Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
UCMA_chr10_13216766_13239374	13217249	TAAAAATG others(1485): Show TAAAAATGTTAAACCATGGGGTGCTCGCTTCGGCAGCACATATACTAAAA TTGGAACGATACAGAGAAGATTAGCATGGCCCCTGCGCAAGGATGACACG CAAATTCGTGAAGCGTTCCATATTTTTATGCCGCATATCTACAACTATCT GATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTAT TTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAA CTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAA AGATTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAG GCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACA CCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAA ACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGC AACCTACAACATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGG CTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAAC AAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAA AAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCA CTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCAC ACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGA GAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAA CTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGA ACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAA ATGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATT GCGGCATTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAAC AATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACT ATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATG AAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAA ACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATG GACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGG AGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATT AGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCT GCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAATAA AAAAAGAAAAAAAAAAAAAAAAGAAAAGATAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	464	0.0022	-1492	c.33 others(11): Show c.3362_*4853del		UCMA	ENSG00000165623.10	transcript	ENST00000378681.8	protein_coding					4516		chr10	TogoVar
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(1484): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19004.hp2 NA19089.hp2 HG02074.hp2 NA19004.hp2 NA19089.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0013 a0002c0002 a0005c0013	a0002c0002t0001 a0005c0013t0001 a0002c0002t0001 a0005c0013t0001	a0002c0002t0001g0237 a0002c0002t0001g0244 a0005c0013t0001g0094 a0002c0002t0001g0237 a0002c0002t0001g0244 a0005c0013t0001g0094	3	294	0.0102	-1491	c.901 others(14): Show c.901+62_902-534del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC66A2_chr18_79897420_79956653	79919548	ACAGGAAC others(1484): Show ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAG GGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTC AAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGA GGAGAGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGA ACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAG GTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGT GGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACA GGAACCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTC AGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAG ACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGG GAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGG TCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGA GACGGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCG AGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGG AGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAAC CGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGT CAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTG AGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGG AACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGA GGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCA GTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGAC AGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGG AGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGG TCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAG AGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0277 a0001c0001t0015g0277	1	352	0.0028	-1491	c.392 others(16): Show c.392-1639_392-149del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
UCMA_chr10_13216766_13239374	13217249	TAAAAATG others(1484): Show TAAAAATGTTAAACCATGGGGTGCTCGCTTCGGCAGCACATATACTAAAA TTGGAACGATACAGAGAAGATTAGCATGGCCCCTGCGCAAGGATGACACG CAAATTCGTGAAGCGTTCCATATTTTTATGCCGCATATCTACAACTATCT GATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTAT TTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAA CTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAA AGATTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAG GCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACA CCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAA ACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGC AACCTACAACATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGG CTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAAC AAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAA AAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCA CTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCAC ACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGA GAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAA CTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGA ACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAA ATGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATT GCGGCATTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAAC AATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACT ATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATG AAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAA ACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATG GACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGG AGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATT AGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCT GCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAATAA AAAAAGAAAAAAAAAAAAAAAAGAAAAGATAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(238): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp2 NA19075.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0004 a0002c0003t0001 a0006c0006t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(158): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0293 a0001c0001t0002g0011 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0004g0149 a0001c0001t0005g0307 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0027 a0001c0002t0001g0039 a0001c0002t0001g0053 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0074 a0001c0002t0001g0166 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0001g0201 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0004g0019 a0002c0003t0001g0296 a0002c0003t0001g0297 a0006c0006t0004g0273	241	464	0.5194	-1491	c.33 others(11): Show c.3363_*4853del		UCMA	ENSG00000165623.10	transcript	ENST00000378681.8	protein_coding					4516		chr10	TogoVar
DOLPP1_chr9_129076111_129095438	129078226	GCTCTGCT others(1482): Show GCTCTGCTGCCCAGGCTGAAGTGTAGCGGCAGGATCACAGCTCACTGTAG CCTTTACCTCCCCAGCTCATGTGATCCTCCCATCTCAGCCTCCCGAGTAA CTGGGACCATAGGTGTGCACCACCATGCCTGGCTAATTTTTAAAAATTTG TTTGTAGAGATGAAGTCTTGCTGTATTGCCCAGCTAGTCCTGAACTCCTG GGCTCAAGCGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGACTACAGG TTTAGTCACGGTGCCTGCCCTGAATGTTCTATTTTAAACAAGAAAACCAA ACCAAACCCAACAACAAACCCATCCTTCAGAGCTTCCCTCTGTCCCCACC ATTAACAGTGCCCTCAAAGTTTCGGGTGGTCAGGCCCCTGTGGGCCTCCT CCCCACCACCTTACCCCTTCTTTCCCTCTTGCCCACTTCATCCAGCCACA CGCGGGCCCCAGGACACTGGCTTACACTGTTCTCTCTGCCAGGAAAACCC TCCCTGGGTAACTCCCTCTCATTTCATAGTTCCTCATCCTCATCCTCCCT CGGGAGGCTCCCAGCACTGACAGGCCTGCATTTCATGGACTTTGCTCCCA AGGCCTATTTGGGAGCGGCAATGTGGCCCAGATCATGGATGGCTGTCCTG TCCCAGGGAACTATTCTGAGAAGCTCCCGGCCCGCTCCTCACACCTCCTG CTTCTCAGAGGCTAATAATGACAGTGCCTGAGGAAACCGAGGCCAGCTGA CCCCGACGAGCCCAGGCTGGGAGTGCGCACAGCAGGGCAGTGGGCCTTCT GGGCTCTTTGGTGGGTTCTGAGTCGCCATCATCTCCGGCCACACAGGCCA GCTCACGGTCCCCGCTCTACTGGCCTGGCCACTCGCAGAAAGAGCCACTC TCAGTGGGATTTCCTGGGTAATTCTCAACTCACCTCAGGGGCGCTCGTGT CACTTATCAGACACTTGCTCTAGGTCTGGTCTGGACCAGGCTCAGGATGT ACCAGGCCCTGTCCTCATGTTGCCCAGGGTTTCTCCAGTGGTGGCTGTAA CCACCTGTATCAGAACCACCAGAGCACATAAGAATGCAGACACCTGGGCT CCAACTCAGACCTACTGGATCAACCCAGGCCCCATTGTGACCCAGGAATC TGTGTTTTCTACAGGCTGATCTCAGCACTCCATGAATCTGAGAGCCGCTG CTGACTGGGAGGGATAGGGAGCCGATTACAGTCCAGTGAGGTCAGGGCTG AGAAAGGACAGGAAATGCAACCGTGAGAGCCCAGTACTGGCCCCTCACTT GACTGTGGAAACCTGTAAGCCGAGGAGACACCTGAACCAGATTGGGCCGG GCAAAGTAGGGCAGGAGAGGCAGTACATCCCACGCAGCAAAACAGCACAT GGTGGCCAGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGC CGAGGTGGGCGGATCACGAGGTCAGGAGATCAAGACCATC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	414	0.0024	-1489	c.-29 others(11): Show c.-2905_-1417del		DOLPP1	ENSG00000167130.18	transcript	ENST00000372546.9	protein_coding					2884		chr9	TogoVar
SEC61A2_chr10_12124677_12170407	12152355	CAGGCGTG others(1482): Show CAGGCGTGAGCCACCACGCCCCGCCCAGGGCAGGAATTTTTAATGAAAAT CAGGTTATTTGGAAGCTTTCTGATCCCCAGTGTGTTCGCATTTGGTAGAA GATACGTTTCCTTAAAGAATAACTGTCAGATGTGGTGGCTCACACCTGTA ATTCCAGCACTTTGAGAGGCCGAGATGGGCAGTTCACTTGAGGTCAGGAG TTTGAGACCAGTCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAACA CAAAAATTGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGG GAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC CAACATGGTGAAACGCTGTCTCTACCAAAAATACAAAAATTAGCAGGGCG TGGTGGCAGGAGCCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCCGAACC CAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCC TGGCGACAGAGCGGGACTCCGTCTCAAAAACTAAAACAAAATAAAACGAC AAAAATTAGCCAGGCGTGGCGGTGTGTGCCTGTAATCCCAGCTACTAAGG AGGCTGAGGCAGGAGAATCGCTTGAACTCTGGAGTCGGAGTTTGCAGTGA GCCGAGGTCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTG TCTCAAAAAAAAAAAAAAAGATTAACTTTGTCTTTGTCTTTATTTGTCCA TTTACAAATCACTTGATTGGCAAATTTACAGCCCTTGGGAATTAGGGAAA GAGGCGCATTGGATGGGGAGAGATGATATTCTGGAGTCTGATTTTAGTAT CTTTCAGGGCTTAGGGTTTCTCTTCGTATGCTTTAGGCATTGTTGAGGTT ATGGACAGGCCAATTGTTGCCTTCAGTTTTGTTTCTTTACAGCATTTTCT TTCTGCAATCCAGAGTTTAGAATAATCTTGATTTTTAGAAGACACTTAGA ACTGGCATGTAGCTCGTAGAACATTATACATCAAGAAAAGCTCTCTAGTA TCTTACTTAAGGATCTATTCAGATTCCTAAGGAATCTCCACTGAGCGATT CTCAGCCAGCTAGCTACAGGATTGACTTCTTACAGAGTCAGTTATGGATT GAAATTGATATAAAATAGAGTTAAGCTATTTTGCTGTTCATTTTCAGTAT TCAGAAATCAGAAATACTTACAGTCCAAGAATGAAACAAGTGAAGTGGAT GTACACTGATTCATTTACATGAATTCTGATACACAAATATGCGTGTTATG GCTAATTCTTCTAATGTTAATATATAAAGAGGGGTGTCATGTTTGATTGT AGGTGGGCAGTGACCCATTGGTGTCTTTTCAAGGCGTTACTAACATTGAA AATATGTGGATACACTGAAGAGCTATGATTGGATCAGTGTGTTTCACCCA GAAACATAGGTTTTGAAAACTGTTTGCATGCCGTTGTGGA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	360	0.0028	-1489	c.462 others(17): Show c.462+2398_463-1931del		SEC61A2	ENSG00000065665.21	transcript	ENST00000298428.14	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOC2B_chr17_137789_186650	166733	CATGGTCT others(1481): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT CTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGT CTCACGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0230	1	339	0.0030	-1488	c.454 others(17): Show c.454-4017_454-2530del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
