01891.hp2 HG03130.hp2 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	4	65	0.0615	27	c.-32 others(38): Show c.-3296_-3295insACCACCACTACTATTACTACTACTACT	FAM241B	ENSG00000171224.9	transcript	ENST00000373279.6	protein_coding		3125		chr10	TogoVar
FAM3A_chrX_154501171_154521232	154519971	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	336	0.0030	27	c.-42 others(38): Show c.-4200_-4199insTATATATATATATATATATATATATAT	FAM3A	ENSG00000071889.17	transcript	ENST00000447601.7	protein_coding		3740		chrX	TogoVar
FAM3D_chr3_58628946_58671774	58637878	G G	GATTATTA others(20): Show GATTATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0004 a0005c0010t0004	a0005c0010t0004g0173 a0005c0010t0004g0173	1	5	0.2000	27	c.374 others(42): Show c.374-654_374-653insAATAATAATAATAATAATAATAATAAT	FAM3D	ENSG00000198643.7	transcript	ENST00000358781.7	protein_coding	7/9			chr3	TogoVar
FAM43B_chr1_20547573_20560020	20550649	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	12	0.0833	27	c.-23 others(38): Show c.-2325_-2324insAAAAAAAAAAAAAAAAAAAAAAAAAAA	FAM43B	ENSG00000183114.8	transcript	ENST00000332947.6	protein_coding		1923		chr1	TogoVar
FAM53A_chr4_1634887_1689313	1666213	C C	CACCTGCA others(20): Show CACCTGCACACCCTGTATCTAAAATAAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0042 a0001c0001t0010g0042	1	348	0.0029	27	c.75+ others(42): Show c.75+2453_75+2454insTTTATTTTAGATACAGGGTGTGCAGGT	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	2/4			chr4	TogoVar
FAN1_chr15_30898915_30948108	30929739	T T	TCATATAT others(20): Show TCATATATAATATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01099.hp1 others(35): Show HG00280.hp2 HG00733.hp2 HG01099.hp1 HG01109.hp2 HG01257.hp1 HG01258.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03704.hp2 NA18906.hp1 NA18906.hp2 NA18964.hp1 NA18972.hp1 NA18981.hp1 NA18989.hp2 NA18999.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp2 NA19077.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0005 a0005c0008 a0001c0001 a0003c0005 a0005c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0003c0005t0004 a0003c0005t0006 a0005c0008t0004	a0001c0001t0002g0014 a0001c0001t0002g0106 a0001c0001t0004g0013 others(26): Show a0001c0001t0002g0014 a0001c0001t0002g0106 a0001c0001t0004g0013 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0078 a0001c0001t0004g0080 a0001c0001t0004g0084 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0005g0005 a0001c0001t0005g0085 a0001c0001t0006g0077 a0001c0001t0006g0086 a0001c0001t0017g0083 a0003c0005t0004g0009 a0003c0005t0004g0099 a0003c0005t0004g0101 a0003c0005t0006g0100 a0005c0008t0004g0081 a0005c0008t0004g0082	38	292	0.1301	27	c.278 others(44): Show c.2787+342_2787+343insCATATATAATATATATAAAATATATAA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14			chr15	TogoVar
FAN1_chr15_30898915_30948108	30929779	T T	TCATATAT others(20): Show TCATATATAATATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01070.hp1 others(25): Show HG00544.hp1 HG00609.hp2 HG01070.hp1 HG01258.hp2 HG02004.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02300.hp2 HG02735.hp2 HG03688.hp2 HG03927.hp2 HG06807.hp1 NA18747.hp2 NA18973.hp2 NA18979.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA19000.hp1 NA19006.hp2 NA19030.hp1 NA19075.hp2 NA19081.hp2 NA19083.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0002 a0001c0001t0006 a0001c0001t0016	a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0029 others(21): Show a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0006g0189 a0001c0001t0016g0028	28	289	0.0969	27	c.278 others(44): Show c.2787+382_2787+383insCATATATAATATATATAAAATATATAA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14			chr15	TogoVar
FAN1_chr15_30898915_30948108	30929779	T T	TCATATAT others(20): Show TCATATATAGTATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	262	0.0038	27	c.278 others(44): Show c.2787+382_2787+383insCATATATAGTATATATAAAATATATAA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14			chr15	TogoVar
FAN1_chr15_30898915_30948108	30929819	T T	TCATATAT others(20): Show TCATATATAATATATAAAATATATAATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG06807.hp1 others(2): Show HG01515.hp2 HG01517.hp2 HG06807.hp1 NA18989.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0004c0009t0005	a0001c0001t0005g0085 a0001c0001t0006g0189 a0001c0001t0017g0083 others(1): Show a0001c0001t0005g0085 a0001c0001t0006g0189 a0001c0001t0017g0083 a0004c0009t0005g0005	5	270	0.0185	27	c.278 others(44): Show c.2787+422_2787+423insCATATATAATATATAAAATATATAATA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14			chr15	TogoVar
FANCA_chr16_89732549_89821647	89771155	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0309 a0006c0007t0004g0309	1	272	0.0037	27	c.215 others(44): Show c.2151+522_2152-521insTTTTTTTTTTTTTTTTTTTTTTTTTTT	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	23/42			chr16	TogoVar
FANCC_chr9_95094054_95322709	95271927	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	92	0.0109	27	c.-78 others(46): Show c.-78-22585_-78-22559dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	1/14			chr9	TogoVar
FANCD2_chr3_10021437_10106932	10036086	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0230	1	137	0.0073	27	c.439 others(42): Show c.439-182_439-181insTTTTTTTTTTTTTTTTTTTTTTTTTTT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	6/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FANK1_chr10_125891564_126014592	125918585	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	241	0.0041	27	c.13+ others(44): Show c.13+21930_13+21931insTATATATATATATATATATATATATAT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10			chr10	TogoVar
FANK1_chr10_125891564_126014592	125919195	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp2 NA19007.hp2 HG02622.hp1 HG03486.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0157 a0001c0001t0001g0211 a0001c0001t0001g0121 a0001c0001t0001g0157 a0001c0001t0001g0211	3	30	0.1000	27	c.13+ others(44): Show c.13+22542_13+22568dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar

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