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
SPAG16_chr2_213279464_214415501	213980268	TTCTCTAT others(177): Show TTCTCTATATATATAGAATATATGTGTGTATATATATTCTCTATATATAT AGAATATATGTGTGTATATATATTCTCTATATATATAGAATATATGTGTG TATATATATTCTCTATATATATAGAATATATGTGTGTATATATATTCTAT ATATATATAGAATATATGTGTGTATATATATTCTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp2 HG01361.hp2 others(6): Show HG00735.hp2 HG01256.hp2 HG01361.hp2 HG02559.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03831.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008	9	67	0.1343	-184	c.140 others(21): Show c.1401-33681_1401-33498del	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPPL2B_chr19_2323684_2360095	2349044	CGCGCTCT others(177): Show CGCGCTCTCATTCGCTTGATTCCGTTCTCTCCCTCCACACACACTCGCGT TCTCATTCGCTTGATTCCATTCTCTCCCTCCACACACACTCGCGTTCTCA TTCGCTTGATTCCATTCTCTCCCTCCACACACACTCACGCGCTGTCATTC GCTTGATTCCGTTCTCTCTCTCCACACACACTCGT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	2	412	0.0049	-184	c.135 others(19): Show c.1355-2388_1355-2205del	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
STK38L_chr12_27239286_27330959	27241378	ATATATAT others(177): Show ATATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGA CTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATA TTACATATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTA TAGTTATATATATTACATATATGACTCTGTATAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00609.hp1 NA18946.hp2 others(2): Show HG00438.hp1 HG00609.hp1 NA18946.hp2 NA18969.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 others(2): Show a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0312	5	371	0.0135	-184	c.-29 others(11): Show c.-2965_-2782del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2907		chr12	TogoVar
TENM2_chr5_166974029_168269157	167974090	GGAAGGAA others(177): Show GGAAGGAAGGAAGGGAGGAAAGGAGGGAGGAAGGAAGGAAGGAAGGAAGG AAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAGGA AGGAAGGGAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAG GAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0026 a0002c0020t0026	a0002c0020t0026g0013 a0002c0020t0026g0013	1	54	0.0185	-184	c.948 others(19): Show c.948-18853_948-18670del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30			chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121785466	GCCCAGGC others(177): Show GCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGTAAGCTACGCC TCCTGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACT ACAGGCAGGTGCCACCATGCCTGGCTAATTTTTTTTGTATTTTTATTATT TTATTTTATTTTTGAGACGGAGTCTCACTCTGTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG03654.hp1 HG02738.hp2 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0053 a0002c0002t0056 a0001c0001t0053 a0002c0002t0056	a0001c0001t0053g0095 a0002c0002t0056g0183 a0001c0001t0053g0095 a0002c0002t0056g0183	2	312	0.0064	-184	c.97 others(11): Show c.9745_*9928del	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding		3399		chr12	TogoVar
TRIM46_chr1_155168849_155189970	155189034	GGCGGTGG others(177): Show GGCGGTGGAGCCCGGAGCCGGTCTGTTGTCCGGGGCCGAGGTGACACCGT GTGCTGGAGTGTCGGTGGAGCCCGAGGCCGGCCTGGTGTCCGGGGCCGAG GTGACACTGTGAGCTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTG CTCTCTGTTTTAAATATACACCGTGGGCTGCGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03490.hp2 HG03492.hp2 others(6): Show HG03041.hp1 HG03490.hp2 HG03492.hp2 NA18969.hp1 NA18970.hp1 NA18981.hp2 NA19059.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0012	9	345	0.0261	-184	c.48 others(11): Show c.4845_*5028del	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4065		chr1	TogoVar
VGLL4_chr3_11551069_11648915	11605050	GCCCACCC others(177): Show GCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCC CCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATC TTCCAAAGCGCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGT GAATTCCATCTTCCAAAGCGCCCCCACGCCCACCC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG01943.hp1 others(8): Show HG01109.hp1 HG01891.hp1 HG01943.hp1 HG02486.hp2 HG02559.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03471.