Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
FAM161A_chr2_61819848_61859060	61848911	TATATTTA others(177): Show TATATTTATATATATTTATATATATATATTTATATATATTTATATATATA TTTATATATATATATATTTATATATTTATATATATTTATATATATATTTA TATATTTATATATATTTATATATATATTTATATATTTATATATATTTATA TATATATAAATATATATATTTATATATATATTTAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0089 a0001c0001t0024g0089	1	396	0.0025	-184	c.183 others(17): Show c.183+4764_183+4947del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FAM210A_chr18_13658347_13731558	13674895	CTTCTTTA others(177): Show CTTCTTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCGTGACTTA TTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTC CTGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCTGT TTCCTGATTATTAACATTCCTGAGCCCCAACTTCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG02922.hp1 others(1): Show HG01891.hp1 HG02895.hp2 HG02922.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014	a0001c0001t0006g0265 a0001c0001t0009g0039 a0001c0001t0014g0019 a0001c0001t0006g0265 a0001c0001t0009g0039 a0001c0001t0014g0019	4	319	0.0125	-184	c.474 others(17): Show c.474-3106_474-2923del	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
GAL3ST2_chr2_241771822_241809287	241806140	GACCTCCG others(177): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	305	0.0033	-184	c.19 others(11): Show c.1975_*2158del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1854		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806596	TCCGCAGG others(177): Show TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	312	0.0032	-184	c.24 others(11): Show c.2431_*2614del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2310		chr2	TogoVar
GAS6_chr13_113815549_113869076	113828919	ACCACCTG others(177): Show ACCACCTGATCCTCCCCTGAGCCAAGAGGGTCCCGACCTCAGGGAGACCA CCTGATCCTCCCCTGAGCCAAGAGGGTCCCGATCTCAGGGAGACCACCTG ATCCTCACCTGGGCCAAGAGGGTCTCAATCTCAGGCAGACCACATGATCC TCACCTGGGCCAAGAGGGTCCCGATCTCAGGGAGG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18990.hp1 NA19088.hp1 NA18522.hp1 NA18990.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0001 a0001c0003t0001 a0001c0008t0001	a0001c0003t0001g0062 a0001c0003t0001g0123 a0001c0008t0001g0072 a0001c0003t0001g0062 a0001c0003t0001g0123 a0001c0008t0001g0072	3	142	0.0211	-184	c.114 others(17): Show c.1144-392_1144-209del	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GCNT3_chr15_59606783_59627723	59610988	CCCCTCCC others(177): Show CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCACCCTCCCCCTCCCCTCGCCCTCCCCCTCCCCTCGCCCT CCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCC TCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 NA18946.hp2 NA18954.hp2 others(5): Show HG01943.hp1 NA18946.hp2 NA18954.hp2 NA18957.hp1 NA18999.hp2 NA19005.hp2 NA19065.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0008 a0001c0002t0009 others(3): Show a0001c0001t0013 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0094 a0001c0002t0095	a0001c0001t0013g0002 a0001c0002t0008g0002 a0001c0002t0009g0002 others(3): Show a0001c0001t0013g0002 a0001c0002t0008g0002 a0001c0002t0009g0002 a0001c0002t0011g0002 a0001c0002t0094g0002 a0001c0002t0095g0002	8	424	0.0189	-184	c.-12 others(11): Show c.-1243_-1060del	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		794		chr15	TogoVar
GEN1_chr2_17749138_17793946	17778248	GTATACAC others(177): Show GTATACACACATATGTGTGTACATATATGTATATACACACACATGTGTGT GTACATATATGTATATACACACACACGTGTACATATATGTATACACACAC ATGTGTGTACATATATGTATATACACACACATATATGTGTGTACATATAT GTATATACACACATATATGTGTGTACATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0051 a0003c0003t0003g0051	1	316	0.0032	-184	c.126 others(17): Show c.1264+196_1264+379del	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GFOD1_chr6_13352830_13492600	13434165	GCAGGGCA others(177): Show GCAGGGCATTATGGGAACACAGGAATCAAGTGCATGGCATTATGAGAACA CAAATCAAGTGCAGAGCATTATGGAAGCACAGAAGTCAAGTGCAGGGCCT TATGGGAACACAGAAGTCAAGTGCAGGGCTTTATGGGAACACAGAAATCA AGTGCAGGGCATTATGGGAATATAGAGGTCAAGTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0002 a0001c0001t0033g0002	1	228	0.0044	-184	c.253 others(19): Show c.253+52289_253+52472del	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GLYATL1B_chr11_59081307_59099786	59090492	CGTGATTT others(177): Show CGTGATTTTTCCATTAAGTTTACCCTTAGGTATTTTATATTATTTTTTAA GATTATTAAATTATTTTTCCTTTTCTATTTCTGAGCATTATTATTTTGTT ATTGCTTTCTATTTATATTCTTCATTTCCAAATATGTCACACTATGCTTT AAAATCTTCTTTGTTTGCCTGGGGTGTTATTTGTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18982.hp2 HG00609.hp1 NA18982.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0027 a0005c0006t0001g0027	2	434	0.0046	-184	c.187 others(17): Show c.187-3036_187-2853del	GLYATL1B	ENSG00000255151.2	transcript	ENST00000527482.2	protein_coding	2/4			chr11	TogoVar
