Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDCD1_chr2_241844884_241863894	241847405	TGCTGGCG others(193): Show TGCTGGCGTGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA CGCTGGCGCGCTGCGCTGTCAATGGATGAATGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGTGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03927.hp1 HG04115.hp1 HG02258.hp2 HG03927.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0006 a0001c0001t0001g0016	3	406	0.0074	-200	c.34 others(11): Show c.3453_*3652del	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2478		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241847584	ATGAGAGA others(193): Show ATGAGAGACGTGAGTTCTGGACGCTGGCGCGCTGCGCTGTCAATGGATGA ATGAAAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGT ATGAGAGCCTTGAGTTCTGGATGCTGGTGCGCTGCGCTGTCAATGGATGA ATGAGAGCCGTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(74): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG01943.hp1 HG02027.hp1 HG02071.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18969.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18981.hp1 NA18987.hp1 NA18992.hp2 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 a0001c0004t0001 a0001c0005t0010 a0001c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(23): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0009g0039 a0001c0001t0009g0106 a0001c0001t0009g0107 a0001c0001t0017g0084 a0001c0004t0001g0048 a0001c0004t0001g0052 a0001c0004t0001g0083 a0001c0004t0001g0086 a0001c0005t0010g0038 a0001c0005t0010g0099 a0001c0005t0010g0100 a0001c0006t0001g0094	77	406	0.1897	-200	c.32 others(11): Show c.3274_*3473del	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2299		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848255	TGCTGGCG others(193): Show TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCCGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(68): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01255.hp2 HG01517.hp2 HG01891.hp2 HG01975.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18961.hp2 NA18980.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA19001.hp1 NA19004.hp1 NA19010.hp1 NA19070.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0010 others(1): Show a0001c0001 a0001c0006 a0001c0010 a0001c0013	a0001c0001t0001 a0001c0006t0001 a0001c0010t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0001c0010t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0023 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0104 a0001c0006t0001g0057 a0001c0006t0001g0069 a0001c0010t0001g0079 a0001c0013t0001g0075	71	406	0.1749	-200	c.26 others(11): Show c.2603_*2802del	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1628		chr2	TogoVar
PDZD7_chr10_101002679_101036129	101025579	GCTCTGTC others(193): Show GCTCTGTCGCCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGCAA GCTCCACCTCCCAGGTTCACGCTATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATTGTTTTGATCTCCTGA C	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0009 a0003c0030t0009	a0003c0030t0009g0044 a0003c0030t0009g0044	1	430	0.0023	-200	c.227 others(17): Show c.227-1711_227-1512del	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	2/16			chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	TGTGTTTT others(193): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT A	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02572.hp2 others(5): Show HG02257.hp1 HG02559.hp2 HG02572.hp2 HG02818.hp2 HG03098.hp1 HG03471.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0079 a0001c0002t0014 a0001c0002t0039 a0001c0002t0041	a0001c0001t0002g0353 a0001c0001t0007g0350 a0001c0001t0007g0355 others(5): Show a0001c0001t0002g0353 a0001c0001t0007g0350 a0001c0001t0007g0355 a0001c0001t0013g0078 a0001c0001t0079g0354 a0001c0002t0014g0349 a0001c0002t0039g0014 a0001c0002t0041g0077	8	325	0.0246	-200	c.77- others(15): Show c.77-2913_77-2714del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210710	ATGTTAGC others(193): Show ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC G	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02083.hp2 HG02735.hp2 others(13): Show HG02074.hp2 HG02083.hp2 HG02735.hp2 HG02896.hp2 HG03017.hp1 HG03516.hp1 HG03688.hp2 HG04204.hp1 HG04228.hp2 NA18959.hp2 NA18980.hp1 NA18991.hp2 NA19074.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0090 a0001c0003t0002 a0001c0003t0008	a0001c0001t0001g0095 a0001c0001t0001g0117 a0001c0001t0002g0017 others(13): Show a0001c0001t0001g0095 a0001c0001t0001g0117 a0001c0001t0002g0017 a0001c0001t0002g0115 a0001c0001t0002g0245 a0001c0001t0003g0258 a0001c0001t0003g0317 a0001c0001t0006g0401 a0001c0001t0007g0334 a0001c0001t0009g0398 a0001c0001t0013g0378 a0001c0001t0015g0409 a0001c0001t0090g0307 a0001c0003t0002g0220 a0001c0003t0002g0276 a0001c0003t0008g0221	16	425	0.0376	-200	c.77- others(15): Show c.77-2890_77-2691del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIEZO1_chr16_88710338_88790220	88771801	GTCCACCC others(193): Show GTCCACCCGCGGCCCCAGGCCCTCCTGAGACTCTATGCCCGTCCACCCGC GGCCCCAGGCCCTCCTGAGACTCTATGCCCGTCCACCCGCGGCCCCAGGC CCTCCTGAGACTCTATGCCCGTCCACCCGCGGCCCCAGGCCCACCTGAGA CTCTATGCCCGTCCACCCGCGGCCCCAGGCCCTCCTGAGACTCTATGCCC A	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00597.hp2 others(16): Show HG00323.