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0014 a0001c0001t0025 others(2): Show a0001c0001t0011 a0001c0001t0014 a0001c0001t0025 a0001c0002t0002 a0001c0002t0004	a0001c0001t0011g0289 a0001c0001t0011g0290 a0001c0001t0014g0100 others(8): Show a0001c0001t0011g0289 a0001c0001t0011g0290 a0001c0001t0014g0100 a0001c0001t0025g0099 a0001c0002t0002g0211 a0001c0002t0004g0203 a0001c0002t0004g0204 a0001c0002t0004g0206 a0001c0002t0004g0208 a0001c0002t0004g0209 a0001c0002t0004g0210	11	354	0.0311	-184	c.83- others(15): Show c.83-3212_83-3029del	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VPS53_chr17_503668_719839	513592	GGCAGGTT others(177): Show GGCAGGTTGTTCTGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCA GGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTT ATTCCGAGTGCTCTTCCTAGGGAAGGAATCTCATTTCCAGCAGGTTATTC CGAGTGCTCTTCCTAGGGAAGGAATCCCATTTCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0084 a0001c0002t0058g0084	1	230	0.0043	-184	c.53 others(11): Show c.5352_*5535del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	5352		chr17	TogoVar
VPS53_chr17_503668_719839	513712	GGAAGGAA others(177): Show GGAAGGAATCTCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAA GGAATCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAA TCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCC ATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG01515.hp2 others(21): Show HG00099.hp2 HG00438.hp2 HG01515.hp2 HG01981.hp2 HG02074.hp1 HG02572.hp2 HG03139.hp1 HG03491.hp1 HG03492.hp1 NA18612.hp2 NA18944.hp2 NA18950.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA19011.hp2 NA19064.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0004 a0004c0008	a0001c0001t0098 a0001c0001t0099 a0001c0002t0097 others(11): Show a0001c0001t0098 a0001c0001t0099 a0001c0002t0097 a0001c0006t0022 a0001c0006t0041 a0001c0006t0042 a0001c0006t0057 a0002c0003t0096 a0003c0004t0004 a0003c0004t0006 a0003c0004t0062 a0003c0004t0064 a0003c0004t0066 a0004c0008t0100	a0001c0001t0098g0200 a0001c0001t0099g0220 a0001c0002t0097g0223 others(21): Show a0001c0001t0098g0200 a0001c0001t0099g0220 a0001c0002t0097g0223 a0001c0006t0022g0100 a0001c0006t0022g0101 a0001c0006t0041g0003 a0001c0006t0042g0002 a0001c0006t0057g0102 a0002c0003t0096g0192 a0003c0004t0004g0014 a0003c0004t0004g0019 a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0004g0026 a0003c0004t0004g0040 a0003c0004t0006g0016 a0003c0004t0006g0022 a0003c0004t0006g0023 a0003c0004t0006g0024 a0003c0004t0006g0033 a0003c0004t0062g0030 a0003c0004t0064g0031 a0003c0004t0066g0034 a0004c0008t0100g0227	24	230	0.1043	-184	c.52 others(11): Show c.5232_*5415del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	5232		chr17	TogoVar
VPS53_chr17_503668_719839	513814	CCATTTCC others(177): Show CCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCAT TTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCTCATTTCC AGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCA GGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 NA18747.hp1 NA18960.hp2 others(3): Show HG02602.hp1 NA18747.hp1 NA18960.hp2 NA18994.hp2 NA19009.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0010 a0001c0005t0010 a0001c0005t0046 others(2): Show a0001c0002t0010 a0001c0005t0010 a0001c0005t0046 a0001c0005t0049 a0001c0005t0050	a0001c0002t0010g0057 a0001c0005t0010g0007 a0001c0005t0010g0008 others(3): Show a0001c0002t0010g0057 a0001c0005t0010g0007 a0001c0005t0010g0008 a0001c0005t0046g0096 a0001c0005t0049g0010 a0001c0005t0050g0011	6	225	0.0267	-184	c.51 others(11): Show c.5130_*5313del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	5130		chr17	TogoVar
VPS53_chr17_503668_719839	658460	AACTTGGC others(177): Show AACTTGGCCGTGAGTTCGTGGATAGATACATCCCACTGAAGTGAGAAACT CGGCAGGGAGTTCGTGGATAGATACATCCCACCAAAGTGAGAAACTTGGC CGTGAGTTCTTGGATAGATACATCGCACTAAAGTGAGAAACTCGGCAGGG AGTTCGTGGGTAGATACATCCCACTAAAGTGAGAT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0016 a0003c0004t0006g0016	1	230	0.0043	-184	c.373 others(17): Show c.373-2691_373-2508del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	5/21			chr17	TogoVar
XXYLT1_chr3_195063284_195276159	195109867	GTGTATGT others(177): Show GTGTATGTGTGCATGTGTGTGGGTGAGGTGTGGGTGTGTGTGGTGTGTGT GGGGGTATATGTGTGTGTGGTATATGAGTGTGCGTGCATGTGTGTGTGTT GTGTGTATGTGTGTGGGTGGGGGTGTGTGCATGGTGTGTGGTTGTGTGTG GCATGAGTGTGCATGTCTGGTGTATGTGTGCGTGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG01261.hp2 others(22): Show HG00408.hp1 HG00544.hp1 HG01261.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02280.hp1 HG02559.hp1 HG02630.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03540.hp2 HG04204.hp2 NA18944.hp1 NA19056.hp2 NA19085.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0025 a0001c0001t0028 a0001c0003t0015 a0002c0002t0004	a0001c0001t0001g0024 a0001c0001t0001g0167 a0001c0001t0002g0080 others(22): Show a0001c0001t0001g0024 a0001c0001t0001g0167 a0001c0001t0002g0080 a0001c0001t0002g0120 a0001c0001t0002g0139 a0001c0001t0002g0169 a0001c0001t0003g0014 a0001c0001t0003g0111 a0001c0001t0003g0191 a0001c0001t0005g0006 a0001c0001t0005g0059 a0001c0001t0005g0123 a0001c0001t0006g0117 a0001c0001t0007g0105 a0001c0001t0009g0121 a0001c0001t0009g0165 a0001c0001t0010g0052 a0001c0001t0010g0086 a0001c0001t0010g0102 a0001c0001t0014g0071 a0001c0001t0025g0133 a0001c0001t0028g0057 a0001c0003t0015g0082 a0002c0002t0004g0007 a0002c0002t0004g0150	25	143	0.1748	-184	c.786 others(19): Show c.786-39940_786-39757del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