GPM6A_chr4_175627937_175817264	175637538	CAATATAT others(177): Show CAATATATTATATATTATATAAAAATATATTATATATTATATAAAATATA TTATATATTATGTAAAATATATAATATATAATATATATTATATATATATT ATATATTATATAAAATATAAAATATATAATATATATAATATATATATAAT ATATAATATATTATATATTATATATATTTATATAT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18974.hp2 NA18955.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0254 a0001c0001t0001g0255	2	268	0.0075	-184	c.684 others(17): Show c.684+2407_685-2482del	GPM6A	ENSG00000150625.17	transcript	ENST00000393658.7	protein_coding	6/6			chr4	TogoVar
HDAC4_chr2_239043168_239406020	239232656	CCCCTCAC others(177): Show CCCCTCACCAAGCCAAGGGTGGCCCTTCCCCTCACCAAGCCAAGGGTGGC CCTTCCCTCACCAAGCCAAGGGTGGCCCTTCCCCTCACCAAGCCAAGGTG GCCCTTCCCTCTCCAAGCCAAGGGCGGCCCTTCCCCTCACCAAGCCAAGG GTGGCCCTTCCCTCACCAAGCCAAGGGTGGCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01168.hp1 others(1): Show HG00642.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0014 a0001c0001 a0001c0002 a0002c0014	a0001c0001t0005 a0001c0002t0009 a0002c0014t0002 a0001c0001t0005 a0001c0002t0009 a0002c0014t0002	a0001c0001t0005g0099 a0001c0002t0009g0100 a0002c0014t0002g0101 others(1): Show a0001c0001t0005g0099 a0001c0002t0009g0100 a0002c0014t0002g0101 a0002c0014t0002g0102	4	240	0.0167	-184	c.94+ others(15): Show c.94+3753_94+3936del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HSD17B14_chr19_48808018_48841491	48834486	GCTGAGGT others(177): Show GCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGA GGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCT GGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0327 a0002c0002t0001g0327	1	389	0.0026	-184	c.128 others(15): Show c.128-312_128-129del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48835081	AGCCTGGA others(177): Show AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGT AGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03491.hp2 HG03239.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0191 a0001c0001t0001g0117 a0001c0001t0001g0191	2	364	0.0055	-184	c.127 others(15): Show c.127+540_127+723del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IL1A_chr2_112768925_112789493	112776428	TCCCAAAA others(177): Show TCCCAAAAACCCACAACCATGACCCGCCCCCTCCTCTGAATGTCCTACCC AAAAACCCACAACCACGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAA ACCCACAACCACGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCC ACAACCACGACCCGCCCCCTCCTCTGAATGTCCTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(180): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0004 a0004c0005 a0005c0007 a0007c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0005 a0001c0008t0004 a0002c0002t0002 a0002c0002t0004 a0003c0004t0005 a0004c0005t0003 a0005c0007t0005 a0007c0009t0002	a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0016 others(48): Show a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0029 a0001c0001t0004g0054 a0001c0001t0004g0061 a0001c0001t0004g0065 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0013 a0001c0001t0006g0048 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0003t0005g0021 a0001c0008t0004g0069 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0004g0082 a0003c0004t0005g0028 a0004c0005t0003g0059 a0005c0007t0005g0056 a0007c0009t0002g0090	183	323	0.5666	-184	c.616 others(17): Show c.616-1345_616-1162del	IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6			chr2	TogoVar
IL1R2_chr2_101986960_102033544	102003002	ATGTCTGT others(177): Show ATGTCTGTGTCTGTGTCTCTGTCTGTGTCTGTGTCTATGCCTATGTCTAT ATCTGTGTCTGTGTCTGGCTGTGGCTGTGTCCGTGTCTGTGTCTATGTCT GTGTCTATGTCTGTGTCTGTGTCTCTGTCTGTGTCTATGTCTGTGTCTGT GTCTCTGTCTGTGTCTATGTCTGTGTCTGTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(83): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18971.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18993.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19007.hp2 NA19011.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19085.hp1 NA19086.