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG04199.hp1 NA18945.hp1 NA18967.hp2 NA18990.hp1	a0001 a0003 a0010 others(6): Show a0001 a0003 a0010 a0012 a0013 a0036 a0037 a0039 a0076	a0001c0001 a0001c0096 a0001c0107 others(13): Show a0001c0001 a0001c0096 a0001c0107 a0003c0030 a0003c0082 a0003c0085 a0010c0036 a0010c0126 a0010c0127 a0012c0012 a0013c0066 a0013c0130 a0036c0050 a0037c0108 a0039c0118 a0076c0080	a0001c0001t0001 a0001c0096t0001 a0001c0107t0001 others(13): Show a0001c0001t0001 a0001c0096t0001 a0001c0107t0001 a0003c0030t0002 a0003c0082t0002 a0003c0085t0001 a0010c0036t0001 a0010c0126t0001 a0010c0127t0001 a0012c0012t0001 a0013c0066t0001 a0013c0130t0001 a0036c0050t0001 a0037c0108t0001 a0039c0118t0001 a0076c0080t0001	a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0146 others(16): Show a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0096t0001g0148 a0001c0107t0001g0137 a0003c0030t0002g0136 a0003c0082t0002g0161 a0003c0085t0001g0147 a0010c0036t0001g0139 a0010c0126t0001g0275 a0010c0127t0001g0130 a0012c0012t0001g0129 a0013c0066t0001g0054 a0013c0130t0001g0142 a0036c0050t0001g0053 a0037c0108t0001g0138 a0039c0118t0001g0141 a0076c0080t0001g0144	19	280	0.0679	-200	c.64+ others(17): Show c.64+12900_64+13099del	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	1/50			chr16	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	CATGGCTT others(193): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT G	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01884.hp1 HG02717.hp2 others(9): Show HG00733.hp2 HG01884.hp1 HG02717.hp2 HG02738.hp1 HG02922.hp2 HG03139.hp1 HG03579.hp1 HG03927.hp1 HG04184.hp1 HG04204.hp1 NA19043.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0003c0047 a0003c0048	a0001c0001t0001 a0001c0001t0022 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0022 a0001c0003t0001 a0001c0007t0001 a0003c0047t0002 a0003c0048t0003	a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0022g0171 a0001c0003t0001g0272 a0001c0007t0001g0057 a0003c0047t0002g0032 a0003c0048t0003g0260	12	83	0.1446	-200	c.-84 others(17): Show c.-84-1372_-84-1173del	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PINX1_chr8_10759961_10844875	10805599	GGCCACAC others(193): Show GGCCACACTAGCGCTGAGTGGGTGACGGAGCACAGGAAGGGGCCACACTA GCGCTGAGTGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTGAGTG GGTGACGGAGCACAGGAAGGGGCCACACTAGCGCTGAGTGGGTGACGGAG CACAGGAAGGGGCCACACTAGTGCTGAGTGGGTGGCAGAGCACAGGAAGA A	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	352	0.0028	-200	c.471 others(19): Show c.471+14394_471+14593del	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PIP5K1C_chr19_3625183_3705468	3649048	TTGTCACC others(193): Show TTGTCACCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAA CTGTCACCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAA CTGTCACCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAA CTGTCACCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAA C	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0143 a0001c0002t0035g0143	1	167	0.0060	-200	c.112 others(17): Show c.1128-540_1128-341del	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649163	ATGCCCAC others(193): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19030.hp2 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0037 a0001c0025t0013 a0001c0001t0037 a0001c0025t0013	a0001c0001t0037g0245 a0001c0025t0013g0322 a0001c0001t0037g0245 a0001c0025t0013g0322	2	251	0.0080	-200	c.112 others(17): Show c.1128-655_1128-456del	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649313	GTGCCCAC others(193): Show GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC A	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0298 a0001c0002t0008g0298	1	329	0.0030	-200	c.112 others(17): Show c.1128-805_1128-606del	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PITPNM3_chr17_6446263_6561555	6561043	TCCTTCTC others(193): Show TCCTTCTCCTCTTCATTCTCCCCTCCTCCTCCTCTTCCTCCTCCTTCTCC CTTCCTCTTCCTCCTTCTCCTTCTCCCCCCTCCTTCCCTCCTCTTCCTCC TTCTCCTCCTCCTCCCCCCTTCCTCCTCTTCCTCCTCCCCTCCCCCTCCT CTTCCTCCTCCCCTCCCCCTCCTCTTCCTCCTCCTCTCCCTTCCTCTTCC C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	215	0.0047	-200	c.-48 others(11): Show c.-4837_-4638del	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4489		chr17	TogoVar
PLCXD1_chrX_276381_308356	280638	CGGAGGCC others(193): Show CGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAGGGGAGGCCGT GCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAA GGGAGGCCGTGCAGGCGGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGT GCAGGGGGAGGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAG G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG03130.hp1 HG02886.hp1 HG03098.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0021 a0001c0003t0101 a0001c0001t0021 a0001c0003t0101	a0001c0001t0021g0107 a0001c0001t0021g0108 a0001c0003t0101g0109 a0001c0001t0021g0107 a0001c0001t0021g0108 a0001c0003t0101g0109	3	86	0.0349	-200	c.-10 others(10): Show c.-1067_-868del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		742		chrX	TogoVar