ZC3H3_chr8_143432659_143546447	143486847	GCCCCACC others(177): Show GCCCCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCC CACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCACC ACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCACCA CGAAGCTCACACACAGAACAGCACCCGCTACACGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00621.hp1 others(7): Show HG00140.hp2 HG00280.hp1 HG00621.hp1 HG01516.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp2 HG02132.hp1 HG02683.hp1 NA18982.hp1	a0002 a0010 a0023 a0002 a0010 a0023	a0002c0002 a0010c0012 a0023c0053 a0002c0002 a0010c0012 a0023c0053	a0002c0002t0001 a0002c0002t0002 a0010c0012t0002 others(1): Show a0002c0002t0001 a0002c0002t0002 a0010c0012t0002 a0023c0053t0001	a0002c0002t0001g0004 a0002c0002t0001g0292 a0002c0002t0001g0319 others(6): Show a0002c0002t0001g0004 a0002c0002t0001g0292 a0002c0002t0001g0319 a0002c0002t0001g0329 a0002c0002t0002g0310 a0010c0012t0002g0306 a0010c0012t0002g0308 a0010c0012t0002g0316 a0023c0053t0001g0315	10	304	0.0329	-184	c.171 others(21): Show c.1716-11446_1716-11263del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143488110	CACACAGA others(177): Show CACACAGAACAGCACCCGCTCCACGACCCCATCACCACGAAGCTCACACA CAGAACAGCACCCGCTCCACGACCCCATCACCACGAAGCTCACACACAGA ACAGCACCCGCTACACAGCCCCATCACCACGAAGCTCAGACACAGAACAG CACCCGCTACACGGCCCCATCACCACGAAGCTCAG	C C	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0250 a0004c0004t0001g0250	1	308	0.0032	-184	c.171 others(21): Show c.1716-12709_1716-12526del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZMYND8_chr20_47204214_47361699	47255522	CATATGGT others(177): Show CATATGGTGGATATATATACACACCATATACATATACTCAGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATACACACCATATA CATATACTCAGTATATATATACCATATACATATACTCAGTATATGTATAT GGTGTATGTGTGTGTGTGTATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	206	0.0049	-184	c.162 others(19): Show c.1622-6267_1622-6084del	ZMYND8	ENSG00000101040.20	transcript	ENST00000471951.7	protein_coding	12/22			chr20	TogoVar
ZNF516_chr18_76352682_76500242	76394500	GGGTGGTC others(177): Show GGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02300.hp1 HG03209.hp2 others(1): Show HG00735.hp2 HG02300.hp1 HG03209.hp2 HG03239.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0041 a0001c0001 a0001c0002 a0006c0041	a0001c0001t0001 a0001c0001t0126 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0126 a0001c0002t0003 a0006c0041t0137	a0001c0001t0001g0099 a0001c0001t0126g0090 a0001c0002t0003g0155 others(1): Show a0001c0001t0001g0099 a0001c0001t0126g0090 a0001c0002t0003g0155 a0006c0041t0137g0131	4	249	0.0161	-184	c.181 others(21): Show c.1811-14381_1811-14198del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394546	AGGTGGTC others(177): Show AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0024 a0003c0007t0024	a0003c0007t0024g0339 a0003c0007t0024g0339	1	340	0.0029	-184	c.181 others(21): Show c.1811-14427_1811-14244del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394569	GGGTGGTC others(177): Show GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03041.hp2 HG03579.hp1 others(2): Show HG00609.hp1 HG03041.hp2 HG03579.hp1 HG04204.hp2 NA18961.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0016 a0002c0009 a0001c0001 a0001c0016 a0002c0009	a0001c0001t0007 a0001c0001t0009 a0001c0001t0107 others(2): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0107 a0001c0016t0031 a0002c0009t0023	a0001c0001t0007g0202 a0001c0001t0009g0274 a0001c0001t0107g0176 others(2): Show a0001c0001t0007g0202 a0001c0001t0009g0274 a0001c0001t0107g0176 a0001c0016t0031g0132 a0002c0009t0023g0016	5	324	0.0154	-184	c.181 others(21): Show c.1811-14450_1811-14267del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADAMTS17_chr15_99966437_100346975	100162433	TATATACA others(176): Show TATATACACATATAGTTATATATATGCACATATACACATTATATGTGTAT ATATATGCACATATACACATTATATGTGTATATATATGCACATATACACA TTATATGTGTATATATATGCACATATACACATTATATGTGTATATATATG CACATATACACATTATATGTGTATATATATGCAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0016 a0002c0001t0016	a0002c0001t0016g0205 a0002c0001t0016g0205	1	219	0.0046	-183	c.118 others(19): Show c.1182-7296_1182-7114del	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21			chr15	TogoVar