SCN11A_chr3_38840764_39056944	38984890	AAGACCTT others(1481): Show AAGACCTTGACTCAGAAACACATTCAAGGGCAGTGAGGAGGCCAGTGTGA CTAGAGTTGAGTGAATGAGCAAGCATAGTAGGAGATGAGGCAGAGATGTA GGCAGGGGCTGGATTATGTATGGTCACTAGGCTGCAGCAGACTATTTCAG TTTTGTGATACAATGAAAGCCACAGGAGGGCTTAAACAGAGGATGACATA TTCGGATTTTTTAAAAAAATGTCTTTCTGGCTGGCTGTCTTTTTTTTTTT TTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCG CAGTCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTTATGCCATTCTCCT GCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACTACGCCCG GCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCATCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTGCTGGCTGT CTTAAGAATCAACTGTTAGGGACAGGTGTAAAAATGAAAAGATCAGTGGG GACACTGTTGCAGGAGTGCAGGCTGGAGGTGACCATGGCTTGGGTGTGAG CTATGGCAGTGAAGATGGAGAAAGGCAGATAGATTTGTGAAACCATTTCA AGAAAAAGCTGTCTTACATAATTTGCTGATGTGGATTGTGAGGGGAAGAG TATAATCAAGGCTGAGTCTTGGATTTTGGACTGAACAACAGCATAAATGC ATTTGCCATTTGCTGGGATGGTGAAAACTAGAAGAGACATGTTGTTTAAA GTATTAGTCATCTACTGCTGTGTAAGAAATGACCTCAAAACTTAGTGGCT TAAAATAGCCATAAGTGTTTACCATCTCACAGTTTCTATGGGTCATGAAT TCCAGAATGGATTAGCTGGGTTCCTCCAGCTCATGATCTCTCCTGAGGTT GCAGTCAAGATGTTAGCTAGTTGGTCTTGGTTGGGACTAAAGGGTCTGCT TTGCAGGTGGCTCACTCATGAGGCAAGGTTGTACTGGCCATTGGTGGGAA ACTGCCATTTCTCCCTACCGGGACCTTTCCACAGTCTGTTTGAGTGTCCT ATACAAGTGATGTAAGAAAGTAAGGCAAAAGCCACAATGTCTAGCTTTGG AAGTCACACTTTTTGATTTGCACAATATCCTGTTAGTTATACAGATCAGC TGCCTTCATTGTGGGAGGAGACTACACATGGGCATGAATACTAGGAGCTG AGAATCACTAGAGGCCATTTCAATGGACCGTCACCACACCATCCACACTG CTGCCAGAAGGAAGTGCCGACAGAGCCAGCAGATGCGTCAGGGAGGCCAG TCTAATAAAGAGGAACTGAAGAATATGCAGGAATAGGAGTGGAATGATCA GTTTCAGAGAGATACAAATGGATCAAAGGGAATGATTCC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02258.hp1 HG02280.hp2 others(11): Show HG01934.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 NA19043.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0001c0012 a0001c0016 a0003c0004 a0005c0017	a0001c0001t0001 a0001c0002t0004 a0001c0002t0014 others(6): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0014 a0001c0009t0007 a0001c0011t0011 a0001c0012t0001 a0001c0016t0001 a0003c0004t0001 a0005c0017t0015	a0001c0001t0001g0207 a0001c0002t0004g0262 a0001c0002t0014g0199 others(11): Show a0001c0001t0001g0207 a0001c0002t0004g0262 a0001c0002t0014g0199 a0001c0009t0007g0200 a0001c0009t0007g0201 a0001c0009t0007g0202 a0001c0009t0007g0203 a0001c0011t0011g0258 a0001c0011t0011g0259 a0001c0012t0001g0260 a0001c0012t0001g0261 a0001c0016t0001g0263 a0003c0004t0001g0206 a0005c0017t0015g0208	14	314	0.0446	-1488	c.-27 others(21): Show c.-279-25955_-279-24468del		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29						chr3	TogoVar
D2HGDH_chr2_241729630_241773811	241766021	CCCCGGGC others(1479): Show CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAG CCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0027 a0005c0004t0027	a0005c0004t0027g0371 a0005c0004t0027g0371	1	412	0.0024	-1486	c.130 others(18): Show c.1307-1688_1307-203del		D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9						chr2	TogoVar
PRPSAP1_chr17_76304478_76358916	76339153	TCAGCACT others(1479): Show TCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTT GAGACCATTCTGGTCAACACTGTGAAACCCCGTCTCTACTAAAAATACAA AAATCAGCTGGCTGTGGTGGCACACGCCTATAATCCCAGCTACTCAGGAG GCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGC CGAGATCACGCCACTGCACTCCAGCCTGGGCAACACAGCAAGCCTCCGTC TCAAAAAAACAACAAAAAGAACCAGTTTATTGTGACAAACCTAATAACCT TCTTTATGGGCTGCACACCCACACAAAACAACACATCCAACCTGTCTTTT TTCCAAATTTTTCCTTTCTTCTTCCATCCCTATCAGCTTAAGAGACAGAG AAAATGCCAGGTGATGATATTTTTGCTTTGATGCTCTTAAACTGAACCAC TGGGAAGAGACTTGCGGCTTTTATCTCAACACCAAATACACATAAAGAAA CTTCACCATCTTCAGGAGAGGGTTCTGGTTTTCAGAAGTACCCATTTATA CCTATGTGCCTTTTTCAACAGGGAAGGTGCCTTTCCATGTTGACTTATGT AAAATTGTCATTGTTATTGTACAAGACTCTGCTACAACTCTATGAAGTGC TTCCTACTTCTTCCTTTGGCCAAAATTTCTTTTTTCTTTTAAATAAAAGC TGGGCACAGTGCCTCATGCATGTAATCCAAGCACCTCGGGAGGCCGGGGC AAGCAGATCAGCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGC AAAACCCTGTCTCTACTAAAAATACAAAATTAGCCATGCATGGTGGCATG TGCCTGTAGCCCCAGCTACTTGGGAGGGTAAGACGGTGGGTGCTGAGACA GGAGAATCACTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCGAGATCGT GCCACTGCACTCCAGCCTGTGTGACAGAGCAAGGCCTTGTCTCAAAAAAA AAAAAAAAAAAAGAATAGAGACAGGGTCTTAGTATATTGCCCAGGCTGGT CTTGAACTCCTGGCCTCAAGTGATCCTCTCACCTTGGTCTCCCAAAGTAC TAGGATTAAAGGCATGAGCCACCACACCTGACCATGGTCCAATTTCCTAA TACTCAAGATACAAGTGAGAAAAACGGTAAGTGTTTCCCAATTGGCTATT AACTAAGTCATTTCTTCATGCTTCTTTTGTCCCTTCCCTGGAAGACACTT GCACACTGATGATCCTTTGTTTGTCAAGTTCAGTCTTTACTACCCCCAGC ATCACTCTAGATTGCACGTGTTAAATACTTATATTGAGCACTCTTGGTTA CCATGTGATATCAAAGCCAAGAATTTTATAAAATTCAACTTCGTATCACA AAGGACACTAACAATATGCTGTTTCTATGCTCGACTAGTTTGAAATAACC ATGAACGGCCTCGCACGGTGGCTCGCGCCTGTAATGC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02622.hp2 HG03209.hp1 others(2): Show HG01106.hp1 HG02622.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0024 a0001c0001t0025 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025	a0001c0001t0014g0008 a0001c0001t0014g0009 a0001c0001t0014g0011 others(2): Show a0001c0001t0014g0008 a0001c0001t0014g0009 a0001c0001t0014g0011 a0001c0001t0024g0012 a0001c0001t0025g0010	5	366	0.0137	-1486	c.290 others(17): Show c.290+4032_290+5517del		PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	3/9						chr17	TogoVar
WDR53_chr3_196549177_196573554	196550808	CAAACTGA others(1479): Show CAAACTGATTGTAATTTGGAGAGGGTACATGAAATGTGAAATAATTTGGT AGGCCAGGGTGGGCGGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGG CCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTGGCCAGGC GCAGTGGCTCATACCTGCAATCCCAACACTTTGGGAGTCCGAGGTGGGTG GATTACTTGAGGTCAGGAGTTCAAGACAAGCCTGGCCAACATGGTGAAAC CCCATCTCTACTAAAAATACAAATTAGCTGGGCATGGTGGCGGGCACCTG TAATCCCAGCTACTCGGGAGGCTGAGGCACGAGAACTGCTTGAACCTGGG AGATGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCATTCCAGCCTGGG TGACAGAGTACAACTCCATCTTGAAAACAACAACAAAAAAAATTAGCCAG GTGTAGTGGCAAACCCATGTAATCCCAGCTATTCAAGAGGCTGAGGCACG AGAATTGCTTGAACCCAGGAGGCAGAGTTTGCAGTGAGCCAAGATCATGC CATTGCCCTCCAGCCTGGGTGACAGTAAGACTGTCTCAAAAAAAAAAAAA AAAAAGAAAAAAGAAATGTGAAATGAGCATGTTTAGGTGTCTGTGAGTTC AGCATTGGTTAGGAGAATGTGTAGCCCTGATAGCTGGCGTTAAAAATAAT CTGAAGAGGCTGGGTGTGGAGGCTCATGCCTGTAATCCCATCCCTTTGAG AGGCCGAGGTGGGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGGC AACATGGCAAAACTGAGTCTCTACCAAAAATACAAAAATTAGCTGGGTGT GGTGGCAGGTGCCTGTAATCCCAGCTACTCAAAAGGCTGAGGCAGGAGAA CTGTTTGAACCTGGGAGGTGTAGGTTGCAGTGAGCTGAGATCATACTACT GCACTCCAGCCTGGGTGACACAGCAAGACTTCATCTCAAAAAATAAAAAT AAATAAATAAAAATAAATAAAATAAAAATAACTTGAAGAACAAGCAAAGG GTTGGGTCTAGTTGTCAGGCAATCCTGCCACCAGTTCCCTTCAGGCTTTT TTTTCTAACCACATTTTAACTTTCTGGATCTCCTTTGATTCATTTAATAT CTTATGAGTACTGTTTGTGTTGGCTGGGAAGCCTAGGACAGGCCACACGA TATGCTCTGAAGTGAAAGAGGGTAGTCTTTGCCTTCAAGCATCTTACACT CTAATAAAAATAGAAAAGCACGTAGTTATGCCTCGGTACTCATGGGTTCC ACAGTCTGTGGAGTCAATCAACCGTGGCTCAAATGTCTTCGGGGAAGAAA AAACAACAGAACACAACTATACAACTATACAATGATAAAAAATAATACAA ATAAAAAATACAGAATACTATTTATATAGCATTTCCATTGTATTAAGGAT TATAAGTAATCGAGATGATTTAACGTTTATAGGAGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 NA19030.hp1 HG02895.hp2 HG02897.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0059 a0001c0002t0001g0039 a0001c0002t0001g0059	3	386	0.0078	-1486	c.19 others(11): Show c.1917_*3402del		WDR53	ENSG00000185798.8	transcript	ENST00000332629.7	protein_coding					3368		chr3	TogoVar
AHNAK2_chr14_104932253_104983374	104949925	GATGGACT others(1478): Show GATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGG GCATTTTGAACTTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGAC AGGTCACCCTCCAGCCGCACACTGTCCAGCTTGGCTCCTGGAGCCTCGAC GTCCACCTCCACGCTGGGCAGAGACACCTCCACGTCGGGGGCCATCACCT CCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCATCTGG GGGCCCTTGAGGGCCACTTTGGGCATCTTCAAACTGGGCATCTGCACCTT GGGGAGGTGCCCTTTGAAGCCGGCTCCCTCGGGAAGGGGGCCCTCCGGGA GTTTCACGTTCACTTGGCCAGCCTGGACCTCCAGGTCGGCGGAAGGGGAC TGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGGCT CACATCAGCTTCCACCTTCGGCTCAGACACATCCACCGAGGCCTCGATGG ACTTGCCTGGGGCCGACACCCCAAATGATGGCATCTTGAACTTGGGCATT TTGAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCGGCCAGGGACAGGTC CCCCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGGGGCCTGGACGTCCA CCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTGTCACTTCCACC TTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTATCTGGGGCCC CTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTGCACTTTGGGCA GGTGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGCCCTCTGGGAGTTTC ACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCAGAAGGGGGCTGTAT GCTCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGT CGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTG CCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAA CTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCT CCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCC ACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCACCTTGGG GTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGA GGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGC CCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTC CAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGA GGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCC TCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18959.hp1 