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0009c0016	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0009t0001 a0009c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0003t0001g0101 a0001c0004t0001g0091 a0001c0009t0001g0109 a0009c0016t0001g0003	86	422	0.2038	-184	c.-61 others(17): Show c.-61-5501_-61-5318del	IL1R2	ENSG00000115590.14	transcript	ENST00000332549.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNQ3_chr8_132115861_132486095	132164243	ATTGCCCA others(177): Show ATTGCCCAAGGTCTACACTGAGCAAATCCCCTCACAAGTGGAATGGTACT CTGTCATTATTACGTGGATCACATTGTAGTAGAATTACATGTAGTCTCGT TTTTTTTTTTTCTTGTCTAAAATATGAGCACTCTGGAGCCCAGCACGTGA GAGTGCTCACTAAATGTTGAAAGAATGACTGGCCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG01884.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0058 a0001c0001t0056 a0001c0001t0058	a0001c0001t0056g0087 a0001c0001t0058g0065 a0001c0001t0056g0087 a0001c0001t0058g0065	2	176	0.0114	-184	c.123 others(17): Show c.1236-933_1236-750del	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	8/14			chr8	TogoVar
KNDC1_chr10_133155219_133231412	133223499	GTGTGCAT others(177): Show GTGTGCATGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGT GTGCGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGT GTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTCTGTGTGT GTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19240.hp1 HG02630.hp2 NA19240.hp1	a0013 a0013	a0013c0018 a0013c0045 a0013c0018 a0013c0045	a0013c0018t0005 a0013c0045t0005 a0013c0018t0005 a0013c0045t0005	a0013c0018t0005g0264 a0013c0045t0005g0243 a0013c0018t0005g0264 a0013c0045t0005g0243	2	315	0.0063	-184	c.501 others(18): Show c.5019-1155_5019-972del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	858063	TCGGGATG others(177): Show TCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTGCGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTG TGCGTGGTGTCACGGGATGGGTGTGAGTGGTGTCA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0234 a0001c0026t0001g0234	1	248	0.0040	-184	c.153 others(19): Show c.1530-3541_1530-3358del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	904196	TGGTGACC others(177): Show TGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTCGTGGT GACCTCTGCATCGCCCACAGGACGCCTGTCTCTGATGTGTGGTGGTGACC TCTGCACTGCCTGTGGGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCT GCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG01258.hp2 others(4): Show HG00741.hp2 HG01071.hp1 HG01258.hp2 HG01978.hp1 HG02300.hp1 HG03239.hp1 HG04204.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0010 a0002c0035 a0008c0036 a0001c0010 a0002c0035 a0008c0036	a0001c0010t0001 a0002c0035t0001 a0008c0036t0003 a0001c0010t0001 a0002c0035t0001 a0008c0036t0003	a0001c0010t0001g0112 a0001c0010t0001g0271 a0001c0010t0001g0272 others(4): Show a0001c0010t0001g0112 a0001c0010t0001g0271 a0001c0010t0001g0272 a0001c0010t0001g0276 a0001c0010t0001g0277 a0002c0035t0001g0280 a0008c0036t0003g0275	7	292	0.0240	-184	c.663 others(17): Show c.663+6551_663+6734del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	960966	CACAGACT others(177): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CAGACTCACGGTGACAGCACGGGATCACGACCCAG	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	276	0.0036	-184	c.194 others(17): Show c.194-6484_194-6301del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LRRC24_chr8_144517388_144532033	144531294	AAGGGCAC others(177): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	368	0.0027	-184	c.-45 others(11): Show c.-4578_-4395del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4262		chr8	TogoVar
MAP4K3_chr2_39244266_39442285	39327703	AAAATTTA others(177): Show AAAATTTAAATTACTATAAGAAAAGCGAATTTCAAAGTGTCAGTTATTAC TTTTATGATGACTAGATTCCAAGTAGCTGGTAGAAATGCCCTAGTGGAGT GGGAAATGCATGCAAGTGATACGCTCCTAACTTGCCTCCCCTTACTAGTT CACCACATTAGCTGATGCTCTCCCTTCTTCTATGT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0017 a0002c0010t0005g0017	1	230	0.0043	-184	c.531 others(17): Show c.531-1610_531-1427del	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	8/33			chr2	TogoVar
MBD3L5_chr19_7025578_7038011	7035766	ATATATAT others(177): Show ATATATATAATATAATTATATAACATATAAATTATATTATATATATAATA TAATTATATAACATATAAATTATATTATATATATAATATAATTATATAAC ATATAAATTATATTATATATAATATAATTCTATAACATATAAATTATATT ATATATAATATAATTATATAACATATAAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	244	0.0041	-184	c.28 others(11): Show c.2873_*3056del	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2756		chr19	TogoVar