AGBL1_chr15_86074871_86921156	86397143	CTACGGTT others(176): Show CTACGGTTTTTTAGATTCTGTATGAGTAAGATCGTATCCCATGAGAAAAA GAGAATACAAGATAAACTGAAAACATTGAAGGAAACAAAATTCAAAACCT ACAATGGAAAATGTATTTTTAATAAAAATTAGTATCAAAGAAGCAAAAAA GAAGTTTAGAAAACTATAAAATAGAGCAATATTA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0125 a0001c0003t0008g0125	1	132	0.0076	-183	c.237 others(16): Show c.2375-222_2375-40del	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22			chr15	TogoVar
AGRN_chr1_1015120_1061116	1028630	CAAGGAAC others(176): Show CAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGCCCACAGCCACG CCACCCTCTCCCAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGC CCACACCCACGCCACCCTCTCCGAAGGAACCGAGCCCCAGCCCCTCGTGG GCCAAGGGCGCCCACACCCACGCCACCCTTTCCG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03486.hp2 HG02922.hp1 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0047 a0003c0057 a0001c0047 a0003c0057	a0001c0047t0001 a0003c0057t0003 a0001c0047t0001 a0003c0057t0003	a0001c0047t0001g0063 a0003c0057t0003g0048 a0001c0047t0001g0063 a0003c0057t0003g0048	2	208	0.0096	-183	c.463 others(17): Show c.463+6225_463+6407del	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1028691	CAAGGAAC others(176): Show CAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGCCCACACCCACG CCACCCTCTCCGAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGC CCACACCCACGCCACCCTTTCCGAAGGAACCGAGCCCCAGCCCCTCGTGG GCCAAGGGCGCCCACAGCCACGCCACCCTTTCCG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01496.hp2 others(3): Show HG01081.hp1 HG01123.hp2 HG01496.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0044 a0001c0001 a0001c0044	a0001c0001t0001 a0001c0044t0001 a0001c0001t0001 a0001c0044t0001	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0072 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0044t0001g0012	6	193	0.0311	-183	c.463 others(17): Show c.463+6286_464-6347del	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
ANKRD11_chr16_89262630_89495561	89290222	ATGGGGGA others(176): Show ATGGGGGAGGCTCAGGGCTCCAGCGGGGGGTAGGCTCAGGGCTCCAATGG GGGTAGGCTCAGGGCTCCAGCCGGGGGAGGCTCAGGGCTCCAATGGGGGG AGGCTCAGGGCTCCAGCGGGGGAGGCTCAGGGCTCCAATGGGGGGAGGCT CAGGGCTCCAGCGGGGGAGGCTCAGGGCTCCAAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03225.hp1 HG03453.hp1 HG02886.hp1 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016	3	308	0.0097	-183	c.601 others(15): Show c.601+220_601+402del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	6/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89412096	CTACTGGG others(176): Show CTACTGGGCTGAGATGCCTCCCAGAGTCTCCTGGCCGTGCCCCATCCCTC CCCTCAGCCAGGTACTGGGCTGAGATGCCTCCCAGAGTCTCCTGGCCGTG CCCCATCCCTCCCCTCAGCCAGGTACTGGGCTGAGATGCCTCCCAGAGTC TCCTGGCCGTGCCCCATCCCTCCCCTCAGCCAGG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0165 a0002c0002t0002g0165	1	303	0.0033	-183	c.-60 others(17): Show c.-60+6005_-60+6187del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
APOA4_chr11_116815700_116828304	116818433	TGAATTTA others(176): Show TGAATTTATATATGAATATATATATGAATATATATGAATTTATATATGAA TTATATATGAATATATATGAATATATATGAATATATATATGAATTATATA TGAATATATATGAATATATATATGAATTATATATGAATATATATATGAAT TATATATGAATATATATGTGTGTGTGTATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	1	459	0.0022	-183	c.22 others(11): Show c.2251_*2433del	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2266		chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362479	TATATATA others(176): Show TATATATAATATATATTATATAAAATATATAACATATATTATTTATATAA TATATATTATATAAAATATATAACATATATTATTTATATAATATATATTA TATAAAATATATAATATATATTATATAAAATATATATTATATATTATATA AAATATATATAATATATAATATATATTATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0357 a0001c0001t0005g0357	1	368	0.0027	-183	c.491 others(17): Show c.491+5366_491+5548del	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP9B_chr18_79064394_79383283	79276594	CTTTGGTA others(176): Show CTTTGGTAGTTGTCCCTTGCGGGCATATACGGGCACACTCACAACAGTCT GTTTTTCTGTCCCATCTGGTGTTACAGACTGTCTTGAAGGACAGAATAGG AGTTACCTATTTTTCTGTCACCTACAAATATTATCTTGGGTGTAAACATG TTTGTTGACTTAAATGTCAGTAAATACATTTATT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0188 a0002c0005t0001g0188	1	296	0.0034	-183	c.126 others(17): Show c.1269-457_1269-275del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82976741	AGAGGCCA others(176): Show AGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCC TCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCC GAACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCC GGGACAGAGCCGGATTCCATCCTCCCAGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG00639.hp2 others(56): Show HG00423.