PRDM15_chr21_41793225_41884344	41855925	TCCCTCCC others(193): Show TCCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCCTTCCCTCCCT CCCTCCCCTCCCTTCCTTCCTTTCCTTCCTTCCCTCCCTCCCCTCCCTCC CTTCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTTCCTTCCTTCCCTCCCT C	T T	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0319 a0001c0002t0002g0319	1	246	0.0041	-200	c.285 others(17): Show c.285+1051_286-1108del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRKG2_chr4_81082375_81220222	81131158	ATGGGAAA others(193): Show ATGGGAAAAGCTTAGTATCTGGGGCCGGAATTCACCATTCCTCACAGCAC AGTCCCTCATGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCAACCCCTTG TGGTTCCCAGGTGAGGTGACATTCCACCCTGCTTCAGCTCACCCACTGTC TAACCAGTCCTAATGAGATAAGCTGGGTATCTCAGTTAGAAATGCAGAAA T	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01891.hp1 others(5): Show HG01167.hp1 HG01243.hp1 HG01891.hp1 HG02615.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0028 a0001c0001t0005g0073 others(5): Show a0001c0001t0005g0008 a0001c0001t0005g0028 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0081 a0001c0001t0005g0208 a0001c0001t0005g0210 a0001c0001t0005g0222	8	248	0.0323	-200	c.177 others(19): Show c.1776+3797_1776+3996del	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding	14/18			chr4	TogoVar
RAB20_chr13_110518066_110566722	110520267	GATCCATG others(193): Show GATCCATGTGCTGGTGGTATCCATGTACTGGGGGAATCCACGTGCTGGGG AGAGAACCCGTGTGCTGGGGAGGGAACCCGTGTGCTGGGGAGAACCTGGG TGCTGGGGGGACCCATGTGCTGGCGGAACCCGTGTGCTGGGGAGGGAACC CGTGTGCTGGGGAGATCCGTGTGCTGGTGGGGGAGCCCGTGTGCTGGGGG T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0319 a0002c0004t0001g0319	1	422	0.0024	-200	c.31 others(11): Show c.3198_*3397del	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding		2798		chr13	TogoVar
RBBP6_chr16_24534566_24577863	24574378	CGGGGCGG others(193): Show CGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGGGCGGCT GCCGGGCGGAGGGGCTTCTCACTTCTCAGATGGGGCGGCTGCCGGGCGGA GGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTC ACTTCTCAGATGGGGCGGCTGCCGGGCGGAGGGGCTTCTCACTTCTCAGA T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	328	0.0030	-200	c.19 others(11): Show c.1934_*2133del	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		1516		chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79512481	ATTACCAT others(193): Show ATTACCATCGAGTACAGCCCCATGGCCAGGGGACACCCACCCAGATACAT GTTACCATCGGGTACAGCCCCATGGCCAGGGGACACCCACCCAGATACAT GTTACCATCGGGTACAGCCCCATGGCCAGGGGACGCACACCCGGATACAT GTTACCATCGGGTACGGCCCCATGGCCAGGGGACACCCACCCGGATACGT G	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	152	0.0066	-200	c.-31 others(21): Show c.-319-30083_-319-29884del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
SAXO1_chr9_18922650_19038209	18999785	GAGTGAGG others(193): Show GAGTGAGGAGCACCTCTGCCCGGCTGTCCCACTGTCTGGGAAGTGAGGAG CGCCTCTGCCCAGCCGCCACAACATCTGGGAAGTGAGGAGTGCCTCTACC CAGCCGCCCCACCATCTGGGAAGTGAGGAGCGCCTCTGCCCGGCCGCCAC AACATCTGGGAAGTGAGGAGTGCCTCTACCCAGCCGCCCCACCATCTGGG A	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0018 a0018	a0018c0019 a0018c0019	a0018c0019t0005 a0018c0019t0005	a0018c0019t0005g0196 a0018c0019t0005g0196	1	362	0.0028	-200	c.38+ others(17): Show c.38+32886_38+33085del	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	1/3			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1288210	TCTGCTCC others(193): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC C	T T	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	280	0.0036	-200	c.166 others(17): Show c.1662+191_1662+390del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGSM2_chr17_2332501_2386054	2355237	TGGGGGCA others(193): Show TGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGT TGGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGT TGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGT TGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTT G	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19002.hp2 NA19012.hp2 HG02015.hp2 NA19002.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0037 a0001c0001 a0001c0037	a0001c0001t0001 a0001c0001t0003 a0001c0037t0001 a0001c0001t0001 a0001c0001t0003 a0001c0037t0001	a0001c0001t0001g0134 a0001c0001t0003g0252 a0001c0037t0001g0213 a0001c0001t0001g0134 a0001c0001t0003g0252 a0001c0037t0001g0213	3	226	0.0133	-200	c.134 others(17): Show c.134-6395_134-6196del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	TAGCAGGG others(193): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG C	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02895.hp1 HG03927.hp2 HG02129.hp2 HG02895.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0097 a0001c0002t0002 a0001c0001t0005 a0001c0001t0097 a0001c0002t0002	a0001c0001t0005g0092 a0001c0001t0097g0366 a0001c0002t0002g0071 a0001c0001t0005g0092 a0001c0001t0097g0366 a0001c0002t0002g0071	3	123	0.0244	-200	c.-32 others(17): Show c.