NA18961.hp1 NA18967.hp2 others(2): Show NA18959.hp1 NA18961.hp1 NA18967.hp2 NA19000.hp2 NA19085.hp2	a0014 a0164 a0014 a0164	a0014c0009 a0164c0139 a0014c0009 a0164c0139	a0014c0009t0001 a0164c0139t0001 a0014c0009t0001 a0164c0139t0001	a0014c0009t0001g0025 a0014c0009t0001g0167 a0014c0009t0001g0171 others(1): Show a0014c0009t0001g0025 a0014c0009t0001g0167 a0014c0009t0001g0171 a0164c0139t0001g0185	5	356	0.0140	-1485	c.404 others(9): Show c.4041_5525del	p.Glu others(15): Show p.Glu1348_Ile1842del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5662/18335	4041/17388	1347/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950165	GTCCATCT others(1478): Show GTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTCAAACTGGGCA TCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCTCGGGAAGGGGG CCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACCTCCAGGTCGGC GGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGG AGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACACATCCACCGAG GCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGGCATCTTGAA CTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCGGCCA GGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGGGGCC TGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTGT CACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTA TCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTGC ACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGCCCTC TGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCAGAAG GGGGCTGTATGCTCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGGG AGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTC GATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGG GCATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGAC ATGTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGAC ATCCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTT CCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCA GGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTT GGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGA GTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGC TGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCT CATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGG ACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATT TTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTC CCCGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCA CCTCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCC TTATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0005 a0018c0017t0005	a0018c0017t0005g0008 a0018c0017t0005g0008	3	356	0.0084	-1485	c.380 others(9): Show c.3801_5285del	p.Glu others(15): Show p.Glu1267_Met1761del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5422/18335	3801/17388	1267/5795			chr14	TogoVar
CCDC146_chr7_77117615_77300204	77175055	TTCTACTT others(1478): Show TTCTACTTCTATCTGTATGTGCTTATGTAAAGCAGCACTGATTTATAAAT GTGGCCTCACTTGTCAAGGGCCAGTGTGTCAGATGCTGAACTTTTCCAAG ACTTGGAGGCTGTAAAATCATTTTTGTCTTAATGCTGTGAGCCAAAATCA AAACATTAAATTATTTCGCCTAAGCGAAATAATTGGCTCTTTGCTTTTTA CCAAGAGCCAGGCATCTCCTCCCTTCTCTTTATTTCCTGAAAATAATTAT TGTTCCAATCATTGTTAAGTAAGTCTTTGACCTGACTTAGCCAAGGGGTG GAAAAAAGGAGGCATAGGAGCATTGCATTTGGGAGGCATAAAAGGGAGAA CAAACATTGTAGGGAAACACCGAGGAAGTAAAACTACGAATCAAAATAGA ATATGAAACTAAAAGTAGAGTGTGGATGTGTACCAATCATCATGGGCAAT GATGAAGATGGATTAAGTTTGTTAATATATGACCTTTTCACGAAAACAAG TTATATATAAAACTATGAGTGGTTGTACTTCTTACAAAATATGTAATAGC AGCATTTGTGTCCAAGTTTCAGTTGCATGTCAGATTTGATGAGTATTAAG ATGTCAAGAACCTTGTGAACAATAATTTTGGACATTAAGTCTTAATCTAT TTAAAAGATAAAAGATACAGCATTTACTATGTGCCAGGCACTGTGCTAGA TGTTTATAATTATTATTGCTAAAGCTACTGAAATTCATGCCTTCAACTCC TCCTTGGTTTTGAGCACCTCCTGTGCTGGATTATGCTAGATACCATGAGA ATTTATGGACATAAAGCATAAAAAGGTTCCTATTCTTTAGAAGCATTATT TGTGAACAAGAAGATTGAAATATTAAATGTCAACAAAAGGCATATGAGGA TACAAGCAGTGTTATCAGAAGGGAAAGGGAGGCTTGACTGCTGTGGGATG AGATGGTCTAGAAAGGCTTTTAAGGCAGTAAGACATGAAAGGGTATATTG CATCCATATACACAGGGTCCACTATGAATCTGGTTTCTTCGTCCATACCC ATGTATGCACATACTTGGAATATCTTCATGTAGATGACCCCAAAGTACCT CAAACTAAACATACTCACAACTAAATCCATTATCCTTCTCCGGAACCCAA CTCTGCTCCTGGGTTCTGTCAGTTGGTTCTCTCTTGTTAATATCTCTTGA ATTTGTGTTTTCCATTCCTACCATCTCACCAGTTAGAATGCCATTTCAGT GATGAAGATGTGAAGAGAGACTGCACAGTGGCATTGGCAATGAGGAAAAA AGGAGTGAATACATTTAGGAGAGATGTTAAGGAAGTATAAAATTCTATAG ACTTAGTGTCTGAGTGGATGGAGTGGGTGAGGAAAAGATTCTAAATTGAT GCTTGGCATTCTGATTTAGGAAATCAGCCAAATTATGGCACCATACATGA GAGTTCAGAAGAAGCAACAGGTCTGAAGGGAATGTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG02027.hp2 others(17): Show HG00438.hp2 HG00558.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02523.hp1 HG02965.hp1 HG03130.hp2 HG03195.hp1 NA18943.hp1 NA18946.hp1 NA18959.hp2 NA18965.hp2 NA18985.hp2 NA18989.hp1 NA18999.hp2 NA19030.hp1 NA19063.hp1 NA19084.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0002c0009 others(3): Show a0001c0001 a0002c0002 a0002c0009 a0004c0014 a0006c0016 a0006c0034	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0009t0002 a0004c0014t0002 a0006c0016t0001 a0006c0034t0005	a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0247 others(17): Show a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0247 a0002c0002t0001g0214 a0002c0002t0001g0236 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0244 a0002c0002t0002g0237 a0002c0002t0004g0243 a0002c0009t0002g0227 a0002c0009t0002g0231 a0002c0009t0002g0232 a0002c0009t0002g0246 a0004c0014t0002g0235 a0006c0016t0001g0012 a0006c0016t0001g0013 a0006c0016t0001g0014 a0006c0016t0001g0015 a0006c0034t0005g0003	20	248	0.0807	-1485	c.156 others(17): Show c.156+7232_156+8716del		CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	2/18						chr7	TogoVar
ZNF805_chr19_57235632_57267728	57266243	TCTCCTGA others(1478): Show TCTCCTGACCTTGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGTGTGAGCCACTGCCCCGGCCCCATCATTTTTAATTCTTAAATATC TCTCAAGTATGTCCACTTCTCTCTACCACCTCTTCCTAGTCCATCCACTC ACCATCTATCATCTCAATTAGTGTCCTTTTACCCACATTTTCTCTTCAAT CCATTCTCTAAGCTGAAACCAGAGAACCATCTCAGATTTAATAGTGCTCT GCTTCGCCCTCCCTCTGCCCCCACTACGTTTCCTGAAAACTTTTTATGGC TTCAACTCTTGGGATAAAAACCAAATATGGCCAGGTGTGGTAGTTCACAA CTGTAATCTCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCC AGGTATTTGAGACCAGCCTGGGCAACAAAGTGAGACCTCATCTCTAAAAA CAACTCCCAAATCATTACACGGTCAATCCTTTGGGCTTTATCTGAGCTTT ATCTGGTCTGGGAGGTGCCTCATTTACTACCTTTCATCTTGCATAACTTA TGCCCTTTCTGTTTTCACTTTGTGTTTCCTTTTCCCACCTGCCATGGGGC TTTTCCACCACACACTTTGTCCAGTAGTGAATATTTATCCTTCATCCCAG CTACGTCATAAGCATTCTTTCATAAATATCTGTGTGTGTGTGTGCATACA CATGCATATATATTTAGGTTTGATTACTGACTCCTGACTGTCTCACCAAC TAGATTTCCAGCTTCAAAAGAGCACAGATGTTAATATGGATTTTATCCTA ATTGTTCCATGCACATAGTTCCTAGTCAGTAGTAGATATTCAGATATCTG CTAAATGGATACGTGGATGAATGGCCTTAATCATCTTGATATTTTAGGTT ACTTACCTCAGGCTTCATGATTTGCTAGAAGTACACACAAGACTCAGAAA AGCTGTTATGGTTATAGTTTATTACAATAAAAGGATATAGACCAGGATCA CCAAAGGGAAAAATCACATAGAATGAAGTCCACATGAAAGCAGGCACAAA ACTCTGGGTGTTATCTCCCATTACGGTCACATAGGGACACACTTAATTCC CCCAGCAAAGATGTGTGACAAGATGTTCACAGTATTATAATACAAGCCAG GGAAGTTCACTCAAGCATTCATTTCTGGGGTTTTTATGGAGGGTCATTTA CATAGGAATGCAGGGTCCACATAACTAGTCATAGCCATACAGCCCTTGCA AAAAGCAAACATACAGTGTGGCCCAGGGCCTCGGGCATGCAAAATCCAGC ATTCACCATGAGGAATATTGTCAGAAGCATTTGAACCACAGCAAATCCGT CTTGAATAGGGGCTGGGCAAAATGAGGCTGAGACCTGTGCTGCATTCCCA GGAAGTTAGGCATTCTAAGTCACAGGAGGAGACAGGAGTTTGGTGCAAGA CACTGCTCACAAAAACCCTGCTGATAAAACAGCTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03195.hp1 HG02109.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0059 a0001c0001t0058 a0001c0001t0059	a0001c0001t0058g0133 a0001c0001t0059g0134 a0001c0001t0058g0133 a0001c0001t0059g0134	2	400	0.0050	-1485	c.11 others(13): Show c.11541_*13025del		ZNF805	ENSG00000204524.7	transcript	ENST00000414468.3	protein_coding					3516		chr19	TogoVar
ATP2A3_chr17_3918873_3969437	3932670	GCTCAAGT others(1477): Show GCTCAAGTGATCTGCCCGCCTTGGCATCCCAGAGTGCTGGGATTATAGGC GTGAGCAGCCACACGTTTCTATTTGGTGCTGATCATAGAGAAGGGAAAAC CTCCAGAACTTTGAACCTGACTCTACCCACCCAGTGACCGAGAGGACCAA ATCCTCCTGCCAATTGTGCCACTGTTGTCGGGCCTCACCCTGCCAGATCT TAATGGCCTATCCATACATGTACACACAAACATAGGGACACACACCTCCC ACTCGGGCATGTGAATGCTTAAGACGCTTATGCGTCTACACAGAGAAGAA AATACCAACAAGATCATGTCAGGATGTTTCGGCCGGGCACGGTGGCTCAC GCCTGTATTCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGG TCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCCATCTCTACA AAAATACAAAAATTAGCCAGGCATGATGGCGGGTGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTT GCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCTGTCTCAAATAAATAAATAAATAAATATGTTTCAATGGGTCTGTT GCTCTTGCTGTAAATGCCCTGCCCAGTGCAGACCTTCTGGGTTTCACCAG CAAGCACCTGCCACACACACACAGTATTCCCCAGGTCATAGGTCTCGGTG TGGCCTCTGGAATTATTCATTAGAAGGTGCGCTGGGGTCCGGGTGCCGTG GCTCACGCCTGTGATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTC TACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCC CAGCTAATGGGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGG AGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAG AGCGAGACTCCATCTCAAACAAACAAACAAAAAAAGACAGTGCGTCGGGC TGGAGCTTCTGCCTCACAGGCACATGGGGAAGCCCTGGAGGAGCCCATTT CTACTGGTGAGGCCACTGCTGTGCCCACTCCTTCCCTTTGCCTGCCTGCC TATGTCCTATTCCCTGTGTCCTGCAAGACCCCCTTTGGTTTGGTTTTCTT TTCTTTTCTTTTTTTCTTTTTTGAGACTGCGTCTTGCTCTGTCTCCCAGG CTCGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCCGCCTCTCGGG TTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAAAACAGGCA TCCGCCACCACACCTGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTT CACCATGTTGGTCAGGCTGGTCTTGAACTCCTGAC	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02559.hp1 HG02630.hp2 others(3): Show HG01099.hp2 HG02559.hp1 HG02630.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0012t0037 a0001c0001t0001 a0001c0012t0001 a0001c0012t0037	a0001c0001t0001g0191 a0001c0001t0001g0210 a0001c0001t0001g0235 others(3): Show a0001c0001t0001g0191 a0001c0001t0001g0210 a0001c0001t0001g0235 a0001c0001t0001g0290 a0001c0012t0001g0040 a0001c0012t0037g0309	6	332	0.0181	-1484	c.261 others(19): Show c.2610+1038_2611-2237del		ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding	17/20						chr17	TogoVar