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01346.hp2 HG01981.hp1 HG02027.hp1 HG02132.hp1 HG02165.hp1 HG02572.hp1 HG02683.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18980.hp2 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0014 a0002c0005 a0002c0015 a0002c0027	a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 others(24): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0001t0037 a0001c0002t0002 a0001c0003t0015 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0006 a0001c0006t0023 a0001c0006t0033 a0001c0007t0001 a0001c0007t0004 a0001c0007t0005 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0012t0001 a0001c0012t0002 a0001c0014t0018 a0002c0005t0007 a0002c0015t0003 a0002c0027t0003	a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0010g0184 others(53): Show a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0010g0184 a0001c0001t0011g0068 a0001c0001t0022g0243 a0001c0001t0037g0257 a0001c0002t0002g0104 a0001c0003t0015g0223 a0001c0004t0001g0002 a0001c0004t0001g0022 a0001c0004t0001g0027 a0001c0004t0001g0029 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0040 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0002g0051 a0001c0004t0010g0035 a0001c0004t0026g0048 a0001c0004t0031g0036 a0001c0006t0006g0039 a0001c0006t0023g0031 a0001c0006t0033g0046 a0001c0007t0001g0003 a0001c0007t0001g0150 a0001c0007t0001g0151 a0001c0007t0004g0244 a0001c0007t0004g0245 a0001c0007t0005g0226 a0001c0007t0005g0227 a0001c0007t0005g0228 a0001c0007t0005g0232 a0001c0007t0005g0236 a0001c0007t0005g0242 a0001c0007t0005g0253 a0001c0008t0005g0190 a0001c0008t0005g0191 a0001c0008t0005g0204 a0001c0008t0014g0198 a0001c0008t0014g0215 a0001c0008t0021g0216 a0001c0012t0001g0081 a0001c0012t0001g0101 a0001c0012t0001g0125 a0001c0012t0002g0080 a0001c0014t0018g0050 a0002c0005t0007g0006 a0002c0015t0003g0024 a0002c0015t0003g0045 a0002c0027t0003g0114	59	266	0.2218	-183	c.460 others(19): Show c.460-11178_460-10996del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BCL11A_chr2_60452194_60558654	60467366	GTGGTGAT others(176): Show GTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGATGGTACT GGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGA TGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATGGTA CTGGTGGTGATGGTGATGGTGATGGTACTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18970.hp1 NA18974.hp1 HG02074.hp2 NA18970.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0043 a0001c0001t0044 a0001c0003t0009 a0001c0001t0043 a0001c0001t0044 a0001c0003t0009	a0001c0001t0043g0108 a0001c0001t0044g0104 a0001c0003t0009g0198 a0001c0001t0043g0108 a0001c0001t0044g0104 a0001c0003t0009g0198	3	256	0.0117	-183	c.487 others(17): Show c.487+1183_487+1365del	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
C12orf56_chr12_64259762_64395758	64366318	TTATTATA others(176): Show TTATTATATATTATATACAGTTTATATATTATATATTATATACAGTTTAT ATATATTATATATAACATACAGTTTATATATATTATATATAACATACAGT TTATATATATTATATATAACATACAGTTTATATATATTATATATAACATA CAGTTTATATATATTATATATAACATACAGTTTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0064 a0002c0002t0003g0064	1	75	0.0133	-183	c.253 others(19): Show c.253-13445_253-13263del	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