MUC4_chr3_195741771_195816929	195767681	TCACTGGC others(177): Show TCACTGGCCACCCCCCAAAAAATACCACCATCGGCCACCACCACCATCAC CACCACCATCACCATCGCCACCACCACCATCACCACCACCACCACCATCA CCACCATCATTGCCACCACCATCATCACCACCATCACCACCACCACCACC ATCACCACCACCACCATCGCCACCATCACCCCCAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp1 HG01884.hp1 HG02976.hp1	a0047 a0080 a0047 a0080	a0047c0140 a0080c0141 a0047c0140 a0080c0141	a0047c0140t0005 a0080c0141t0002 a0047c0140t0005 a0080c0141t0002	a0047c0140t0005g0226 a0080c0141t0002g0219 a0047c0140t0005g0226 a0080c0141t0002g0219	2	248	0.0081	-184	c.135 others(20): Show c.13530-1114_13530-931del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
NEO1_chr15_73047463_73310205	73191318	TGTAACTT others(177): Show TGTAACTTTAGGATAATAGTAATTGGAAAGAACATAGAAAGACAGAGTAT CGATGAGAATTCAATAGTCAGCATTAAAGGAGATTAAAAGTGAAGATAAA AGCTTAACTTTATGAAGCAAAGTTTGAAGGTTTTTTCAAAATAGACAACA GAAATCTTTAGGATAATAGTAACTTTAGGATAATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00673.hp2 others(98): Show HG00408.hp1 HG00423.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02622.hp2 HG02683.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18941.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18981.hp1 NA18985.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19060.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0004 a0001c0018 others(3): Show a0001c0002 a0001c0004 a0001c0018 a0001c0019 a0001c0020 a0005c0022	a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 others(12): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0001c0004t0001 a0001c0004t0003 a0001c0018t0001 a0001c0019t0016 a0001c0020t0001 a0005c0022t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 others(98): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0058 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0214 a0001c0002t0001g0268 a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0005g0085 a0001c0002t0008g0280 a0001c0002t0008g0299 a0001c0002t0009g0016 a0001c0002t0009g0024 a0001c0002t0010g0020 a0001c0002t0010g0032 a0001c0002t0011g0324 a0001c0002t0012g0036 a0001c0002t0014g0262 a0001c0002t0015g0076 a0001c0004t0001g0105 a0001c0004t0001g0279 a0001c0004t0001g0292 a0001c0004t0001g0300 a0001c0004t0003g0007 a0001c0004t0003g0061 a0001c0004t0003g0062 a0001c0004t0003g0110 a0001c0004t0003g0119 a0001c0004t0003g0126 a0001c0004t0003g0184 a0001c0018t0001g0318 a0001c0019t0016g0047 a0001c0020t0001g0304 a0005c0022t0001g0084	101	321	0.3146	-184	c.129 others(21): Show c.1291+13047_1291+13230del	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEU4_chr2_241804193_241822413	241806140	GACCTCCG others(177): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0124 a0002c0003t0002g0124	1	306	0.0033	-184	c.-31 others(11): Show c.-3137_-2954del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3052		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806578	CCCCTCAG others(177): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	308	0.0032	-184	c.-26 others(11): Show c.-2699_-2516del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2614		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79521031	GTGTATGG others(177): Show GTGTATGGGGGTGGGAGCATCCACTGATGTGTGTCCATGTGTGTGTGGGG GCATCCGCTGATGTGTGTGTCTGTGTGTGTGTGGGGGGCGTCTGCTGATG TGTGTGTCTGTGTGTGTGTGTAGGGGGGGAGCATCCACTGATGTGTGTCC ATGTGTGTGTGGGGGCATCAGCTGATATGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0008 a0003c0007t0008	a0003c0007t0008g0032 a0003c0007t0008g0032	1	320	0.0031	-184	c.278 others(19): Show c.2783-6493_2783-6310del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79521103	GTGTGTGT others(177): Show GTGTGTGTGTGGGGGGCGTCTGCTGATGTGTGTGTCTGTGTGTGTGTGTA GGGGGGGAGCATCCACTGATGTGTGTCCATGTGTGTGTGGGGGCATCAGC TGATATGTGTGTCTGTGTGTGGGGGGTGGAGCATCCACTGATGTGTGTCC ATGTGTGTGTGGGGGCATCCGCTGATGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0008 a0001c0027t0008	a0001c0027t0008g0013 a0001c0027t0008g0013	1	320	0.0031	-184	c.278 others(19): Show c.2783-6409_2783-6226del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NMRK2_chr19_3928069_3947416	3937327	GGGGTCCG others(177): Show GGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCGGGG TCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCGGGGTCCG CCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCGGGGTCCGCCCT CCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	402	0.0025	-184	c.166 others(15): Show c.166+171_166+354del	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PARL_chr3_183824271_183889880	183881694	GCTGCAGT others(177): Show