C7orf50_chr7_992006_1143247	1127634	CAGGCTGG others(1477): Show CAGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGG CTGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCCGGGCTGG AGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTG CAGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGT GGCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCA CGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCT CGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGC TCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAT CTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCA CCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGT CACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACC CGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGG CTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGG AGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTG CAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGT GGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCA CAATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCG GCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTC ATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCC CACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACC CTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCT GTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGT CACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACC CGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCG GGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGG CTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGG AGTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTG CAGTGGCGCCATCTCGGCTCATCCCACCGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01358.hp2 HG02109.hp2 others(19): Show HG01167.hp2 HG01358.hp2 HG02109.hp2 HG02257.hp1 HG02559.hp1 HG02698.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03225.hp1 HG03453.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG04228.hp2 NA18906.hp2 NA18943.hp2 NA18961.hp2 NA19043.hp1 NA19056.hp1 NA19064.hp2 NA20129.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0007 a0007c0005 a0001c0001 a0005c0007 a0007c0005	a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 others(3): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0025 a0005c0007t0008 a0007c0005t0008	a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0007g0161 others(19): Show a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0163 a0001c0001t0008g0152 a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0008g0156 a0001c0001t0008g0157 a0001c0001t0008g0166 a0001c0001t0008g0168 a0001c0001t0008g0170 a0001c0001t0008g0171 a0001c0001t0014g0158 a0001c0001t0014g0172 a0001c0001t0014g0173 a0001c0001t0014g0174 a0001c0001t0025g0165 a0005c0007t0008g0164 a0007c0005t0008g0167	22	326	0.0675	-1484	c.-1- others(14): Show c.-1-1732_-1-249del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1127635	AGGCTGGA others(1477): Show AGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGC AGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATC TCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC AATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCC TGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTG TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGC TGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCGTCACCTG	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	326	0.0031	-1484	c.-1- others(14): Show c.-1-1733_-1-250del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1127669	CCACCGTC others(1477): Show CCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTGATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTC ACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTGATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGT GCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAG TGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGC GCGATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCT CATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC CCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTCATCTCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCAC AATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTC GGCTCATCGCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC CCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCC ACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCT GGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0169 a0001c0001t0008g0169	1	326	0.0031	-1484	c.-1- others(14): Show c.-1-1767_-1-284del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1127747	GATCTCAG others(1477): Show GATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGCAGTGGCACGATC TCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCC ACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCTCACCGTCACCC GGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGC CATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCA TCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCG TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCAC CCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGG GCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGA GTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAG TGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTG GCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGC CATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCGTCACCTGGGCTGGAGTGCAGTGGCGCGATCTCAG CTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	326	0.0031	-1484	c.-1- others(14): Show c.-1-1845_-1-362del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
GALNT9_chr12_132191372_132334589	132232190	CAGAGGAG others(1477): Show CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGG GACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGA CAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACA GTGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAG TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCC TACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCCTACTGCCACACACTCCA TGGGGCGACAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGG GCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGC GACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGA CAGAGGAGACAGCGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGAGGAGAC AGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	183	0.0055	-1484	c.107 others(21): Show c.1077+14236_1077+15719del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
NELL1_chr11_20664586_21580686	21318573	TACCTCTA others(1477): Show TACCTCTATTTTTTAATATAACCAGTTTATCAATTAAACATTTATTTATC TTCTTCACTAGTGTGCAAACTCCAGAGCAGAATGCTTGTAATATATCTTA GCCTTCCCAACTTTCAACACATAGTAGGTATTCAATAAATGTTTATTAAA TAGATACAGAAATAAGTGATGGGTTAATTTTCCTAATAAGACATTTTTTC TTTCTGTTGTGTTCCTACTTTGCTTTATTTCTGCTAGGAGTAAATCAAAA TCGTTAAGAGTACTTGCCCTAGAGTCAGATGGGGTGAGTTAAAATCCCGA CTCTAGTTCTTCCGAGCTGTGTGACTAACCATAGTAAATGGCTAGGCTTT TTGTCCCTCAGTGTATTCATCTGTGAAATGGAATTACTTTATAAGGCTCT TCTTTGGATTAAATGAGGTAATACTTGTAATGAGCTTGCTTAGAACATTG TGTTACTTGTTTCTTCATTATTACTTATATGCATGTAAATATGATTCCTC AAATTAGAATATTCTAAGTAGAGCCTCGTTTAACTACTAAGAGTGACATC TCAGCAATATGTGTGTGTGTGTGTGTGTGTGTGTATATGTATGTATACAT ATTATTTTATTTTGTGTTTTTGAGACAGAGTCTTGCTATGTCACCCAGGC TGGAGTGCAGTGACATGATCTCGGCTCACTGCAACTTCCACCTTCTGGGT TCAAACAATTTGCGTGCCTCAGCCTCCCAAGTAGCTGGAATTAGAGGTGT GCACCACTATGCACGGCTAATTTTTATTTTATTATTTTTTATTTTTCAGT ACAGACAGGTTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGGCCT CAAATGATCCACCTGCCTTGACCTTCCAAAGTGCTGGGATTACAGGCATG AGCCACCATGCCCAGCTAAATTTATATATATATATATATATATATTTTTA GTAGAGACAGGTTTTTAACATGTTGATCAGGCTGGTCTTGAACTCCTGGA CTCAAGTGATCTGCCCGCCTCTGCCTTTCAAAGTGCTGGGATTACAAGCG TGTGTCACCGCGCCCAGCCGGAAACTATTCAAAAACAAACTCTTGGGCTA GGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAG GTGGATCATGAGGTCAGGAGATTGAGATCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACATTTACTGAACAGAATTGATATAGGTAAT GTGGAAGGTTCAGCTCATCAAAGCACTGATAACTGTTAAATCTGTCAGCC TTATGACCTGCTTTAGACTCTAAACTCCATGAGAGCTAGGACTGTACCTT TTTATTTGTGCCGGCTTATGAAATTCAACAAGAAGCAGAGAGTATAGGAG AGTATGAAGGCTGATGGGTGGAGGGAGAGTATAGGAATTGGGGATATACC TCAAAATCCCTGCAAAAGTGTTTATCCAGTAGATC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0080 a0001c0004t0001g0080	1	88	0.0114	-1484	c.155 others(21): Show c.1550-52277_1550-50794del		NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
USP53_chr4_119207713_119300518	119210350	ATATGCTA others(1477): Show ATATGCTAAAAACTGGTAGAAAGTATGAAATTATATAATTTTAAAAGTGT ATAGTCAGGGTTTAGTCAAATTCTTGAGCAGGGTGAACTGAAGGGTATTC TTCTGTAATTGCTAAATAAGGAAGGGAGGTAGTATAAGCCATTATTATCC ACAGTTCAAATTATTTCTCAAGGGTGGAGGTGGGGGTTACTCTGTCAGGT ACATTTGCAGAGAAATAAATATAGTACAACATAATTGTTATAAAAATAAG TCCCAAAAGGGATGACAATTTTGTCTCAGAAAGTTATGAAAAGATCCATG GAGATAAGCATTCGAGAGAGAACCAAAGGATCTTGAGAGAACCAAGAACA TAGAAAGCAAGGACTTTAGAAAGATTAATGTGGAGGAACTGGAGGAAGAA TGGCGATGAGTTTAACAGTGTGATCATGAAAGGCCCTGCCGGTGGGTAAT GAAAAATTCTTAGCAGAGAAGTATAATGATCGTATTTTCACGTTAGAAAA ATTATTAATAGAATGGAGGTTGGACTGGTGTGGGAAATAACTAGAGGATA TCTTGTGAATATTGCAATAGTACAAGGAAGATGAGTCATAAGAGATGGTG ATTACTTGAAGGACTAAGACAGTGAGAGTGGAGGGGTGGACCTGAGAGAT ACTTAAGGAAATAAGAGTCAAAATTTGATATTAGAAAAGAGGAAATGAAG GAAAAGTAACAGGGGTACTCATAGATTTCTGACTTGGGCAGTTGCGTGTC ATTTTCTGAAACAGGGAATGGAAATGGTGTAGGTTCCAGATGGGTGAAGA GGGACATGGCATCAGGAACAGATTATAGTAAAGATGTCCATGTCAATTTG GGACATATTTAAGATACTGTGTGAAATCCAAAGGATGTTGCTTAAAAATG TCCGACGTATAGATATACACCTGAGAGTTCTTGGTGCACAGGACACGTGG TAGGTAAATCCATGATGGGAAAGAGACTGCTCAAGGAGACATGGATTAAC ATTAAACAGAAACAGCAAAAGAAAATGGAGTGCTGGCGAACAGAGACCAC GCAGCGGAAAAACAGTATTTAAAGTGCACCAGAAAAGTAGCTGCAGAATG AGGAGAAAATGACATTAGAGAAACGGAGGGAAGAGTTAATGGTGTGCTCT TATTGTTTTAAAAATGCAGAGTAGGATCTTTTTTTCCCCCACCCCTCCCA AAGTTTTTAATATTTTGAGGGCAGAAACCACGGCTTTATTTCATCCTATT TCTGACAGTGCCTAGTTCAGTAAAGGGAACATAGTAAATGCTCAATAAAT TCTTAATGATTCAGCCTCAGACATTACAAACGGGTCCTATTTGTCTCCTG TATCAACGACCAATATTTCTTCCCCCTCTTTCTTCAAATAAACTTTTAGA AGTGCCTCTGGGTTTACTGAAATCCATTTTTACAATTAGTATGTTCAACT TACACCAGCTTTGGAATGAGTTCCAAAACCTTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA19001.hp1 HG00438.hp2 NA19001.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0020 a0002c0002t0001 a0002c0002t0020	a0002c0002t0001g0001 a0002c0002t0020g0190 a0002c0002t0001g0001 a0002c0002t0020g0190	2	380	0.0053	-1484	c.-34 others(11): Show c.-3464_-1981del		USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding					2362		chr4	TogoVar