-32-1836_-32-1637del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302747	GCCCTGGG others(193): Show GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGT GGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTG AGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGC AGGGGCAAAGGCCCTGGGGTGGGTGCAGTGAGGAGGCAGCAGGGGCAAAG A	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02080.hp1 HG02559.hp2 others(6): Show HG01433.hp2 HG02080.hp1 HG02559.hp2 NA18941.hp2 NA18982.hp1 NA18983.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0048 a0001c0001t0051	a0001c0001t0002g0096 a0001c0001t0002g0163 a0001c0001t0002g0277 others(6): Show a0001c0001t0002g0096 a0001c0001t0002g0163 a0001c0001t0002g0277 a0001c0001t0004g0276 a0001c0001t0005g0164 a0001c0001t0005g0167 a0001c0001t0009g0289 a0001c0001t0048g0135 a0001c0001t0051g0129	9	378	0.0238	-200	c.-32 others(17): Show c.-32-1970_-32-1771del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHOX_chrX_625791_656584	636540	TATAAAAA others(193): Show TATAAAAATATATATAAACATATATACATATAAAGAAATATATATAAACA TATATACATATAAAATATACATATATAAACATATATATACATATAAAGAA ATATATATAAACATATATACATATAAAATATACATATATAAACATATATA TACATAAAATATATATATAAACATATATATACATAAAATATATATATAAA C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00735.hp2 others(39): Show HG00099.hp1 HG00558.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01175.hp2 HG01346.hp2 HG01361.hp1 HG01981.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03704.hp1 HG03927.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18950.hp1 NA18956.hp1 NA18969.hp2 NA18991.hp2 NA18993.hp1 NA19010.hp2 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19064.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(33): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0042 a0001c0001t0045 a0001c0001t0052 a0001c0001t0077 a0001c0001t0089 a0001c0001t0093 a0001c0001t0115 a0001c0001t0120 a0001c0001t0122 a0001c0001t0123 a0001c0001t0129 a0001c0001t0131 a0001c0001t0132 a0001c0001t0136 a0001c0001t0143 a0001c0001t0145 a0001c0001t0146 a0001c0001t0152 a0001c0001t0153 a0001c0001t0155 a0001c0001t0172	a0001c0001t0001g0169 a0001c0001t0005g0001 a0001c0001t0007g0019 others(37): Show a0001c0001t0001g0169 a0001c0001t0005g0001 a0001c0001t0007g0019 a0001c0001t0007g0038 a0001c0001t0009g0008 a0001c0001t0009g0144 a0001c0001t0010g0112 a0001c0001t0010g0179 a0001c0001t0011g0153 a0001c0001t0023g0078 a0001c0001t0023g0130 a0001c0001t0024g0073 a0001c0001t0025g0117 a0001c0001t0028g0013 a0001c0001t0029g0138 a0001c0001t0030g0043 a0001c0001t0032g0091 a0001c0001t0034g0200 a0001c0001t0036g0024 a0001c0001t0042g0166 a0001c0001t0045g0097 a0001c0001t0052g0090 a0001c0001t0077g0178 a0001c0001t0089g0099 a0001c0001t0093g0126 a0001c0001t0115g0037 a0001c0001t0120g0005 a0001c0001t0122g0005 a0001c0001t0123g0183 a0001c0001t0129g0082 a0001c0001t0131g0188 a0001c0001t0132g0034 a0001c0001t0136g0107 a0001c0001t0143g0086 a0001c0001t0145g0017 a0001c0001t0146g0079 a0001c0001t0152g0065 a0001c0001t0153g0156 a0001c0001t0155g0008 a0001c0001t0172g0201	42	218	0.1927	-200	c.486 others(17): Show c.486+1718_486+1917del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401131	CCCCGGCC others(193): Show CCCCGGCCCCGCTCACACCTGCCCCGCTCACACCCGGCCCCGCTCACACC CGGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGC CCCGCTCACACCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCAC A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03516.hp1 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0128 a0001c0001t0001g0129	2	226	0.0088	-200	c.45 others(11): Show c.4565_*4764del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4584		chr11	TogoVar
SLC17A9_chr20_62947709_62974585	62960987	CCAGGGTG others(193): Show CCAGGGTGGGCCTATCAGCTGGCTGGAGGGCGGCTTGTCCTCAGGGTGGG CCTATCAGCTGGCTGGAGGGCGGCTTGTCCTCACGGTGGGCCTATCAGCT GGCTGGAGGGCGGCTTGTCCTCAGGGTGGGCCTATCAGCTGGCTGGAGGG CGGCTTGTCCTCAGGGTGGGCCTATCAGCTGGCTGGAGGGCGGCTTGTCC T	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG04199.hp1 HG02055.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0022 a0001c0001t0004 a0001c0001t0022	a0001c0001t0004g0092 a0001c0001t0022g0148 a0001c0001t0004g0092 a0001c0001t0022g0148	2	355	0.0056	-200	c.497 others(15): Show c.497+467_497+666del	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC6A3_chr5_1387794_1450440	1406603	GCTGCTGG others(193): Show GCTGCTGGTACTTCTTGTTCACTTAAAAAGATTATGGTAAAATACACATA ACATAAAACTTACCATTTTAGCCATTTTTACGTGTAGAGTTCATAATGTA TCAATACATTCACATACTGTGTAACCGTCACCACCGTCCATCTTCAGAAC TCCATCCTCCAAAATGAAATTCTGCCCTCATGAAACGCCAACTCCTCCCG A	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02055.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0325 a0001c0001t0001g0301 a0001c0001t0001g0325	2	372	0.0054	-200	c.149 others(17): Show c.1499-515_1499-316del	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	11/14			chr5	TogoVar