GCTGCAGTGAGCTATGATAGTGCCACTGCACTTCAACCTAGGTGACAGAA CAACTCGCCTCTAAAAAATACAAAAGATACTGGGCGGGAGGATGGATTCT ACATAAACTCTGGCATAACAAAATTATTTTCTTGACCCCATCGTGAGTTA ATAGATGGTCAGTTAAAACAAAATATAATATATAC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0022 a0006c0005t0001g0022	1	356	0.0028	-184	c.125 others(17): Show c.125+2844_125+3027del	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PBX3_chr9_125742373_125972377	125780627	TGGCCGGG others(177): Show TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCGGGGGGCTGACCACCCCCACCTCCCTCCCGGACGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGCC	T T	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	292	0.0034	-184	c.274 others(19): Show c.274+32007_274+32190del	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGAM5_chr12_132705842_132727734	132718358	TGGTGTCC others(177): Show TGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGAGTGGGGTGC GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGTGTGCTGGGTGGGGGGTCCT GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG TGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0150 a0001c0008t0006g0150	1	387	0.0026	-184	c.719 others(15): Show c.719+278_719+461del	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLAA_chr9_26898372_26952242	26933225	GCCACTGC others(177): Show GCCACTGCACTCCAGCCTGGTGAAAGAGCAAGACTCTGTCTAAAAAAAAA AAAACCATAAAAAAGCTGCGCATGGTGGTGGGCACCTGTAATCCCAGCTA CTCTGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCAGTCCTGG CAGAGGCTATAGTGAGCCGAGATCACAAGATCACA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	362	0.0028	-184	c.343 others(17): Show c.343+1604_343+1787del	PLAA	ENSG00000137055.15	transcript	ENST00000397292.8	protein_coding	2/13			chr9	TogoVar
PLEKHA4_chr19_48832097_48873617	48834486	GCTGAGGT others(177): Show GCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGA GGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCT GGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0099 a0002c0002t0002g0099	1	295	0.0034	-184	c.26 others(11): Show c.2619_*2802del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2610		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835081	AGCCTGGA others(177): Show AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGT AGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	278	0.0036	-184	c.20 others(11): Show c.2024_*2207del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2015		chr19	TogoVar
POLG_chr15_89311320_89339824	89325087	AGTGAGTG others(177): Show AGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(107): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02738.hp2 HG02886.hp1 HG03239.hp1 HG03239.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19054.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0009 a0013 a0015	a0001c0001 a0001c0017 a0002c0002 others(8): Show a0001c0001 a0001c0017 a0002c0002 a0002c0027 a0003c0005 a0004c0004 a0004c0021 a0006c0007 a0009c0016 a0013c0024 a0015c0022	a0001c0001t0002 a0001c0017t0002 a0002c0002t0002 others(8): Show a0001c0001t0002 a0001c0017t0002 a0002c0002t0002 a0002c0027t0002 a0003c0005t0002 a0004c0004t0002 a0004c0021t0002 a0006c0007t0002 a0009c0016t0002 a0013c0024t0002 a0015c0022t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 others(47): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0147 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0186 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0017t0002g0179 a0002c0002t0002g0046 a0002c0027t0002g0194 a0003c0005t0002g0027 a0004c0004t0002g0024 a0004c0004t0002g0167 a0004c0004t0002g0169 a0004c0004t0002g0180 a0004c0004t0002g0190 a0004c0021t0002g0174 a0006c0007t0002g0042 a0006c0007t0002g0184 a0009c0016t0002g0178 a0013c0024t0002g0182 a0015c0022t0002g0205	110	393	0.2799	-184	c.194 others(17): Show c.1949+179_1949+362del	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP1R9A_chr7_94902594_95301400	95072684	TATATATT others(177): Show TATATATTATGTAATATAATATATAATATATTATATGTATATTTATTACA TATAATATAATATATAATATTATATTAAATATATATATTAAATATATATA TTTATATATTATATTTATAATTATTATATATAATAATTATTATATATATA ATAATTATTATATATAATATAAGTTATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0153 a0004c0005t0003g0153	1	287	0.0035	-184	c.139 others(21): Show c.1396-38569_1396-38386del	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM34_chr1_235126183_235166250	235135084	ACCCAGGC others(177): Show ACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCAATGAAACCTCTGCC TCCCAGGTTCAAGTGATTCTCCTTCCTCGGCCTCCCAAGTAGCTGGGATT ACAGGTATGAGCCACCACATCTGGCTAATTTTTAAATTTTTTGTATTTTT TTTTTTCCCCCTTGAGATGGAGTCTTGCTCTGTGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG00738.hp2 others(35): Show HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01891.hp2 HG02027.