OR4M2_chr15_22075527_22086610	22085127	GTGGCATG others(1476): Show GTGGCATGTATAACATGGATACACTGGACAAAGGGATGACTCATGTCCCT GGAAGGATGGAGAAGGACAGCTTGAGATTTCATCCTGCTACTTAGAATGG GGCATAATTTAAAGCTTATGAATTGTTTGCTGCTGGAATGTTCCATTTAA CATTTTTTGGACTGAAGTTGACCATGGACAACAGAAACTACAGAAAGCAA CACTGTGGGTAAGAGGGGGCTACTGTATTTAATCTAGTATTAGGCTTATT AAACTATAAAGACTACTAAGCAGACGTTGAAAACAGAGATCGTCTTCAAG GGAAAGGCAGTCAGGATAATATCTCACTGGTTTCCTTCCTTCCTTCTTTC CTTTTTTTTTCCTTTTCTTTCTTTCTTTTTTTTTTTTAAGCAGAGTCTCA CTCTGTATCCCAGGCTCCAGGGCAGTGGCTCGATCTCGGTTCATTAAAGT CTTCGCCTCCCGGGTTCAAGCAGTTCTCCTGCTTCAGCTTCTTGAGTAGC TGGGATTACAGGTCCATGCCACCATGCTCGAGTAATTTTTGTATATTTAG TACAGAAGGGGTTTTGCTATGTTGGCCAGGATGGTCTTGAACTCCTGGCC TCAAATGATACACCTGCCTCGGCCTCCCAAAGTGCTGGGACAGGCATGAG CCACGGGACCCGGCTGATCTCTTTTCCTTAACAACAAAAAAGTAAACCAG TGAAGAGTTATATTATGACAAGAGAAAAGAGTTTTTATCTCAGTGAAAAT ATAATCAAATAAGAGCATCTTCAGAGCTGGATTATACTCCTAAATGTAGT AACTAGAAATATAAAGTATCTAGAAGAAAACACAGAATAATATATTTGCT TACACAATTGGAATAAGCAATGATATCTTAAGCAGCACAAAAGCAGGTGT AATAATAAAAAGTGATCAAATGAACCTCAAAAAATTAAAAATTACTGCTC GTCAAGATACACTATCATCAAATTATTAAGGAAATCATACACTGGGAGGA AAATTTGGTCTCTCTTAATCTCCCTGTTTCTCTCTGTCTTCAAGTAAAGA AAAATCAGCAAAAAATTTGAACAGACACTCCAGAAAAGAAGATACAGAAG TGATCAGCAAGTTCACGAAAAGATGCACGTCATTACTCAGCAGGGAATGG TCCACAACACACGATCAAGTGTTCAGGCAGAGCGCTCTCCCACTACTCTG AGGAACAGAACAAAATAGCAGAGAAGGAAAAGAGGAAGGGGTTTATCAAG TGCCCCAGGAACATATAACATACTGGAGACTAGACACGTCCATAAAAATG ACTCAGTTTCCCCATTGCTTGTTAGTGCTGCCTGGTCAGTGGGCCAGATT CATCCATGGCACTAGGAAGGCAGTCAGTTCTCATCCCCTTCGGACGAATC TTTCTAGAAACTGATATAGCCAATTACCAATACATCCTCACCCTCACGTG CTCTCTCCTGGACTCCGGATGCTCTACCAACATG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(5): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00741.hp1 HG01496.hp2 HG03492.hp1 HG04184.hp1 HG04184.hp2	a0003 a0006 a0009 a0003 a0006 a0009	a0003c0004 a0006c0011 a0009c0009 a0003c0004 a0006c0011 a0009c0009	a0003c0004t0001 a0006c0011t0001 a0009c0009t0001 a0003c0004t0001 a0006c0011t0001 a0009c0009t0001	a0003c0004t0001g0000 a0006c0011t0001g0000 a0009c0009t0001g0000 a0003c0004t0001g0000 a0006c0011t0001g0000 a0009c0009t0001g0000	8	50	0.1600	-1483	c.35 others(11): Show c.3562_*5044del		OR4M2	ENSG00000274102.3	transcript	ENST00000614722.3	protein_coding					3518		chr15	TogoVar
CFAP57_chr1_43167330_43259358	43228390	TAGGCTTC others(1475): Show TAGGCTTCTGCTCCCTCCTCCATCTTCTCTAATTGTTTGTGCTGAGCCGG GATAACAGATACAAGGGTGTCAGACAGCACTGATGACCCAACTAGAAGTG CCAGAGCCATGGGGGTGCCAGTCTGCCCGGTGACGCCTGTACTCTGGTAA GCCCAGTAAAGAGCCAGGTGGAGATCAGTCCAGGGCCAGGGGGCCCAGAG AGGGTATGTCCTTGTGACAATGACTTTTTCCCTGGCTTCTGGGATGAGAA AGGATGCCCCCAGCTGACCACAGACCTGCCTCCGCTGGGCCTCCTACCAT TCTTGAGTGCTTTCAGGGCCCCAAAATGGCAGCTGTCGTCCTTTCGGGGT GCTATAACAAAATACTTTAGAAGGGATAATTTATGGCCAACAGAAATGTA TTGCTGAAAGTACTGGAAGCTGGAAAGTCTAAGACCAAGGCTCCAGCAGA TTTGGTGTCCAGGCCTGTTCCTCATAGATGGCACCTGCTATGTGTCCTCA TGTGATGGGAGGGCAAAAGGGGGCAAACAAGCTCCCTCCAGCCTCTCGTA CAAGGGCACAAATCCCATTTGTGAGGGCTCTGCCCTCGTGACCTGATCAC CTCCCAAAGACCTGACCTCCTAATCCCATCACTTTGGGGGTTAGGTTTCA CCATTGGAATTTGGGGTGGAGGGCACCAACGTTCATCAGACCATAGCAGC CTGAGAAGATGAGAGGAAGAGCAGAGGCCCCACCCACCTGGAGGGCCAGC ACACCACAGGCCCCTGGAAATCACTGCCCCCTTTCTCCTTCCTCATTTGA CACATTTGTCAGCTGCATTTCAGGTCGGGTCCGTTGTTTGCTAATGGTCA GCTTACTTTCCCCACCAGCACACCTGGGGGGACCATTCATCTTCTCTGGC AGTAACAGGGGCCAACCGTGGCCTTGATGCTCAGCAGGGAATACACTTGC ACCTTGGGAGTGATTCCAGCAGGATCCCTCCTACCTCCTTTCGCTGGTGC CAGTTGCTGTCAGGACTGATACCTGGGCCTGGGTGCTTCTGGGAGCCTCT GACCTTGGGGCTTCCCTCTGGGGGTCATAGACACCTTTGGTTCATGCACT GTGGATCTCCTGTAAAGGTCTTTTTCTCCCAGGAAGGAAGCCTCAAGCCC TTGGCTCATTTGTAGAGCTGCAACTTCTAATAACACTTCCTGATTCAGGT ACCCGCCCTCACATACTCTTTTTCCAACTTGGCTCTGATGATCCAAGGGT CCCTTTGCCCTGCCTAGGGGAGAGGTTTCCCGAGGCTTGTCGTTTTAGTT TACACTCATTTACTAGGGCAGGGTTTCTCAAGCTCAGCACTACTACTATT TTGAGGTAGGTAATTCTCTGTCATGGAGGGTCTGTCCTGTATATTGTAGG ATGTTTAGCAGCGTCCCTGGTCCCTACCTGCTAGATCCCAAAAACACCCC CTATCCAGGATGTTAAAACTAAAAAATGCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp2 others(53): Show HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00738.hp1 HG01257.hp1 HG02027.hp2 HG02080.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02738.hp2 HG03225.hp1 HG03239.hp2 HG03516.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp2 NA18967.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18984.hp2 NA18990.hp2 NA18991.hp1 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19063.hp2 NA19066.hp1 NA19070.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0010 a0016 a0019 a0020	a0001c0015 a0002c0003 a0002c0019 others(9): Show a0001c0015 a0002c0003 a0002c0019 a0002c0027 a0002c0031 a0002c0035 a0003c0002 a0005c0042 a0010c0021 a0016c0039 a0019c0030 a0020c0033	a0001c0015t0001 a0002c0003t0002 a0002c0019t0001 others(9): Show a0001c0015t0001 a0002c0003t0002 a0002c0019t0001 a0002c0027t0001 a0002c0031t0002 a0002c0035t0001 a0003c0002t0001 a0005c0042t0001 a0010c0021t0001 a0016c0039t0001 a0019c0030t0002 a0020c0033t0001	a0001c0015t0001g0103 a0001c0015t0001g0117 a0001c0015t0001g0132 others(53): Show a0001c0015t0001g0103 a0001c0015t0001g0117 a0001c0015t0001g0132 a0002c0003t0002g0270 a0002c0019t0001g0040 a0002c0019t0001g0043 a0002c0019t0001g0044 a0002c0027t0001g0077 a0002c0027t0001g0079 a0002c0031t0002g0288 a0002c0035t0001g0025 a0003c0002t0001g0005 a0003c0002t0001g0008 a0003c0002t0001g0009 a0003c0002t0001g0203 a0003c0002t0001g0205 a0003c0002t0001g0207 a0003c0002t0001g0208 a0003c0002t0001g0209 a0003c0002t0001g0210 a0003c0002t0001g0211 a0003c0002t0001g0212 a0003c0002t0001g0213 a0003c0002t0001g0214 a0003c0002t0001g0215 a0003c0002t0001g0216 a0003c0002t0001g0217 a0003c0002t0001g0218 a0003c0002t0001g0219 a0003c0002t0001g0222 a0003c0002t0001g0227 a0003c0002t0001g0230 a0003c0002t0001g0231 a0003c0002t0001g0232 a0003c0002t0001g0234 a0003c0002t0001g0235 a0003c0002t0001g0236 a0003c0002t0001g0237 a0003c0002t0001g0239 a0003c0002t0001g0241 a0003c0002t0001g0242 a0003c0002t0001g0243 a0003c0002t0001g0252 a0003c0002t0001g0253 a0003c0002t0001g0254 a0003c0002t0001g0257 a0003c0002t0001g0259 a0003c0002t0001g0260 a0003c0002t0001g0261 a0003c0002t0001g0263 a0005c0042t0001g0065 a0010c0021t0001g0005 a0010c0021t0001g0082 a0016c0039t0001g0201 a0019c0030t0002g0265 a0020c0033t0001g0240	56	308	0.1818	-1482	c.300 others(19): Show c.3009+1267_3010-2634del		CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
DEPDC1B_chr5_60591912_60705166	60651953	ATTTGAAA others(1475): Show ATTTGAAAAGAAGAGCTTTATTTCTCATAAAGGGTTTCAGCCTGTATGCT GGCCATCCCACAGGATGGGAAACAAAGCCTCCAACAGCAGCTGAGAGCAA GCACTTTGAGGGAGGGGTAAAGGGAACAGGAATTTATGCTGAGTGAGGTA GCCAAATATGCATATTTAATAAGCTAAAGGAAGAGTCATGAATATTTATG AAAGAAGAAATATGCACATGTGCAATTGCGCTTCATGCACCTTTCATGGG TTGCATGTTCAAAAAATGGTGGCATTAGCATGATCTGAAAATGGAGTTTT CAGCCCACTGATGTCAAAAGATGAAGCAGAGGACACAAAACCATCACCGT GTATCCTCCACCAGTCAGCCAAAACCGGTCTGGAGATGGTGGTCAGTTTT TAGCAAGGGATGTATTGTGAAATTGCAAAAAAAGTAGGAAGAGTCCAGTC ACAGCCTCAGATGATTGGCTTAAGATGATAAAGCAATGAGTCATCTGTTT CTTGTTCTCCAGAGCTGGTTTCTGTTTATTTCTTAGGAAAGAAATCTGGT TAAAGGTTACTAAGGAAGGGACATACTGAGGCTTGTCCAACCCCCTATCC CATCATGGCTAGGAACTCAGTTTATAAGGTTTCTTTTTTGTAGAATCCTT TTTATTTATTTATTATTTCAATAAGTCTTGAGGGACAGGTGGTGTTTGGT TACATGAATAAGTTCTTCAGTGATGATTTCTGAGATTTTGGTGCACCCAT CACCCGAGCAGTGTATACTGTAACCAATGTATAGTCTTTTATCCCTCATC ACCCTCCCACCCATTCCCCAAGTCCCTAAAGTCTATCATATCATTCTTAT GCCTTTGCATCCTCATAGCTTAGCTCCCACTTATAAGTGAGGACACGCAA TGTTTGGTTTTTTATTCCTGAGTTACTTCACTTAGAATAATGGTCTCCAA TTTCATCCAGATTGCTGCAAATGTCATTATTTTGTTCCTTTTTATGGTGG AGTAGTATTCTATGGTGTATATTTATACACACCATATTTTCTTTATCCAC TCATTGATTAATGGGCATTTGGGCTGGTTCCATATTTTTGCAACTGCAAA TTGTGCTGCTATAAACATGTGTGTGCAAGTGTCTTTTTCGTATAATGACT TCCTTTCCTCTGGGTCGATACCCAGTTGTGGGATTGCTGGATCAAATGGC AGATTTACTTTAAGTTCTTTAAGGAATCTCCATCCACACTGTTTTCCATA GTTGTACTAGTTTACATTCCCACCAGCAGTCTAAACGTGTTCCTTTTTTG CCACATCCATTTCAACATCTTTTTATTTTTAATGGTCATTCTTGCAGGAG TACAGTGGTATCACATTGCGGTTTTGATTTGCATTTCCCTCATCGTTAGT AATGTTGACCATTTTTTCATGTGTTTGTGGGCCATTCGCATATCTTTTTT TGAGAATTGTCTACTCATGTCCTTAGCCCACTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00544.hp1 others(46): Show HG00099.hp2 HG00408.hp1 HG00544.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02293.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp2 NA18954.hp1 NA18974.hp2 NA18999.hp1 NA19000.hp2 NA19057.hp2 NA19058.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063	49	292	0.1678	-1482	c.315 others(17): Show c.315-5902_315-4421del		DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10						chr5	TogoVar
FBXL7_chr5_15495180_15944793	15719358	AGCATCTC others(1475): Show AGCATCTCTGATGTTTCTGATATCATGCTAAGTGACCTATTTATAATATT ATTTGATACAAACAAGATATCCTATAAGACAGTTATTGTCTTATTTTACA AAGAAGGGAAATTTTACAGCTAAATTAGCAAGTGATCGCCAGTCTGGGAA TAAAGTCTTGCTCCTGACACTACAATATATGAAGGACAATTAGTTTTCTT TATTCCATCATCCATTTAAGAATTGTGACAGATAGCATACAGAAAACAAT CAAATAGATTGAAACAAATTCCTGTGAGGGTGGCAATTTTATTACTTTTC TCGAACAGCTGGTTAGTTCTTTTGTGAGTGTGTTTATCTTTCTAAAATCT TTACAAGGACGGCACTTATTTGTCAATTAAAATCTGTATGGCTGACTAAA GGAAACATCAGACATTCTGTAGGAATCATTAAGGTCAAGGTAGCTTGCCA TGATTTAGGCCTCAGATCAATAAAACATTCAGCTAAGTTCTCAAAGAGCG ACCTTGGAAAGGAGAGAGAACAACCATGAAAGACATTTGGAAGTAATAAG GCCAATCAGCTGATAGCCATTCACTGACTTGTAGAGACTTGCCAGGAGAG AAGTCTGCGTATTCCCTATCAGTAGCTACTGCATCCTGTCTGTTCAACAA GATCACCAGTTCTGTGCCAGCCATTGGGCTGTGAGCCGAAGTCATTCAAA GGAATGGCCACAATTGCCTGCATGTCTAAATTTGCAATCTTGGTTGAATT GCTGTGCGTAAAATAGGATGTTAGCAATAAACCATAATACCAACAAACAG TAAACCAGTCATTCATTAGCAATCATGACTATTAGCATTATCTTCTGAGT ATAGTTGTAATGAGCCCACATTATGGATGCCCCTGGGACATTTTCCTTGC AGTCTTCTTTTGGGTTTTTCTCTGAAAACATTATTCAAGGATCAGGTGGA AGAGGATAGTGGAAAGGACTGAGGGTAAATTATACAACCAATTAGAAACT TCCACACTGTCAACTTTCAGCTTTCATTATATTTATCTTGGATGACTGAG TAAATTACTTGGCTTTTCTCCATTCTTAAAATGTCATATAAAACCATATT GTGCCTGATTACCTGATTCACTTTATTATAAGCCCTTGGAAGCATGCATA CTGGTTGTAAATATCATTGAATAACTTACTAAAACTTTATGTGTTTAAAT TGTATCTAATTTTGCATTTATACCTAGCTAATTTTATTTCTGTCCCCATT TATTAACTTGAGCAATACTCACCATCTGAAATATGTTGGCCAATAATTAT TTCTTCTAATATGGCCCACATATTAGAAGAAATATGTAACAGCTTTGTAA CAATGACATCATCAGCTACCATATGTATTAGACTGTTTCCTTTCAAACTG GTTTACTGAAAAGAGTATAATATGATGATAAATATTATCATTATTAGAGT ATAATATTATTATTATATTGTATAAGAACATAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01074.hp1 HG01109.hp2 others(12): Show HG00609.hp1 HG01074.hp1 HG01109.hp2 HG01175.hp2 HG01361.hp1 HG01978.hp2 HG02080.hp1 HG02258.hp1 HG02572.hp2 HG02886.hp2 HG02922.hp2 HG04115.hp2 NA18979.hp2 NA19000.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0005t0003 a0001c0005t0011 a0002c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0055 others(12): Show a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0002g0074 a0001c0001t0004g0018 a0001c0001t0015g0053 a0001c0001t0016g0115 a0001c0005t0003g0113 a0001c0005t0011g0105 a0002c0003t0001g0059 a0002c0003t0001g0107	15	122	0.1230	-1482	c.127 others(21): Show c.127+103287_127+104768del		FBXL7	ENSG00000183580.10	transcript	ENST00000504595.2	protein_coding	2/3						chr5	TogoVar