SLC7A1_chr13_29504414_29600688	29558889	TGAGGGGG others(193): Show TGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAG AGAATGTGAGTGAGGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGA GGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAG AATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATG A	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0016 a0002c0007t0016	a0002c0007t0016g0196 a0002c0007t0016g0196	1	328	0.0030	-200	c.-11 others(19): Show c.-114-5229_-114-5030del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559171	GGGGGAGA others(193): Show GGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGACGGGGAGTGAATGTGAGTGAGGGGGGAGAGAATGTGAGTG AGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAG AATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTG A	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01943.hp2 HG01952.hp1 HG00408.hp2 HG01943.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0002t0009 a0001c0001t0001 a0001c0002t0004 a0001c0002t0009	a0001c0001t0001g0289 a0001c0002t0004g0307 a0001c0002t0009g0306 a0001c0001t0001g0289 a0001c0002t0004g0307 a0001c0002t0009g0306	3	317	0.0095	-200	c.-11 others(19): Show c.-114-5511_-114-5312del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SRBD1_chr2_45383680_45616267	45414957	CACACATA others(193): Show CACACATATAGTGTGTATATAGTATGTATATACACACATATAGTGTGTAT ATAGTATGTATATACACACATATAGTGTGTATATAGTATGTATATACACA CATATAGTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAG TATGTATATACACACATATAGTGTGTATATAGTATGTATATACACACATA T	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01981.hp2 HG00733.hp1 HG01981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0292 a0003c0003t0001g0294 a0003c0003t0001g0292 a0003c0003t0001g0294	2	355	0.0056	-200	c.233 others(19): Show c.2334-1864_2334-1665del	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRGAP2B_chr1_144882288_145100328	144883787	AAAAAGCC others(193): Show AAAAAGCCGCGGCGGCGAGGGGGGTCACAACAAAGCCGCGGCGGGCAAAA AGCCGAGGCGGGGTGGGGGGGGGGGAGGGGGGGAAGCCGCGGCGGCGGGG GGCGAAAAGCCACGGCGGCGGGGGGTAAAAAGCCGCGGCGGTCAAAAAGC CGAGGCGGGGTGGGGGGGGGGGAGGGGGGGAAGCCGCGGCGGCGGGGGGC G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG03669.hp2 HG02602.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0009 a0001c0001t0001g0015	2	54	0.0370	-200	c.81 others(11): Show c.8173_*8372del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3500		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144883795	GCGGCGGC others(193): Show GCGGCGGCGAGGGGGGTCACAACAAAGCCGCGGCGGGCAAAAAGCCGAGG CGGGGTGGGGGGGGGGGAGGGGGGGAAGCCGCGGCGGCGGGGGGCGAAAA GCCACGGCGGCGGGGGGTAAAAAGCCGCGGCGGTCAAAAAGCCGAGGCGG GGTGGGGGGGGGGGAGGGGGGGAAGCCGCGGCGGCGGGGGGCGAAAAGCC A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0053 a0004c0005t0006g0053	1	53	0.0189	-200	c.81 others(11): Show c.8165_*8364del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3492		chr1	TogoVar
STAT3_chr17_42308324_42393442	42337981	GGACCTGA others(193): Show GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT T	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG03195.hp1 HG02145.hp2 HG02717.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0114 a0001c0001t0005g0118 a0001c0001t0005g0090 a0001c0001t0005g0114 a0001c0001t0005g0118	3	253	0.0119	-200	c.551 others(15): Show c.551-324_551-125del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338061	GGACCTGA others(193): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT T	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp2 HG01433.hp2 others(8): Show HG00738.hp2 HG01168.hp2 HG01433.hp2 HG02027.hp1 HG02056.hp2 NA18747.hp2 NA18950.hp2 NA18962.hp2 NA18969.hp2 NA18973.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0001t0036	a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0202 others(8): Show a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0011g0239 a0001c0001t0014g0190 a0001c0001t0036g0143	11	295	0.0373	-200	c.551 others(15): Show c.551-404_551-205del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338301	GGACCTGA others(193): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT T	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01109.hp2 others(2): Show HG00639.hp2 HG00738.hp1 HG01109.hp2 HG01978.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0255 others(2): Show a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0276	5	296	0.0169	-200	c.550 others(15): Show c.550+230_550+429del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338321	GGACCTGA others(193): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT T	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp2 HG01515.hp2 others(8): Show HG01192.hp1 HG01255.hp2 HG01515.hp2 HG02148.hp2 HG03130.hp2 HG03710.hp1 HG03927.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0032 a0001c0001t0001 a0001c0001t0003 a0001c0001t0032	a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0003g0283 others(8): Show a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0003g0283 a0001c0001t0003g0286 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0300 a0001c0001t0032g0270	11	291	0.0378	-200	c.550 others(15): Show c.550+210_550+409del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STK32B_chr4_5046480_5505989	5317250	ATAACATA others(193): Show ATAACATATAACATATATATAATATATAACATATAACATATATATAATAT ATAATATATAACATATGTATAATATATATTACATATATAATACATATATA TAATATATATAATGTATATGTATTATATATATTACATATATATAATATAT ATAATGTATATGTATTATATATAATACATATATATTACATATATACATAA T	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG02896.hp1 others(2): Show HG01891.hp2 HG02630.hp1 HG02896.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0001 a0001c0001t0002 a0001c0001t0019	a0001c0001t0001g0007 a0001c0001t0001g0131 a0001c0001t0001g0136 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0002g0070 a0001c0001t0019g0144	5	168	0.0298	-200	c.261 others(19): Show c.261-13969_261-13770del	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11			chr4	TogoVar