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03453.hp2 HG03540.hp1 HG03654.hp1 HG04115.hp1 HG04115.hp2 NA18943.hp1 NA18954.hp2 NA18978.hp2 NA18995.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0011 a0001c0002 a0001c0004 a0001c0011	a0001c0002t0002 a0001c0004t0002 a0001c0011t0002 a0001c0002t0002 a0001c0004t0002 a0001c0011t0002	a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0043 others(28): Show a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0261 a0001c0004t0002g0245 a0001c0004t0002g0250 a0001c0011t0002g0260	38	386	0.0984	-184	c.100 others(17): Show c.1008+384_1008+567del	RBM34	ENSG00000188739.15	transcript	ENST00000408888.8	protein_coding	10/10			chr1	TogoVar
RHOF_chr12_121772754_121798688	121785466	GCCCAGGC others(177): Show GCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGTAAGCTACGCC TCCTGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACT ACAGGCAGGTGCCACCATGCCTGGCTAATTTTTTTTGTATTTTTATTATT TTATTTTATTTTTGAGACGGAGTCTCACTCTGTCA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0110 a0001c0001t0043g0110	1	384	0.0026	-184	c.227 others(17): Show c.227-4458_227-4275del	RHOF	ENSG00000139725.8	transcript	ENST00000267205.7	protein_coding	2/4			chr12	TogoVar
RNF126_chr19_642526_668214	650009	GCCCAGGC others(177): Show GCCCAGGCTGGGGATGGGGACAGGCACCCCCACCCACTCACCAGGGGCCC AGGCTGGGGATGGGGACAGGCACCCCCTCCTACTCACCAGGGGCCCAGGC TGGGGATGGGGACAGGCACCCCCTCCTACTCACCAGGGACCCTGGCTGGG GATGGGGACAGGCACCCCCACCCACTCACCAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01109.hp1 others(20): Show HG00639.hp2 HG00735.hp1 HG01109.hp1 HG01891.hp1 HG02280.hp2 HG02622.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp1 NA18965.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18995.hp2 NA19030.hp1 NA19079.hp2 NA19089.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0001c0008t0003	a0001c0001t0001g0084 a0001c0001t0003g0054 a0001c0001t0003g0055 others(19): Show a0001c0001t0001g0084 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0071 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0114 a0001c0001t0003g0195 a0001c0001t0003g0206 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0278 a0001c0001t0003g0351 a0001c0001t0008g0037 a0001c0002t0001g0276 a0001c0002t0003g0014 a0001c0002t0003g0083 a0001c0002t0003g0397 a0001c0008t0003g0239	23	432	0.0532	-184	c.506 others(14): Show c.506+41_506+224del	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding	5/8			chr19	TogoVar
RNF213_chr17_80255852_80403794	80315585	GTGGTGGT others(177): Show GTGGTGGTGGTGGTGGTACTGGAGGTGATGGTGGTCCGTGGAGGTGATGG TGGTGGTGGTAATGGAGGTGATGGTGGTGGTACTGGAGGTGATGGTGGTG GTGAAGGTGATGGTAGAGGTAATGGAAGTGATGGTGGAGGTACTGGAGGT GATGGTGGTGGTGGTGGAGGTGACAGTGGTGATGC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00609.hp2 others(60): Show HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG02040.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03486.hp2 HG03579.hp1 HG03831.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp2 NA18944.hp1 NA18946.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18986.hp1 NA19004.hp1 NA19005.hp2 NA19030.hp2 NA19060.hp1 NA19065.hp2 NA19081.hp1 NA19082.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(30): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0014 a0018 a0020 a0022 a0025 a0027 a0030 a0032 a0037 a0038 a0046 a0048 a0056 a0057 a0065 a0068 a0070 a0073 a0085 a0088 a0100 a0103	a0001c0001 a0001c0004 a0001c0006 others(41): Show a0001c0001 a0001c0004 a0001c0006 a0001c0021 a0001c0029 a0001c0094 a0001c0124 a0002c0002 a0002c0039 a0002c0099 a0003c0005 a0003c0030 a0003c0077 a0004c0045 a0005c0105 a0006c0009 a0007c0008 a0008c0013 a0011c0036 a0011c0037 a0012c0012 a0013c0118 a0014c0138 a0018c0019 a0020c0026 a0022c0022 a0025c0088 a0027c0038 a0030c0031 a0032c0142 a0037c0055 a0038c0137 a0046c0115 a0048c0136 a0056c0134 a0057c0120 a0065c0065 a0068c0113 a0070c0146 a0073c0147 a0085c0135 a0088c0042 a0100c0068 a0103c0104	a0001c0001t0019 a0001c0004t0002 a0001c0004t0006 others(49): Show a0001c0001t0019 a0001c0004t0002 a0001c0004t0006 a0001c0004t0010 a0001c0006t0010 a0001c0021t0001 a0001c0029t0006 a0001c0094t0001 a0001c0124t0001 a0002c0002t0005 