GRM7_chr3_6856115_7746533	7358949	CTCTACTA others(1475): Show CTCTACTAAAAATACCCAAACTTACCTGGGCGAGGTGGCACAAGCCTATA ATCCCAGCTACTCTGGAAGCTGAGACAGGAGGATCACTTGAACCAGGAAG TTGTGGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGAGTGATAGAGT GAGATTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAAGAAAGGAATTGCC TTAGGTCTAGGTCTATGTATTTTATTTTAAAATAACTTCTTTGCCTTTAC CATTTGGTAGGGTGTTTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTTGTGGTTTTATACTCAGGTTTTCCCTTTCATTAGGCACCTCAC AAAAAGTAACTGAATCCTATTCACCCCTCCTCCTCTTTTTTTTTTTTTTT TTTTTGAGACAGTCTTGCTCTGTTGCCCATGGCTGGAGTGCAGTGGCACA ATTTCGGCTCACTGCAACCTCCGTCTTCTGGGTTCAAGCGATTCTCCTGC CTCAGTCTCCCGAGTATCTGGGATTACAGGAGTGTGCCAGAATGCCTGGG TAAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCT GGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGACTCCCAAAG TGTTGGGATTACCCAAAGCGCTGAGCCACCATGCCAGGTCAATCCTATTC CCTTTAAATGTCTCTATCTAAGGAACAGACTTTTCTGTTCTCTTTCATTT TTGTGATCCAGTGTTTTAAAGTTTACTCTGTATTATTGTAAATGAGTATA GCACATGGCACATGATAGGTGTGCAGAAAACGTTTGTGGAATTGTATTGA GCAAAGTATAAACTTAATGTTAAGCAAAGTGCTTACACCGACAATTCTTG TTTTCTCATTATCGGTCATTTCATTTTAGGAATTGGGTCTCAAACAGATT GTTCTTGAGGTTTCTAATTACTGAGAAGCAAATTAGTCAGCAGGATAAGT AAAGACTATTAGTTACTAAGCTTTTTAGGAGACATAAGTTACCAGCAAAA GTTTGCTATTGATAGAGAAATGTTTTACCATGATTATTTCACTCTGATTT TAGGGAAAACTCATTTTTATCCTGAAATATCAAATTTGCAATTTGGCAAG CATAAGGGTATCTCTTTCTCCCCCCCTTTTTTTTCCCTCTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGAAAGAAAATGTGTGTAGAGAGAGAA TAATGACTAAATGGGTCTTTGAATAAACCTAAATTTGTTTATTCGCAAGC CATTTTTATTAGGAAATAGAGTATCAGCAAATATGCAGAAAATTGAAATC TATGATTTAAAAAGTCTTTTTTAATTTGGACTTTTAAAGAAGGAAGACAA TTAAAATTAGTAAAAAGTCATAAAAACGTATTCTCTAAGGAAATGAAACA TGGCAAATAATTACCTTTTGAACTATAATGCAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02559.hp1 others(4): Show HG02109.hp1 HG02258.hp2 HG02559.hp1 HG02895.hp2 HG03471.hp1 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0008t0002 a0001c0010t0002	a0001c0001t0001g0026 a0001c0001t0001g0070 a0001c0001t0002g0025 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0070 a0001c0001t0002g0025 a0001c0001t0005g0072 a0001c0003t0001g0037 a0001c0008t0002g0020 a0001c0010t0002g0077	7	80	0.0875	-1482	c.103 others(21): Show c.1033+52298_1033+53779del		GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	4/9						chr3	TogoVar
LRFN5_chr14_41601876_41909549	41673234	ACCTCCCA others(1475): Show ACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCGGGACGAGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGGGGGCTGACCCGCCCCCCACCTCACTGCCGGACCGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCAC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGTGACCCCCCCC ACCTCACTCCCGGATGGGGCGGCTGGCCGGGCAGGGGACTGACCCCCCCA CCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGGGGGGCTGACCCCCCCA CCTCCCTCCTGGATGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGTGGCCGGGCAGAGGCACCCTTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGTGACCCCCCCCACCTCATTCCCGGATGGGGCAGAT GGCCGGGCGGGGGGCTGAACCCCCTACCTCCCTCCCAGACAGGGCGGCTG GCCAGGTGGGGGACTGATCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CTGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGCC GGGCGGAGACGCTGCTCACTTCCCAGACGCGGTGGCTGCCGGGCAGAGAG GCTCCTCACTTCTCAGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGACGGGGTGGCTGGCCTGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGTCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGAGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCTCCACCTCTCTCCAGGACGGG GCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCTCTCCAGGACGGGG CGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGC GGTTGGCCAGGTGGGGGGCTGATCCCCCCACCTCCCTCCCGGATGGGACG GCTGGCTGGGCGGGGGGCTGACCCCCCTACCTC	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	280	0.0036	-1482	c.-19 others(21): Show c.-197+64679_-197+66160del		LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
ASMT_chrX_1610059_1648081	1637082	TGAGATAA others(1474): Show TGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT GCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCC CAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATG GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACG AGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCC TGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCT GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG TGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA CATGAGGATGTGGGCACAGCCTCTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	223	0.0045	-1481	c.910 others(16): Show c.910+525_910+2005del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCGF3_chr4_700832_775089	744873	CGGGGTCG others(1474): Show CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG02896.hp2 others(1): Show HG01891.hp1 HG02622.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0004 a0001c0001t0019	a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0019g0357 others(1): Show a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0019g0357 a0001c0001t0019g0358	4	366	0.0109	-1481	c.462 others(16): Show c.462+242_462+1722del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PPP2R5A_chr1_212280410_212366853	212297793	CAAGATGA others(1474): Show CAAGATGAAGTGAATTGTTTTTTTTTTTTTTTCTTTTTTATTTTTATTGA TCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACA ATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTT TTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGT ACTTAAGATTAGGGAGTGGTGATGACTCTCAACGAGCATGCTGCCCTCAA GCATCTGTTCAACAAAGCACATCTTGCACCGCCCTTAATCCATCTAACCC TGAGTGGACACAGCACATGTCTCAGAGAGCACAGGGTTGGGGATAAGGTC CACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACA AAATGAAAAGTCTCCCATGTCTACTTCTATCCACACAGACCCAGCAACCA TCCGATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAA ACCGCCATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCTC CCAGACGGGGTCGTGGCCGGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGG CGGCCCGGCAGAAGTGCCCCTCACCTCCCAGATGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGCCAGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCTGGATAGGGCGGCTGGCCGGGCGGGGGGCTGTTCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCA GGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGTGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCT CCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTC CCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGC CGACACCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCTGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGAC GGGGTGGTTGCCAGACGGAGGGGCTCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0002t0002 a0001c0002t0006 a0001c0002t0013 a0001c0002t0014 a0001c0003t0005 a0001c0003t0008 a0001c0004t0002 a0001c0006t0001 a0002c0005t0008	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(220): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0004g0014 a0001c0001t0004g0025 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0004g0359 a0001c0001t0004g0360 a0001c0001t0004g0361 a0001c0001t0004g0362 a0001c0001t0004g0363 a0001c0001t0004g0364 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0337 a0001c0001t0005g0338 a0001c0001t0005g0345 a0001c0001t0005g0346 a0001c0001t0005g0347 a0001c0001t0007g0007 a0001c0001t0007g0205 a0001c0001t0007g0207 a0001c0001t0007g0209 a0001c0001t0007g0210 a0001c0001t0009g0012 a0001c0001t0010g0326 a0001c0001t0010g0327 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0006g0026 a0001c0002t0006g0027 a0001c0002t0006g0028 a0001c0002t0006g0029 a0001c0002t0006g0030 a0001c0002t0006g0031 a0001c0002t0006g0032 a0001c0002t0006g0109 a0001c0002t0006g0348 a0001c0002t0013g0116 a0001c0002t0014g0106 a0001c0003t0005g0015 a0001c0003t0005g0365 a0001c0003t0005g0366 a0001c0003t0005g0367 a0001c0003t0005g0368 a0001c0003t0005g0369 a0001c0003t0008g0128 a0001c0004t0002g0051 a0001c0004t0002g0079 a0001c0004t0002g0089 a0001c0004t0002g0090 a0001c0006t0001g0324 a0002c0005t0008g0018 a0002c0005t0008g0019	236	384	0.6146	-1481	c.181 others(19): Show c.181+11521_181+13001del		PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC77_chr12_396644_447642	419504	CTGTGTGT others(1473): Show CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCT CCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTG TGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCC ATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA AATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGT TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC ACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCATT ACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACA TAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATA GCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGT GCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAG CACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGT GAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTC TTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCAC CCTCCATGCTCCATTACAGTGCACTTCTGTG	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	432	0.0023	-1480	c.413 others(16): Show c.413+877_413+2356del		CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