STK38_chr6_36488892_36552479	36551267	GTCTCGCT others(193): Show GTCTCGCTCTGTCACCTAGGCTATAGTGCAGTGGTGCGATAACAGCTCAC TGCAGCCTTGACCTCCTGAGCTCAAGCAATCTGCCTGCCTCAGCTTCCCA AAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCTTGAGACTAGT GTGCATGAGTGTGTGTGTTTTGTTTTGTTTTGTTTTGTTTTTGAGACGGA A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	396	0.0025	-200	c.-42 others(11): Show c.-4283_-4084del	STK38	ENSG00000112079.9	transcript	ENST00000229812.8	protein_coding		3789		chr6	TogoVar
SYNPR_chr3_63273308_63621924	63313746	CATATATA others(193): Show CATATATATATCCATATATATATCCATATATATATATCCATATATATATA TCCATATATATATCCATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TATCCATATATATATCCATATATATATATATCCATATATATATATATCCA T	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02027.hp2 HG02083.hp2 others(5): Show HG01346.hp2 HG02027.hp2 HG02083.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03704.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0001t0006 a0001c0006t0006 a0001c0001t0004 a0001c0001t0006 a0001c0006t0006	a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 others(5): Show a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0006g0236 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0006t0006g0234	8	131	0.0611	-200	c.84+ others(17): Show c.84+35015_84+35214del	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
THAP4_chr2_241579405_241642158	241603294	ACACACCT others(193): Show ACACACCTGCCCGCCCCCTCCACCACCTTGCTCATTTTGGCTGTGTCTGT CTTGCCTGCTGACCCTCAGCTCCTGAAGACGGGCTGTTCCAGCCACACCC GCACACCTGCCCGCCCCCTCCAGCGCCTTGCTCATTTTGGCTGTGTCTGT CTTACCTGCTGACCCTCAGCTCCTGAAGACGGGCTGTTCCAGCCACACCC G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(41): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01071.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01993.hp1 HG02027.hp2 HG02055.hp2 HG02129.hp2 HG02572.hp2 HG02602.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp1 NA18612.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18967.hp2 NA18969.hp2 NA18972.hp2 NA18977.hp1 NA18993.hp2 NA19060.hp2 NA19064.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0008 a0001c0001 a0002c0003 a0003c0008	a0001c0001t0001 a0002c0003t0001 a0003c0008t0001 a0001c0001t0001 a0002c0003t0001 a0003c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0038 others(39): Show a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0217 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0093 a0002c0003t0001g0096 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0103 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0194 a0002c0003t0001g0195 a0003c0008t0001g0073	44	388	0.1134	-200	c.140 others(17): Show c.1401-415_1401-216del	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	3/5			chr2	TogoVar
THOP1_chr19_2780503_2820807	2817879	TCAGAGCA others(193): Show TCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGAC CAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGC AGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(104): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG01081.hp1 HG01123.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19009.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19067.hp1 NA19070.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0003 a0004c0011 others(1): Show a0001c0001 a0003c0003 a0004c0011 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0030 a0001c0001t0033 a0003c0003t0002 a0003c0003t0012 a0004c0011t0002 a0006c0010t0002	a0001c0001t0001g0205 a0001c0001t0002g0002 a0001c0001t0002g0005 others(72): Show a0001c0001t0001g0205 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0090 a0001c0001t0002g0143 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0003g0171 a0001c0001t0005g0006 a0001c0001t0005g0046 a0001c0001t0005g0072 a0001c0001t0005g0158 a0001c0001t0007g0002 a0001c0001t0007g0018 a0001c0001t0007g0188 a0001c0001t0007g0190 a0001c0001t0007g0202 a0001c0001t0012g0216 a0001c0001t0014g0021 a0001c0001t0015g0013 a0001c0001t0016g0022 a0001c0001t0016g0198 a0001c0001t0023g0167 a0001c0001t0030g0170 a0001c0001t0033g0157 a0003c0003t0002g0002 a0003c0003t0002g0070 a0003c0003t0002g0206 a0003c0003t0012g0002 a0004c0011t0002g0175 a0006c0010t0002g0009	107	364	0.2940	-200	c.46 others(11): Show c.4604_*4803del	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2073		chr19	TogoVar