CAMK2B_chr7_44212154_44330594	44227435	GGGGGTGT others(176): Show GGGGGTGTGGAAGACAGAGGAAGTGTGGGGGACAGAAGGGGGTATGGGGG GCAGGGGGTGGAGGACAGAGGAGGGTGTGGGGGACAGAGGGGGATATGGG GGACAGAGGGAGTGTAGGGGACAGAGGAGGGTCTGGGGGGCAGAGGGAGA GTGTGGGGGACAGGGGGTGTGGGGGACAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0085 a0001c0007t0004g0085	1	238	0.0042	-183	c.146 others(17): Show c.1469-974_1469-792del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CANT1_chr17_78986716_79014764	79004826	AGGGGAGT others(176): Show AGGGGAGTTAGGGAGAGGGGATTTAGGGAGGGGGGAGTTAGGGAGAGGAG TTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGCTGGGGG GGAGTTATGGAGCAAGGAGTTAGGGAGGGGGGAGTTAGGGAGATGGGAGT TAGGGAGAGGGGGGTTAGGGAGAGGGGAGTTAGG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02071.hp2 HG02615.hp2 others(4): Show HG00673.hp2 HG02071.hp2 HG02615.hp2 NA18946.hp2 NA18978.hp1 NA19005.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0178 a0001c0002t0003g0193 a0001c0002t0008g0222 others(4): Show a0001c0002t0003g0178 a0001c0002t0003g0193 a0001c0002t0008g0222 a0001c0002t0008g0223 a0001c0002t0008g0224 a0001c0002t0008g0226 a0001c0002t0008g0227	7	383	0.0183	-183	c.-14 others(19): Show c.-147+4655_-147+4837del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CCDC126_chr7_23592382_23649708	23637640	CGTCCGGG others(176): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCC GTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCAGCCGCCCAGTCCGGGAG GGAGGCGGGGAGGGGGGGGTCGGCCAGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	378	0.0026	-183	c.239 others(17): Show c.239-5253_239-5071del	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC38_chr12_95862048_95947614	95908498	AGAGGGAG others(176): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGAGAGGGAGA GGGAGAGGGAGGAGAGGGAGAGGGAGAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0246 a0003c0013t0002g0246	1	331	0.0030	-183	c.305 others(17): Show c.305-2230_305-2048del	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CDH5_chr16_66361691_66409784	66379946	ATGGTGGT others(176): Show ATGGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACGGTGATGGT GGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCATGGTGATGGTGGTGA TGATAAAGGGGTAGGTGTTGGTGGTGATCACGGTGATGGTGGTGATGATA AAGGGGTAGGTGGTGGTGGTGATCATGGTGATGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	402	0.0025	-183	c.210 others(15): Show c.210+405_210+587del	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSF2RA_chrX_1263814_1314935	1271213	AGTGGCGC others(176): Show AGTGGCGCGATCTCTGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCAA TTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACC ACGCCCGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTGGAGAC AGCGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(91): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18982.hp1 NA18998.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19063.hp1 NA19064.hp2 NA19080.hp2 NA19081.hp2 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0007 others(11): Show a0001c0001 a0001c0002 a0001c0007 a0001c0012 a0001c0013 a0002c0003 a0002c0004 a0002c0006 a0002c0011 a0003c0009 a0003c0018 a0004c0010 a0005c0008 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0007t0002 a0001c0012t0005 a0001c0013t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0004t0003 a0002c0004t0005 a0002c0004t0007 a0002c0006t0002 a0002c0006t0003 a0002c0006t0005 a0002c0011t0004 a0003c0009t0002 a0003c0018t0005 a0004c0010t0003 a0005c0008t0001 a0005c0008t0007 a0006c0015t0001	a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0066 others(91): Show a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0002g0050 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0118 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0114 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0125 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0004g0065 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0095 a0001c0001t0004g0109 a0001c0001t0004g0115 a0001c0001t0004g0155 a0001c0001t0008g0121 a0001c0001t0011g0062 a0001c0001t0014g0027 a0001c0002t0001g0077 a0001c0002t0001g0104 a0001c0002t0003g0080 a0001c0002t0003g0112 a0001c0002t0003g0120 a0001c0002t0003g0123 a0001c0002t0003g0154 a0001c0002t0004g0063 a0001c0002t0004g0083 a0001c0002t0004g0099 a0001c0002t0004g0111 a0001c0002t0004g0133 a0001c0002t0005g0124 a0001c0002t0005g0135 a0001c0002t0005g0136 a0001c0002t0008g0082 a0001c0007t0002g0130 a0001c0012t0005g0151 a0001c0013t0003g0081 a0002c0003t0001g0145 a0002c0003t0001g0148 a0002c0003t0002g0030 a0002c0003t0002g0141 a0002c0003t0002g0142 a0002c0003t0002g0146 a0002c0003t0002g0150 a0002c0003t0002g0158 a0002c0003t0004g0088 a0002c0003t0004g0132 a0002c0003t0005g0147 a0002c0004t0003g0110 a0002c0004t0005g0126 a0002c0004t0005g0128 a0002c0004t0005g0131 a0002c0004t0007g0153 a0002c0006t0002g0127 a0002c0006t0003g0157 a0002c0006t0005g0028 a0002c0011t0004g0074 a0003c0009t0002g0105 a0003c0009t0002g0143 a0003c0018t0005g0129 a0004c0010t0003g0159 a0005c0008t0001g0139 a0005c0008t0007g0140 a0006c0015t0001g0144	94	157	0.5987	-183	c.-91 others(17): Show c.-91+2335_-91+2517del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12			chrX	TogoVar