FGL1_chr8_17859389_17900524	17893427	TATTATAT others(1473): Show TATTATATATACATTATATAAGGTATATAAATATTGCTTAGCATTAGATT TAGTAAAAAATAAAGGGCTAATGAAATTTTTTTGACAGGCCTCTGTCTCT TGATGTCCTGAAATGTTTATCTCACTACCATTAAGATAATCCAATAATCA AAAAGGCACCCCCTAGTCTGGTAGCATATAAACAATAAAGCATTTCAAAA TGTAATTATTTACATTTAGAAAGTCATTATATTACTTTGATTAGCTTTAG AATAATTCCTGAGAATATCTTAAGTTCTCTAAAATTTTCCATTTTCCTCC TTTGCAATTCTAACCAACATTCTCTGTAATATTGAAGAAATGCTAAGCAT TAAGAAACTTGCTTTGAAATTCTGGTCTCCATCATTCATTATAGTAAACC ATTATTTCTTCTGCACATCTGGCTTACAGTAAAGTTGTATCAAATTATTC TGTTCATTTATTGCACAATTAGTTGTATTTCTTTTATAATATTTTTGCCT TAGGCAGTATCAAAACTTTTAATTATTATAAAATTAAAATTGTTATCAAA TGGCTGTTCTTTGGTGGACTATATTATTTTACATAATTTTAATGCTATAA ATTCTAATTCCTTCCCCACTATATTTAAAAAAAATTTAATTAATTACGCT GCATTAAATTTAAAGATGAAGACATTAAATTTGTAAATGAAAAGTTCTAA AAATAATATATAATTTTTAAAAACAATTACAAAACAGAAGTACATTAGTA GCATGCAAACATTTCAAAACTGGTATGTTTTAAGCAAGCATTGTAAAAGG ATATATAAAAGAAATAAAAAGGAAGGAAAAAGTTATTGAACGAAGTATGT TTAATAAGTTAGCATTCACAAACGCTATAGGACTATAATGCTTAGGACTA TAACCTAAGTCAGTGAGTTAAAAATGTACCCATAAACACAAGCTTAGAGA CTCCTTTTAAGCTATTTCCTTCCAAATTTTTTCCTCTTTCTGAAAATGGA ATATAACTGTGCTTTTGTATTTTTCTTAAGAATCCATACTCACTGAAAGC CTTACAAAGCTAAATATAGTTGATCCCTCAAGAAATGCAATAAAGAAAAA TGTTTCTGAAGTTTTTTGACTTCTGAAGTGAAAATTGTCATATAGTCCAT TTTATTTTTAATTTTTTATACTGAAACTGTAAACCTATCATTTACGTCAA ACTCCCATGCAATTCATTCAAAATGTAAAGGAAATTATACAAAGTGAGAC TCCATCTCAAAAAACCAACAAACAAACGACAACAACAAAAAACGCCTAGA GCTTAAAAAAGAAATTTTCTTATTCCAATGTTTGATTCTGGCTCTTGCAT AAATGGAAGTATGTTTTGAAAATGCTCTGGGTGATGCACCTATATATCAT ATAATTTTACCTGCGCACACTGTATATATATGTATATGTATGTACGTAAC ATTATTATACATAATTATGTATATATTATAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp1 HG01169.hp2 others(36): Show HG00140.hp1 HG01167.hp1 HG01169.hp2 HG01261.hp2 HG01891.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG04115.hp2 NA18522.hp1 NA18906.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0003 a0004 a0010 others(2): Show a0003 a0004 a0010 a0011 a0012	a0003c0003 a0004c0004 a0010c0010 others(2): Show a0003c0003 a0004c0004 a0010c0010 a0011c0014 a0012c0015	a0003c0003t0001 a0004c0004t0001 a0010c0010t0001 others(2): Show a0003c0003t0001 a0004c0004t0001 a0010c0010t0001 a0011c0014t0001 a0012c0015t0001	a0003c0003t0001g0275 a0003c0003t0001g0277 a0003c0003t0001g0278 others(36): Show a0003c0003t0001g0275 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0306 a0003c0003t0001g0308 a0003c0003t0001g0309 a0003c0003t0001g0310 a0003c0003t0001g0313 a0004c0004t0001g0276 a0004c0004t0001g0303 a0004c0004t0001g0304 a0004c0004t0001g0305 a0004c0004t0001g0311 a0004c0004t0001g0312 a0010c0010t0001g0302 a0010c0010t0001g0307 a0011c0014t0001g0301 a0012c0015t0001g0298	39	366	0.1066	-1480	c.-18 others(16): Show c.-18+540_-18+2019del		FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	1/7						chr8	TogoVar
IL21R_chr16_27397174_27457042	27434546	TCCGCCTT others(1473): Show TCCGCCTTTCAGACAACCACTCAGGGCTCACAGGACTTGAAAAGTCAGGA GCCCGCAGGGTTGGTCTATCCACCAGCTTCAAAGGCCACTCTCTCACCCA CACAGGTCGGCCATGGTTTTGAGACCCCGGGATGGCTGGTTTCCCGCATG ATTTTTCAAGCACTTAGGTACCAGGCCCCCAACTACACGCTTCCCATGAA TGGTCACCCCCAACCCTCACAATGATTACTCCCATTTTACAGATGAGGAC ATTGAGGTTCAGAGAGGTTAAGCAACTTGCCTAAGGTCACACAGCCAGTG AATGCTGGAGCTGGGATTCAAATTCAGACCGCCCAACTCCAAAGTCCATG GGTCCCTTTTAGACCCTATGCAGCTCAGGATAAAGAAGAGCTTCTGTTAT CCATCAGCTCATTCATTCATTCAAAACCATTTATAGGCCAGGTGCAGTGG CTCATGTTTCTAACCCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCACT TGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATCACAAAACCCTGTCT CTACAAAAAATAAATCAGTCGGGCGTGGTGGCACAATCCTGTAATCCCAG CTACTTGAGAGTCTAAGGCAGGGGGACCAAGCTCAGGAGGTCGAGGCTGC AGTGAGCTATGATCACGCCACTGCACTCCAGCCTGGGCAAAAAAGCAAGA TCCCAACTCAAAAACAAAACAAAACAAAACAAAACATGTATTAAGTTCCT GCCAGACACTGTTGCAGGCACTGGGGATTCAGCAGAGCAAGACTGACCAG GCCCCAGATGCCTTGGAACTGACGTACCACGGTGGGGCGGAGGCTGGGGG AGACAGACACACAAAACAACCAACAAGGTGCTTTCTCTTTTTTATTTTAT TTTATTTTATTTTATTTTATTTTTTTGAGACAGGGTCTTGCTCTGTTGCC CAGGCTGGAGTGCAGTGGTGGGATCAGAACTCACTGTAGCCTTGACCTCC TGGGCTCAAGCAATCCCTCCACCTAAGCCTCCTGAGTAGCTGGGACTACA GGCATGCATCACCATACCTGGATAATTTTTGTAGTTTTTGTAAAGACAGG GTTTTGCCATGTTACCCAGGCTGGATTCAAACTCCTGGGCTCAAGCAATC TGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAT GCCAGGCCCAAACAGGACACTTTCTTTCTTTCTTTTTTTTGGAGACGGAG TCTCACTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCGGCTCACT GCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAACCTCCCAA GTATCTGGGATTGCATCCAGGTGTGCACCACCATGCCTGGCTAATTTTTG TATTTTAAGTAGAGACAGGGTTTTGTCATGTTAGCCCACCTGGTCTCGAA CTCCTGGCCTCAAGTGATCCGCCCACTGTAC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19072.hp1 NA18974.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0292 a0001c0001t0001g0241 a0001c0001t0001g0292	2	372	0.0054	-1480	c.152 others(16): Show c.152+181_153-1379del		IL21R	ENSG00000103522.17	transcript	ENST00000337929.8	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
INPP4B_chr4_142018160_142851301	142773840	ATTGATCT others(1473): Show ATTGATCTAGATTTTTGGAGAGTAAGAGCCATCTGTTCCCATGGATAACA GTAGCGCTGCCTTCCAAAAGTTATTCCTATTCACTGGAATTGGCCTCAAG CATCATTTTACCAGATAGTATTTAAAACTGAGATGATAACATCCAATATT AAAACCATGGTGGGTTTTATGTCTTAATTTTGTTGCCTTTAACTTTTTGT TAGTTTTCTTAAGAGAAAAGAAGAGTGCATGTACATAAATAAAATGTCAG AGGCTTTTCTTTAATCCTTTCCAAACAGTGCTCAACAATTATTTCTCCCT TTCTATCCAGACTGTGTAATTCCAAAATGATCAGAGAAAAACTTGCCATC TGGATGTCATAAGTAAATAACTTGTTTCTGAGGCCTGCCTGGAGCTGTCT GAACCAGTGCAATCATGGAGGTGTTGGCTAACGCACCTGAGATGAAGACA CCTTCGGGCTTATTCTTGTACAACTGTTCTTCACTATGACATTTCTTTAG CATATGTCTGAAGATCATTAAAAGGTAGTGCTGCAATCCTCTCCAAAGGC AGGTGAGTTATATTTGGACAGCTTAATAATCATAAAATTATTCTTTCAAT CTAAGTTGAAATCTGCTCCCATGGAACTTTGATCAATTTGTTCTTTTTCT GCCACTGGAAACTAAAGTGAGCATGATCCCTTTACATACAACATCTAAAA TATTTGAAGGCAGTAATTATAAGTAATTCACCTACAACAACTTCATAAAC ACTTATTTGATTATAAGTACTTCATCAATATTATCTCTTTCATTTTTTAA TCATCTGTTCCATTTACAAGTTACCAGAGTTATTTATTGATTTTGTCTTC TGCACATCATGTTTGTCTCTTTTTTAAATGAGTTCCCTATTTTGAAACTG TTTTAGACTTACAGAAAAATTGCAAAAATAGGGCAGAATTCCCATATACC TTGCACATGCAGTTTCTCTTATTATTAACCTCTTACATTAGTACAGTATA TTTGTCACAATTAGTGAACCTATATTGATATAATATATTAACTAAAGTTC ATACTTTACTTAGATTTCCTTAGTTTTTAATGTCCAGATTTCATCTAGCT ATTTCATTAGGCTCCTCTTTACTGTGACAGTTTCTCAGGGTTCCTTGTCT TTTATGACCTTGATACTTTTGAGGAATACTGGTCAAGTATTTTGTAGAAT GTCTTTCAACAGAAATTTGTCTGATGATTTTCTTATAATTAAACTGGGGT TATAGGCTTATGGAAGTAAACCAATGGTAAAAATGCTATTTTCATCATAC TGTATCAAGGGAACATACCATGAACATGATTTATCACTGTTGATGGTGAC CTTGATCATTCAGTGAGACAGTGGTTGTCAGGATTCTCCTTTGTAAAGTT ACTCTCCTCCATGCATTCTTCTTTACTGTACTCTTGAACCAATGTCATTA TACAGAGCACAGTTAAAGAATGGATAGTTAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp1 HG02258.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0002g0021 a0001c0001t0001g0022 a0001c0001t0002g0021	2	90	0.0222	-1480	c.-25 others(21): Show c.-253-49419_-253-47940del		INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	1/25						chr4	TogoVar
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(1473): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0130 a0001c0003t0029g0130	1	366	0.0027	-1480	c.462 others(16): Show c.462+299_462+1778del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746094	TCCGTGGA others(1473): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCG CTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGTCGCTGCAGTGTTAGTGTTCG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	366	0.0027	-1480	c.462 others(17): Show c.462+1463_462+2942del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
YBEY_chr21_46281342_46302751	46292548	ACAGCCAC others(1473): Show ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	404	0.0025	-1480	c.339 others(17): Show c.339+1094_340-2127del		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
DDX51_chr12_132131594_132149319	132134721	CCCGAGTG others(1471): Show CCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCT CCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCC GAGTGTGCCCACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTC CCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTG TGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGT GCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA CCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTG CCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTC CTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCG CTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCG AGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGC CCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACC TCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA19064.hp2 NA18995.hp2 NA19064.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0014 a0005c0007t0014	a0005c0007t0014g0032 a0005c0007t0014g0032	2	334	0.0060	-1478	c.30 others(11): Show c.3073_*4550del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1872		chr12	TogoVar
GALNTL6_chr4_171808404_173046559	171883673	AGTCTCGC others(1471): Show AGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGCTATCTCAGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCTGCCACCACACCTGGCTAATTTTTTGT ATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGGTGGTCTCAATC TCCTAACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCTCCCAGACATATATGTGCTTTTCTTAGAAGTCAT CAATGTTCAATCTCTCACAAAAATGTGTAAACATTTATAAACCCATTTAT ATTTACATAGAATCCATATTTCTGTTATAGTAACATATTTTACAAACTAT TTTCTCTCTCGAAAAGTTGCAGTTAGCTTTATTTACAGTTATTTCTTTGA CAGATGAATTCCTCCTTGCCTCTCAACTGAAACCTGTCTGAGGCCACAGT GACCTCCTGAATTACCAAATCTTTGCCTTTTTTCTTTCATGTCATTTAGC TTTGCTATTATCTATGGCCAAATATTTTTCCTAAAGCATTGAAAGATCTC ATGCTTAGACTCAACATTTTTTAATAGGAAGAATAAAGAAAAGTAGTATT TATTACCGACTATGTTTCAGGCCTCCTTTTAAGTTCTTTACATGCATTAA CTCATTTGTTCTTCAAAATAATCTAATGTAGTAGATAATATTAGATACTG TTATTATCATCTTAGAGAAAACAGGCACAAGAAGCTTAGTGTCATGCTCA AAGCTTTGCAGTACATAAATAATGCAGACAAATTACTTAAATTTAAGATA TATACATATATAGTATATATAACTATATATGTAGTTGTCTGTTGGAGTCA GTCTGTTGAAGATATACATATTCATTTCAAATTATATATAAAAATATGAT ATACATGTATATACATGTAGACACACACAGTTGCAGACAACAAAGAACAT TTTGGGTCATTTGTGGTAACTAGGAAATAACTGTTAATGACAAAAGACAG CTAATGTATTTAACAATAAAAGAATTTATCTGTGCAAGAATGTGTTGTTT AGGCTGGGCACAGTGGCTCATGCATGTAATCCTAGCACTTTGGGAGGCTG AGGCAGGCTGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACA TGGTGAAACTCTATCTCTACTAAAAATACAAAAAATTAGCTGAGTGTGGT GGTGGGTGTCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATTG CTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCTGCTGCA CTCCAGCCTGGGCAACAGAGTGAGACTCTACCTCAAAAAAAAAGAAAAGA AAAGAAAAAGAATGTGTTATTTAGTGTAAAATTAAAATACAGATTTGGGG ATTTGGGGACCCTTGTGTATAATTACATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	40	0.0250	-1478	c.138 others(19): Show c.138+68963_138+70440del		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745102	CGGGGTCG others(1471): Show CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0337 a0001c0001t0012g0337	1	366	0.0027	-1478	c.462 others(16): Show c.462+475_462+1952del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CNOT2_chr12_70238433_70359993	70348464	TAGGTGAT others(1470): Show