TMCC1_chr3_129642792_129898711	129818401	TAAGAAAC others(193): Show TAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT AAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT AAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT AAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT A	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG01167.hp1 others(18): Show HG00738.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02897.hp1 HG02897.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0021 a0001c0002t0005 others(3): Show a0001c0001t0004 a0001c0001t0021 a0001c0002t0005 a0001c0002t0008 a0001c0002t0012 a0001c0002t0015	a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 others(18): Show a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0021g0120 a0001c0002t0005g0169 a0001c0002t0005g0170 a0001c0002t0005g0171 a0001c0002t0005g0172 a0001c0002t0005g0173 a0001c0002t0005g0174 a0001c0002t0005g0175 a0001c0002t0005g0176 a0001c0002t0005g0177 a0001c0002t0005g0179 a0001c0002t0008g0178 a0001c0002t0012g0180 a0001c0002t0015g0018	21	27	0.7778	-200	c.576 others(17): Show c.576+9202_576+9401del	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TNC_chr9_115014575_115123157	115095494	ATATATAT others(193): Show ATATATATGTATATATATATGTATATATATGTATATATATATGTATATAT ATGTATATATATGTATATATATGTATATATATGTATATATATGTATATAT ATGTATATATATATGTATATATGTATATATATATGTATATATATGTATAT ATATATGTATATATATGTATATATATATGTATATATATGTATATATATAT G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(129): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00597.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18981.hp2 NA18983.hp1 NA18993.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19084.hp2 NA19087.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(14): Show a0001 a0003 a0004 a0005 a0006 a0009 a0011 a0015 a0016 a0019 a0025 a0027 a0028 a0035 a0039 a0041 a0043	a0001c0002 a0001c0024 a0003c0003 others(30): Show a0001c0002 a0001c0024 a0003c0003 a0003c0013 a0003c0027 a0003c0068 a0003c0069 a0004c0004 a0004c0018 a0004c0073 a0004c0074 a0004c0075 a0005c0014 a0005c0017 a0005c0023 a0005c0037 a0005c0066 a0005c0067 a0006c0007 a0009c0100 a0011c0010 a0011c0076 a0015c0021 a0016c0022 a0019c0032 a0025c0038 a0027c0070 a0027c0071 a0028c0036 a0035c0065 a0039c0078 a0041c0072 a0043c0047	a0001c0002t0001 a0001c0002t0010 a0001c0024t0015 others(44): Show a0001c0002t0001 a0001c0002t0010 a0001c0024t0015 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0010 a0003c0003t0013 a0003c0003t0019 a0003c0013t0001 a0003c0013t0008 a0003c0027t0002 a0003c0068t0013 a0003c0069t0005 a0004c0004t0001 a0004c0004t0002 a0004c0018t0004 a0004c0073t0002 a0004c0074t0002 a0004c0075t0004 a0005c0014t0001 a0005c0017t0001 a0005c0017t0002 a0005c0023t0001 a0005c0023t0018 a0005c0037t0004 a0005c0066t0002 a0005c0067t0002 a0006c0007t0005 a0006c0007t0022 a0006c0007t0024 a0006c0007t0027 a0009c0100t0005 a0011c0010t0001 a0011c0010t0013 a0011c0076t0001 a0015c0021t0004 a0016c0022t0004 a0019c0032t0001 a0025c0038t0005 a0027c0070t0002 a0027c0071t0001 a0028c0036t0002 a0035c0065t0005 a0039c0078t0001 a0041c0072t0006 a0043c0047t0001	a0001c0002t0001g0128 a0001c0002t0001g0267 a0001c0002t0001g0268 others(128): Show a0001c0002t0001g0128 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0290 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0327 a0001c0002t0010g0288 a0001c0002t0010g0330 a0001c0024t0015g0320 a0003c0003t0001g0199 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0247 a0003c0003t0001g0279 a0003c0003t0001g0283 a0003c0003t0001g0310 a0003c0003t0001g0329 a0003c0003t0001g0331 a0003c0003t0001g0336 a0003c0003t0001g0344 a0003c0003t0003g0053 a0003c0003t0004g0337 a0003c0003t0010g0328 a0003c0003t0013g0201 a0003c0003t0019g0273 a0003c0003t0019g0360 a0003c0013t0001g0272 a0003c0013t0001g0282 a0003c0013t0001g0285 a0003c0013t0001g0304 a0003c0013t0008g0246 a0003c0013t0008g0309 a0003c0027t0002g0214 a0003c0027t0002g0215 a0003c0027t0002g0218 a0003c0068t0013g0323 a0003c0069t0005g0219 a0004c0004t0001g0269 a0004c0004t0002g0205 a0004c0004t0002g0210 a0004c0004t0002g0220 a0004c0004t0002g0223 a0004c0004t0002g0278 a0004c0004t0002g0280 a0004c0004t0002g0281 a0004c0004t0002g0284 a0004c0004t0002g0293 a0004c0004t0002g0297 a0004c0004t0002g0300 a0004c0004t0002g0306 a0004c0004t0002g0311 a0004c0004t0002g0312 a0004c0004t0002g0313 a0004c0004t0002g0333 a0004c0018t0004g0224 a0004c0018t0004g0226 a0004c0018t0004g0305 a0004c0018t0004g0334 a0004c0073t0002g0274 a0004c0074t0002g0286 a0004c0075t0004g0266 a0005c0014t0001g0005 a0005c0014t0001g0289 a0005c0014t0001g0299 a0005c0014t0001g0308 a0005c0014t0001g0314 a0005c0017t0001g0081 a0005c0017t0002g0076 a0005c0017t0002g0078 a0005c0017t0002g0079 a0005c0017t0002g0080 a0005c0023t0001g0291 a0005c0023t0001g0292 a0005c0023t0001g0315 a0005c0023t0018g0361 a0005c0037t0004g0271 a0005c0066t0002g0251 a0005c0067t0002g0359 a0006c0007t0005g0200 a0006c0007t0005g0204 a0006c0007t0005g0221 a0006c0007t0005g0222 a0006c0007t0005g0270 a0006c0007t0005g0287 a0006c0007t0005g0295 a0006c0007t0005g0298 a0006c0007t0005g0324 a0006c0007t0005g0357 a0006c0007t0022g0054 a0006c0007t0024g0212 a0006c0007t0027g0294 a0009c0100t0005g0317 a0011c0010t0001g0064 a0011c0010t0001g0209 a0011c0010t0001g0211 a0011c0010t0001g0225 a0011c0010t0001g0227 a0011c0010t0001g0228 a0011c0010t0001g0263 a0011c0010t0001g0264 a0011c0010t0001g0296 a0011c0010t0013g0265 a0011c0076t0001g0206 a0015c0021t0004g0129 a0015c0021t0004g0254 a0015c0021t0004g0255 a0015c0021t0004g0256 a0016c0022t0004g0130 a0016c0022t0004g0131 a0019c0032t0001g0316 a0019c0032t0001g0318 a0019c0032t0001g0319 a0025c0038t0005g0353 a0025c0038t0005g0354 a0027c0070t0002g0352 a0027c0071t0001g0355 a0028c0036t0002g0202 a0028c0036t0002g0203 a0035c0065t0005g0326 a0039c0078t0001g0307 a0041c0072t0006g0351 a0043c0047t0001g0358	132	364	0.3626	-200	c.