a0002c0002t0007 a0002c0039t0002 a0002c0099t0020 a0003c0005t0006 a0003c0005t0010 a0003c0005t0061 a0003c0030t0006 a0003c0077t0022 a0004c0045t0010 a0005c0105t0004 a0006c0009t0005 a0006c0009t0007 a0006c0009t0018 a0007c0008t0004 a0008c0013t0017 a0011c0036t0012 a0011c0036t0033 a0011c0037t0012 a0012c0012t0037 a0013c0118t0020 a0014c0138t0003 a0018c0019t0014 a0020c0026t0006 a0022c0022t0003 a0025c0088t0011 a0027c0038t0003 a0030c0031t0003 a0032c0142t0025 a0037c0055t0005 a0038c0137t0009 a0046c0115t0003 a0048c0136t0014 a0056c0134t0004 a0057c0120t0038 a0065c0065t0014 a0068c0113t0004 a0070c0146t0036 a0073c0147t0017 a0085c0135t0060 a0088c0042t0004 a0100c0068t0018 a0103c0104t0004	a0001c0001t0019g0079 a0001c0004t0002g0054 a0001c0004t0006g0039 others(60): Show a0001c0001t0019g0079 a0001c0004t0002g0054 a0001c0004t0006g0039 a0001c0004t0006g0266 a0001c0004t0010g0040 a0001c0006t0010g0043 a0001c0021t0001g0066 a0001c0021t0001g0067 a0001c0021t0001g0080 a0001c0029t0006g0048 a0001c0094t0001g0162 a0001c0124t0001g0065 a0002c0002t0005g0072 a0002c0002t0007g0050 a0002c0039t0002g0240 a0002c0099t0020g0253 a0003c0005t0006g0058 a0003c0005t0010g0265 a0003c0005t0061g0044 a0003c0030t0006g0037 a0003c0030t0006g0042 a0003c0077t0022g0056 a0004c0045t0010g0195 a0005c0105t0004g0270 a0006c0009t0005g0273 a0006c0009t0007g0051 a0006c0009t0007g0262 a0006c0009t0018g0272 a0007c0008t0004g0078 a0007c0008t0004g0287 a0008c0013t0017g0236 a0008c0013t0017g0241 a0008c0013t0017g0250 a0011c0036t0012g0281 a0011c0036t0033g0282 a0011c0037t0012g0280 a0011c0037t0012g0283 a0012c0012t0037g0212 a0013c0118t0020g0166 a0014c0138t0003g0005 a0018c0019t0014g0017 a0018c0019t0014g0034 a0018c0019t0014g0278 a0020c0026t0006g0138 a0022c0022t0003g0170 a0025c0088t0011g0165 a0027c0038t0003g0007 a0030c0031t0003g0019 a0032c0142t0025g0177 a0037c0055t0005g0077 a0038c0137t0009g0015 a0046c0115t0003g0035 a0048c0136t0014g0011 a0056c0134t0004g0014 a0057c0120t0038g0249 a0065c0065t0014g0028 a0068c0113t0004g0031 a0070c0146t0036g0172 a0073c0147t0017g0175 a0085c0135t0060g0016 a0088c0042t0004g0203 a0100c0068t0018g0261 a0103c0104t0004g0023	63	290	0.2172	-184	c.281 others(19): Show c.2812-1586_2812-1403del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288273	TCCCCCGA others(177): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0267 a0001c0001t0011g0267	1	224	0.0045	-184	c.166 others(17): Show c.1662+240_1662+423del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4194222	ACACGTAT others(177): Show ACACGTATGTGTATACATGTATAGATATATGTATGCACGTATGTGTATAC ATGTATAGATATATGTATGCACGTATGTGTATACATGTATACATATATGT ATGCACGTATGTGTATACATGTATAGATATATGTATGCACGTATGTGTAT ACATGTATGTGTATACATGTATACATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02976.hp1 HG03041.hp1 others(1): Show HG01243.hp2 HG02976.hp1 HG03041.hp1 NA20129.hp1	a0001 a0016 a0025 a0001 a0016 a0025	a0001c0037 a0001c0071 a0016c0045 others(1): Show a0001c0037 a0001c0071 a0016c0045 a0025c0081	a0001c0037t0002 a0001c0071t0057 a0016c0045t0015 others(1): Show a0001c0037t0002 a0001c0071t0057 a0016c0045t0015 a0025c0081t0008	a0001c0037t0002g0077 a0001c0071t0057g0031 a0016c0045t0015g0046 others(1): Show a0001c0037t0002g0077 a0001c0071t0057g0031 a0016c0045t0015g0046 a0025c0081t0008g0075	4	112	0.0357	-184	c.509 others(21): Show c.5099-11653_5099-11470del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SHTN1_chr10_116876477_117010187	116980866	ATGAGATT others(177): Show ATGAGATTATATCACCAATGTCCAGAAGTTTTATTAGTATACCAGGACCA CTTAAACAAGAATAGACAATTTTATTGAAGCCACATCCCAAAATAATCCT TGAAAACTAGTCCATAAAATAGGTGAATGTGTACATGTAAAGATATAGTT CTGAAAATAATTACATTTACAGGCTGGGCGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	290	0.0034	-184	c.59- others(15): Show c.59-1742_59-1559del	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	1/16			chr10	TogoVar
SLC30A9_chr4_41985530_42095461	42021918	TTTTTTTT others(177): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTT GCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00735.hp1 others(58): Show HG00140.hp1 HG00140.hp2 HG00735.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01516.hp2 HG01891.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02145.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04199.hp1 HG06807.hp2 NA18906.hp1 NA18950.hp1 NA18950.hp2 NA18973.hp2 NA18995.hp2 NA18998.hp1 NA19007.hp2 NA19066.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19084.hp2 NA19090.