TAGGTGATGCTACAGGAGTCAAAAACATCTTTGGAAGAAGAAAAAAATTT TATTAGGAAAGAACTGAAGTTTTCTCCATTCAATTTGAACATTTTTGCTC AATATTATTGTAAATTATTCCAAACTTACATATGTAAAAAGGGGTGGATA TTTTCAGTAAACAGCTACATAATTTTAGTTAAATTTTGTTAGATATATGT ATGAAGAAATCAATTTGTGAGAAAATCAGCTTTCCAGAATTAAGTTCTCC TCATGAAGTTAAATATTTAGAAAACAATGTTAACATTAATGTAGGACTCC TTTAATTTCCAGCAAAAGCAATTCCTCAGTCAGGTAAATGTCATTTTAAA GAAAATTGTATCTATTTAAATATGGATTTACATATTTTTTATATATTATA TATAAAACATAATTTAGCTCAGTTTTATCTATCGTGTACAGTTGAGCTTT TGTCTTTATCTTTAAATTTTTTAACTGTGATGTGAAAAATGTGAGAAATA ATATCATTAAGTTACTCCCTCAGAAATCTCTTTCAAGGTAATAGTTTGTT GGTACCTTGCACTGACACGCTTTAAAATTATTTTCATAGTAATGAAAACA GGCAGAATTGTTGGTATTAAGATATTAATGAGCAGCTCACTCTTGGTTAT ATTAAAATACAAATTCATGCACTTAAAATTTTGAAGTTGCAGTATATTAA CGGGATAAATTTTTCAAAAAATTCTTTAAAGGATGTGTTCAGTGCTTTCC CAGAATATTGATTAGTAATTAAGAAATCTGGGACCTGTTCATAAGTATAT TTATTAACAGCCTTCATCAAATTATAGAAAATCCATTAACATGTCATGTC ACAAGTTGAGTCCCCATCTGTAAAGTGGGTGTGCCTTACTATTCACAGTT AAAGAACGTATATTAAATAACCTCAATTCACTGTAAGAAGCCTACAGTAT GAATTAACATTTTAAATAATAGCTGATATTATGGTGTTCTTGAAAGGTAC TGAACTGGTCTACACCATAATCCTGGAGTCCATTCATAATATTTTATGTC CATTCATAATATTTTGTATGAGCATTTTTCCCCAAATCACTTACTATTTT CAGATAATTGTAATATTAAATAAGGGATTAGATAATCTAAACCAGAAGTA TTTCTTATCCTCTAAAAATTTTGTGACCCTGAGTTCTAGAATCCAATCCA TTATTTATTTACATAATTTCCTGTAAATAATATATACATTAAAATGTTGA CATTGGTTGGGCATGGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGA ATGAGGCAAGACGATCACTTGAAGCTGGGAGTTTAAGATCAGCCTGGGCA ACATAGCAAGACTCTGTCTCTATAGAAAGAGAGAGAGAGAGAAACATAGC CAGGTGTGGTGGTATGCTCCTGCAGTCCTAGCTACTTGGGAGGCTGAGGT AGGAGGATTGCTTGAGCCCAGGAGTTCA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0258 a0001c0004t0001g0258	1	280	0.0036	-1477	c.153 others(19): Show c.1536+2145_1536+3621del		CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PCGF3_chr4_700832_775089	758481	CCTCTCCC others(1470): Show CCTCTCCCGAGCTCTTCTCGCTCCGGACTCTGGGTCTTTCTCCCCACGCG GCCCCTCTCCCGAGTTCTCCCTCCAGACTCCGGGTCTTTCCCCGCACGGC CCCTCCCCCGAGTTCTTCTCCATCCCGACTCCAGTTCTTTCTCCCCGCGC GGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCAGGTCTTTCTCCCCG CGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCC CCTCGCGGCCCCTCTCCCGAGCTCTTCTTGCTCCGGACTCCGGGTCTTTC TCCCCGCGCGGCCCCTCTCCCGAGCTCTTCTTGCTCCGGACTCCGGGTCT TTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGG TCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCC GGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGCTCTTCTCGCTCCGGAC TCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCG GACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTT CCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTC CTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTT CTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTT GTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GCTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCC CGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTC TCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCC CTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGG CCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCG CGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCC GCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTC CCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTT CTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCTGGGTC TTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGG GTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTC CGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGA CTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCC GGACTCCGGGTCTTTCTCCCCACGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0147 a0001c0001t0060g0147	1	366	0.0027	-1477	c.463 others(17): Show c.463-2787_463-1311del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP1B2_chr17_7645926_7662770	7661294	ACTCCCAA others(1469): Show ACTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGCCTAGCC TATACTAAGTTCTCTAAAATCTGGCAAGGCAAATAGGACCCCCTCTCCAT TCTGTTGCTTATTATTTACTTATTATTTACAATTTTATTATTTATGTTAT TTTATATTATTTATTTTATTTATTGAGACAGTCTCCCGCTGTGTCGTCCA GGCTGGAGTGCAGTGGCACGATTTCAGCTTACTGCAACCTCTGCCTCCCG GTTTCAAGGGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTATAGG TATGCACTACCACGCCTGGCTAAGTTTTGTATTTTTAGTATAGACGGGGT TTTGCCATGTTGCCCAGACTGGTCCGGAACTCCTGAGCTGAAAGCGATTC ACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGTG CCCGGCCTCCAGTATTTTGTTTATTTATTTTTTTTGAGACAGAGTCTCAC TCTGTTGCACAGGCTGGAGTGCAGTGGCACAATCTCTGCTCACTGCAACC TCCTCCTCCCTGGTTAAGAGATCCTCCTGCCTCAGCCCCCTTAGTAGCTG GGATTACAGGCGTGGGCCACCACTGCCAGGCTAATTTTTGTATTTTTAGT AGAGATGGGATTTCGCTATGTTGGCCAGGCTGTCTTGAACTCCTGACCTC AGGTGATCCACCTGCCTTGGCCTAAAGAGAGAGAGAGAGACGGAGTCTCA CTTTGTCGCCAGGGTGGAGTGCAGTGACAGGATCTCGGCTCATTGCAACC TCCACCTCCCGGGTTCAAGCAACTCTCCTGCCTCAGCCTCCAGAGTAGCT GGAACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTTGTATCTTTAG TAGAGACGAGTTTTCACTATGTTGGCCAGATGGTCTCGATCTCCTGACCT CATGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTAGAGGCGTGAG CCACCATGCCTGGCCCAAATCCAGTATTTATTTAAACAACTAGTGACACT TACTCGTTCCTATACATTTATGATAAATTTACCCAACTCACACACACACA CAATGAAAATTTGGGATTCTAATTGAAATTGCATTATATTATATTTATCT CGAGATAATTGATTTTTCTTATTTTTTTAGTTTTCCCATCTGAGAATCTA TCATTTTCTTTGGATCTTGGCTTACGTCGTTAAATAAGGGTTTGTGGTCT TCTGCATACAGGCTCTGTGCCATTCCTTCTTTGTGTGTGCCATTCCTATT ACACATTTCTTAATGTTTATTGCTATTGTCTTTTTTTTTTTTTTTTTTTT GAGATGGAGCCTCACACTGTTGCCCAGGCTGGAAAGCACTGGCAGGATCT TGGCTCACTGCAATCTCTGCCTCCTGGGTTCAAGTGATTCTTCTGCTTCG ACCTCCCGAGTAGCTGGAATTACAGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-1476	c.54 others(11): Show c.5400_*6875del		ATP1B2	ENSG00000129244.9	transcript	ENST00000250111.9	protein_coding					3525		chr17	TogoVar
CD163L1_chr12_7349960_7449153	7437244	ATAGTATT others(1469): Show ATAGTATTTAAATAGTATTTAAAAGTATTACTTTTTATTTTAATAGTATT ACTTTTATTTTATTAATGAATATTATTTTTATTTTTATTTTTATTAATAT ACTTTTATATTTATTAAGTTCTAGGGTACATGTGCACAACGTGCAAGTTT GTTACATATGTATACATGTGCCGTGTTGGTGTGCTGCACCCATTAACTTA TCATTTACATTAGGTATTTCTCCTAATGCTATCCCTCCCTGCTCCCCCCA CCCCATGACAGGCCCTGATGTGTGATGTTCCCCACCCTGTGTCCAAGTGA TCTCATTGTTCAATTCCCACCTACGAGTGAGAACATGCGGTGTTTGGTTT TCTGCCCTTGTGATAGTCTGCTCAGAATGATGGTTTCCAGCTTCATCCAT GTCCCTACAAAGGGCATGAACTCATCCTTTTTTTTTTTTTTTTTGACACT GTATATTTATTTGAAAACCGGAAAATACAGGTTTGTGGCTTCAGGGAATC ACCCTTGTATACTGTGGTACATGATCAATGATCATTAAATCCTCTTCACA CAAAAGAATTTTGCTTCCTCAGTCAACCATATAATAATTCACAAAATATC AAATTCAAAACCCAACACCAGTTTTCCAACCCTCTTTTAGGAATTTTATT ATTATAAAAAAAAAAAAAGAAAATTCTAAGAAAGTTTTCCACCCATAGTC TTAACCAATCATGACTATTTTACTTCTCCATGTTCCCCCTTCTGGTCCTT GTACTTTTACATGCATAATCTTTTTTAAAATTCATTTTTGCTTACATTAC ACACATATTTTTACATGACTGTGTTCACATTTATGTAGGGTTTTTCTTCT CCACTGCATTTTCTAAGTTGTTCTATTTTGCTGTAGCACTAATGAAGATA ATACTGCCATAAATAACTATGTATGCACAGCTTTTCCTTCTTTAAAATGA TTTCCTTAAAATAAATTCCCAAAACTGGAAATAATGGATGAAAAAAATGA TGTTTTTTATAGCCCTTGATAAATATTGCATATATAAATACTCTCATAAT TTGGAAAATATATCCATTTTGCAAAGCCATATAAAAATAATTTTTATAAT GGGACAAATTCTCTATTAAATACATTTTTATAAGCATTAAAATACTGGTT AATGTAGTTTGTGTCCTATTATTTAATAGTGGTATACTCAAGACAACAGG GGAAATGACCAAGCAGGATGTGAAAAGCTAATAAAATAAGCTGATGAAGC TATAAACCTGAGTATACAATGCTCCATATATCATCTGAGTACCTCTAAAA ACCATCCTGATTTTTGCTCACAAATTAGCCTATAATTTTCTAGTCAAAAT CATTCTAAGAGAAACAAACCAGAGACTAAGAGATAAGCTGCAGTGTCCAA GAGCTGGAGGATCTTCATTTATGACCGCCCATGGTCATAAACACTTTCTC ATAGCTTGACTGTTTCCCTTTCCTTGC	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	384	0.0026	-1476	c.124 others(17): Show c.124+2434_125-3551del		CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19						chr12	TogoVar
DPH7_chr9_137549444_137583925	137565278	ACTCTGTC others(1469): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	340	0.0029	-1476	c.641 others(16): Show c.641-1600_641-125del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
IL1RAPL1_chrX_28582446_29961718	29582337	TAAAGATA others(1468): Show TAAAGATAGCATCTTTTTTTTTTTATTTTTTTATTTTTTTATTTTTATTT TTATTTTTTATTTTTTTTTATCATACTTTAAGTTTTAGGGTACATGTGCA CATTGTGCAGGTTAGTTACATATGTATACATGTGCCATACTGGTGCGCTG CACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCC TCCCCGCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTT CCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATA TGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTT TCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTAT GGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGT CTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAAT AATGCCGCAATAAACATACATGTGCATGTGTCTTTATAGCAGCATGATTT ATAGTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTA TTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGT TGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCC ACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTC TATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGC ATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCC TATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAG GAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT TGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCCAAA ATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATC AATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGA GAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAA AATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAG AACTACAAACCACTGCTCAAGGAAATAAAAGAGGACACAAACAAATGGAA GAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCA TACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCA ATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAA CCAAAAAAGAGCCCGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAG CTGGAGGCATCACACTACCTGACTTC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	135	0.0074	-1475	c.704 others(19): Show c.704-86078_704-84604del		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
DPH7_chr9_137549444_137583925	137565810	ACTCTGTC others(1467): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00280.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	2	340	0.0059	-1474	c.641 others(16): Show c.641-2130_641-657del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241806497	TCCCTCCC others(1466): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGA CCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	314	0.0032	-1473	c.23 others(11): Show c.2332_*3804del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2211		chr2	TogoVar

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