DACT2_chr6_168301904_168324777	168317469	TGTGTGTA others(176): Show TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGCAAACACACAAC AGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTG TCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTGTGGTGCAA ACACACAACAGCATCTCGGCAGCACCTCCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0008 a0006c0014t0008	a0006c0014t0008g0300 a0006c0014t0008g0300	1	464	0.0022	-183	c.246 others(17): Show c.246+1736_246+1918del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DOCK8_chr9_209865_470255	320859	TCAGAGAT others(176): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01891.hp1 others(11): Show HG00639.hp2 HG01109.hp2 HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03453.hp2 NA21309.hp1	a0013 a0015 a0020 others(9): Show a0013 a0015 a0020 a0024 a0028 a0030 a0034 a0036 a0041 a0043 a0045 a0046	a0013c0094 a0013c0095 a0015c0064 others(11): Show a0013c0094 a0013c0095 a0015c0064 a0020c0150 a0020c0152 a0024c0162 a0028c0151 a0030c0089 a0034c0091 a0036c0139 a0041c0149 a0043c0088 a0045c0044 a0046c0153	a0013c0094t0001 a0013c0095t0001 a0015c0064t0001 others(11): Show a0013c0094t0001 a0013c0095t0001 a0015c0064t0001 a0020c0150t0001 a0020c0152t0001 a0024c0162t0001 a0028c0151t0003 a0030c0089t0003 a0034c0091t0003 a0036c0139t0003 a0041c0149t0010 a0043c0088t0001 a0045c0044t0003 a0046c0153t0001	a0013c0094t0001g0009 a0013c0095t0001g0095 a0015c0064t0001g0165 others(11): Show a0013c0094t0001g0009 a0013c0095t0001g0095 a0015c0064t0001g0165 a0020c0150t0001g0179 a0020c0152t0001g0175 a0024c0162t0001g0014 a0028c0151t0003g0174 a0030c0089t0003g0003 a0034c0091t0003g0019 a0036c0139t0003g0177 a0041c0149t0010g0071 a0043c0088t0001g0083 a0045c0044t0003g0004 a0046c0153t0001g0171	14	230	0.0609	-183	c.827 others(17): Show c.827+3792_827+3974del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	322079	TCAGAGAT others(176): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG01433.hp1 others(28): Show HG01099.hp1 HG01109.hp2 HG01433.hp1 HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03669.hp1 NA18522.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(20): Show a0001 a0002 a0004 a0008 a0011 a0013 a0015 a0020 a0022 a0024 a0030 a0034 a0036 a0037 a0039 a0041 a0042 a0043 a0044 a0045 a0046 a0053 a0060	a0001c0032 a0001c0045 a0002c0078 others(28): Show a0001c0032 a0001c0045 a0002c0078 a0002c0100 a0002c0107 a0002c0111 a0004c0038 a0008c0084 a0011c0148 a0013c0094 a0013c0095 a0015c0033 a0015c0064 a0020c0150 a0020c0152 a0022c0086 a0022c0087 a0024c0162 a0030c0089 a0034c0091 a0036c0139 a0037c0037 a0039c0090 a0041c0149 a0042c0036 a0043c0088 a0044c0132 a0045c0044 a0046c0153 a0053c0083 a0060c0131	a0001c0032t0004 a0001c0045t0006 a0002c0078t0003 others(28): Show a0001c0032t0004 a0001c0045t0006 a0002c0078t0003 a0002c0100t0004 a0002c0107t0001 a0002c0111t0010 a0004c0038t0004 a0008c0084t0001 a0011c0148t0017 a0013c0094t0001 a0013c0095t0001 a0015c0033t0004 a0015c0064t0001 a0020c0150t0001 a0020c0152t0001 a0022c0086t0006 a0022c0087t0006 a0024c0162t0001 a0030c0089t0003 a0034c0091t0003 a0036c0139t0003 a0037c0037t0001 a0039c0090t0001 a0041c0149t0010 a0042c0036t0003 a0043c0088t0001 a0044c0132t0001 a0045c0044t0003 a0046c0153t0001 a0053c0083t0001 a0060c0131t0002	a0001c0032t0004g0125 a0001c0045t0006g0063 a0002c0078t0003g0018 others(28): Show a0001c0032t0004g0125 a0001c0045t0006g0063 a0002c0078t0003g0018 a0002c0100t0004g0031 a0002c0107t0001g0073 a0002c0111t0010g0248 a0004c0038t0004g0056 a0008c0084t0001g0034 a0011c0148t0017g0070 a0013c0094t0001g0009 a0013c0095t0001g0095 a0015c0033t0004g0128 a0015c0064t0001g0165 a0020c0150t0001g0179 a0020c0152t0001g0175 a0022c0086t0006g0030 a0022c0087t0006g0029 a0024c0162t0001g0014 a0030c0089t0003g0003 a0034c0091t0003g0019 a0036c0139t0003g0177 a0037c0037t0001g0026 a0039c0090t0001g0120 a0041c0149t0010g0071 a0042c0036t0003g0236 a0043c0088t0001g0083 a0044c0132t0001g0066 a0045c0044t0003g0004 a0046c0153t0001g0171 a0053c0083t0001g0228 a0060c0131t0002g0069	31	252	0.1230	-183	c.828 others(17): Show c.828-3531_828-3349del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	380329	GCTTGGAG others(176): Show GCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAG ATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCT AGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAAC CCCAGCACTCTAGGAGGCTGAGATGGCAGGATCA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02630.hp1 HG02717.hp2 others(3): Show HG01175.