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0004 a0002c0002 a0002c0009 others(2): Show a0001c0004 a0002c0002 a0002c0009 a0002c0010 a0005c0008	a0001c0004t0005 a0001c0004t0013 a0001c0004t0015 others(15): Show a0001c0004t0005 a0001c0004t0013 a0001c0004t0015 a0001c0004t0016 a0001c0004t0020 a0001c0004t0024 a0001c0004t0025 a0001c0004t0026 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0002t0021 a0002c0009t0002 a0002c0010t0002 a0005c0008t0015	a0001c0004t0005g0112 a0001c0004t0005g0113 a0001c0004t0005g0114 others(54): Show a0001c0004t0005g0112 a0001c0004t0005g0113 a0001c0004t0005g0114 a0001c0004t0005g0115 a0001c0004t0005g0116 a0001c0004t0013g0142 a0001c0004t0013g0143 a0001c0004t0015g0009 a0001c0004t0016g0147 a0001c0004t0020g0111 a0001c0004t0024g0145 a0001c0004t0025g0146 a0001c0004t0026g0130 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0019 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0102 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0005g0078 a0002c0002t0005g0100 a0002c0002t0005g0104 a0002c0002t0008g0005 a0002c0002t0008g0091 a0002c0002t0008g0096 a0002c0002t0017g0099 a0002c0002t0018g0084 a0002c0002t0019g0083 a0002c0002t0021g0103 a0002c0009t0002g0071 a0002c0010t0002g0105 a0005c0008t0015g0010	61	162	0.3765	-184	c.435 others(15): Show c.435-914_435-731del	SLC30A9	ENSG00000014824.14	transcript	ENST00000264451.12	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC9A3_chr5_465456_529449	467399	GGGCGCCC others(177): Show GGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGC GCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCT TCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCT GGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG04115.hp2 NA20805.hp1 HG01517.hp2 HG04115.hp2 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0009 a0001c0009t0009 a0001c0003t0009 a0001c0009t0009	a0001c0003t0009g0007 a0001c0009t0009g0081 a0001c0009t0009g0090 a0001c0003t0009g0007 a0001c0009t0009g0081 a0001c0009t0009g0090	3	213	0.0141	-184	c.57 others(11): Show c.5796_*5979del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		3056		chr5	TogoVar
SLC9A3_chr5_465456_529449	467491	GGGTGCCT others(177): Show GGGTGCCTTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAGGGC GCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGATGGCGCCC TCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCT GGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 NA18943.hp2 NA19074.hp2 HG00099.hp1 NA18943.hp2 NA19074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0015 a0002c0004t0006 a0002c0004t0015	a0002c0004t0006g0173 a0002c0004t0006g0209 a0002c0004t0015g0037 a0002c0004t0006g0173 a0002c0004t0006g0209 a0002c0004t0015g0037	3	216	0.0139	-184	c.57 others(11): Show c.5704_*5887del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2964		chr5	TogoVar
SLC9A3_chr5_465456_529449	467696	CTGTCTGA others(177): Show CTGTCTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGATCCCCTCATGT CTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGA CATCCCCTCAGCCTAGAGGGTGCCCTCCTGGTCCCCTCATGTCTGACATC CCCTCAGCCTAGAGGGCGCCCTCCTGATCCCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02451.hp1 HG02559.hp2 HG01361.hp2 HG02451.hp1 HG02559.hp2	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0015 a0002c0004t0025 a0002c0005t0006 a0002c0004t0015 a0002c0004t0025 a0002c0005t0006	a0002c0004t0015g0133 a0002c0004t0025g0143 a0002c0005t0006g0214 a0002c0004t0015g0133 a0002c0004t0025g0143 a0002c0005t0006g0214	3	212	0.0142	-184	c.54 others(11): Show c.5499_*5682del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2759		chr5	TogoVar
SLC9A3_chr5_465456_529449	468020	GTCTGACA others(177): Show GTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCT GACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACA TCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTCCTGTCTGACATCCC CTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG01074.hp1 others(2): Show HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01243.hp1 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0030 a0001c0003 a0001c0030	a0001c0003t0008 a0001c0030t0008 a0001c0003t0008 a0001c0030t0008	a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0008g0112 others(2): Show a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0008g0112 a0001c0003t0008g0152 a0001c0030t0008g0150	5	216	0.0231	-184	c.51 others(11): Show c.5175_*5358del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2435		chr5	TogoVar

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