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0041	a0001c0049 a0002c0122 a0003c0134 others(3): Show a0001c0049 a0002c0122 a0003c0134 a0008c0084 a0008c0119 a0041c0149	a0001c0049t0004 a0002c0122t0002 a0003c0134t0001 others(3): Show a0001c0049t0004 a0002c0122t0002 a0003c0134t0001 a0008c0084t0001 a0008c0119t0001 a0041c0149t0010	a0001c0049t0004g0057 a0002c0122t0002g0232 a0003c0134t0001g0217 others(3): Show a0001c0049t0004g0057 a0002c0122t0002g0232 a0003c0134t0001g0217 a0008c0084t0001g0034 a0008c0119t0001g0213 a0041c0149t0010g0071	6	254	0.0236	-183	c.260 others(17): Show c.2605+577_2605+759del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EXOC3L4_chr14_103089725_103115559	103109179	CCCTCTCT others(176): Show CCCTCTCTCCCTCGCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTC TCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCC CATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC TCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0271 a0001c0005t0001g0271	1	391	0.0026	-183	c.197 others(17): Show c.1976+667_1977-665del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360708	TCCAGCAC others(176): Show TCCAGCACTACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCAC CTCCACCACTACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCA CCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACC ACCACCTCCACCACCACCTCCACCACCACCTCCA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18965.hp2 NA18960.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0020 a0001c0003t0001 a0001c0001t0020 a0001c0003t0001	a0001c0001t0020g0017 a0001c0003t0001g0054 a0001c0001t0020g0017 a0001c0003t0001g0054	2	228	0.0088	-183	c.544 others(18): Show c.544-10083_544-9901del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360816	ACCACCAC others(176): Show ACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTC CACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCA CCTCCAGCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAGC ACCACCTCCACCACTACCACCTCCAGCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	225	0.0044	-183	c.544 others(19): Show c.544-10191_544-10009del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361521	CACCACCT others(176): Show CACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCA CCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACC TCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCAC CTCCACCACCACCTCCACCACCACCTCCACCACT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0115 a0001c0001t0073g0115	1	222	0.0045	-183	c.544 others(19): Show c.544-10896_544-10714del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805599	TCCCCCCT others(176): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0064 a0003c0003t0001g0064	1	285	0.0035	-183	c.14 others(11): Show c.1434_*1616del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1313		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806462	TCCCCCCT others(176): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	284	0.0035	-183	c.22 others(11): Show c.2297_*2479del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2176		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806539	CCCCTCAG others(176): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	289	0.0035	-183	c.23 others(11): Show c.2374_*2556del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2253		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806607	CCTTCCCT others(176): Show CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0036 a0001c0010t0001g0036	1	312	0.0032	-183	c.24 others(11): Show c.2442_*2624del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2321		chr2	TogoVar
HEATR6_chr17_60036008_60083921	60042787	CGTCAGCA others(176): Show CGTCAGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGTCAGCATCCTC GGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGTGGC TGTGAGGCACCGTCAGCATCCTCGGTCCTGTGCGGCTGTGAGGCACCGTC AGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	244	0.0041	-183	c.59 others(9): Show c.593_*775del	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	593		chr17	TogoVar
INPP5F_chr10_119721050_119834147	119794812	CTCCCTCC others(176): Show CTCCCTCCCAGAAGGGGCGGCTGGCCGGGCGGGGGTCTGACCCCCTCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0306 a0001c0003t0003g0306	1	326	0.0031	-183	c.670 others(17): Show c.670-1898_670-1716del	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr10	TogoVar

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