-13 others(19): Show c.-136-4540_-136-4341del	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27			chr9	TogoVar
TP63_chr3_189626389_189902276	189878673	CGACCTTG others(193): Show CGACCTTGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCACCGCGCC CAGCCTACAGTTTACTTTTGAATTTCATAGTTATGAAGTTTTCAGGGCAG AGATTTATTATCTCTGAATTGGTAATGAAGAAAAACCATAGAGACGGGGT TTCACCATGTTGGCCAGGCTGGTCTCAAACCCCTGACCTTGTGATCCCCC T	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00621.hp1 others(63): Show HG00280.hp1 HG00423.hp1 HG00621.hp1 HG00741.hp1 HG01169.hp1 HG01175.hp2 HG01257.hp2 HG01517.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18952.hp1 NA18953.hp2 NA18969.hp2 NA18970.hp1 NA19000.hp1 NA19006.hp2 NA19012.hp1 NA19043.hp1 NA19078.hp1 NA19088.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 a0001c0001t0035 a0001c0001t0038 a0001c0001t0042	a0001c0001t0001g0194 a0001c0001t0002g0067 a0001c0001t0002g0069 others(63): Show a0001c0001t0001g0194 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0002g0246 a0001c0001t0003g0068 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0098 a0001c0001t0003g0105 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0121 a0001c0001t0003g0215 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0229 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0248 a0001c0001t0003g0250 a0001c0001t0003g0271 a0001c0001t0003g0274 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0296 a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0035 a0001c0001t0004g0045 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0054 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0085 a0001c0001t0004g0090 a0001c0001t0004g0126 a0001c0001t0004g0140 a0001c0001t0004g0157 a0001c0001t0004g0161 a0001c0001t0004g0167 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0186 a0001c0001t0004g0189 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0208 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0240 a0001c0001t0028g0102 a0001c0001t0035g0192 a0001c0001t0038g0128 a0001c0001t0042g0007	66	310	0.2129	-200	c.134 others(19): Show c.1349+5813_1349+6012del	TP63	ENSG00000073282.14	transcript	ENST00000264731.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
TP63_chr3_189784659_189902276	189878673	CGACCTTG others(193): Show CGACCTTGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCACCGCGCC CAGCCTACAGTTTACTTTTGAATTTCATAGTTATGAAGTTTTCAGGGCAG AGATTTATTATCTCTGAATTGGTAATGAAGAAAAACCATAGAGACGGGGT TTCACCATGTTGGCCAGGCTGGTCTCAAACCCCTGACCTTGTGATCCCCC T	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00621.hp2 others(79): Show HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00738.hp1 HG00741.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp1 NA18995.hp1 NA19000.hp2 NA19006.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19078.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0022 a0001c0001t0027 a0001c0001t0030 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046	a0001c0001t0001g0043 a0001c0001t0001g0087 a0001c0001t0001g0153 others(78): Show a0001c0001t0001g0043 a0001c0001t0001g0087 a0001c0001t0001g0153 a0001c0001t0001g0200 a0001c0001t0002g0009 a0001c0001t0002g0069 a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0047 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0121 a0001c0001t0003g0133 a0001c0001t0003g0137 a0001c0001t0003g0181 a0001c0001t0003g0196 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0219 a0001c0001t0003g0224 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0254 a0001c0001t0003g0264 a0001c0001t0003g0267 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0295 a0001c0001t0003g0318 a0001c0001t0003g0341 a0001c0001t0003g0344 a0001c0001t0003g0347 a0001c0001t0003g0351 a0001c0001t0003g0353 a0001c0001t0003g0362 a0001c0001t0003g0378 a0001c0001t0003g0395 a0001c0001t0004g0057 a0001c0001t0004g0074 a0001c0001t0004g0077 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0004g0095 a0001c0001t0004g0109 a0001c0001t0004g0123 a0001c0001t0004g0131 a0001c0001t0004g0144 a0001c0001t0004g0149 a0001c0001t0004g0171 a0001c0001t0004g0207 a0001c0001t0004g0255 a0001c0001t0004g0301 a0001c0001t0004g0373 a0001c0001t0004g0392 a0001c0001t0004g0393 a0001c0001t0016g0307 a0001c0001t0016g0316 a0001c0001t0016g0319 a0001c0001t0022g0309 a0001c0001t0022g0325 a0001c0001t0027g0239 a0001c0001t0027g0273 a0001c0001t0030g0066 a0001c0001t0042g0333 a0001c0001t0043g0223 a0001c0001t0046g0169	82	396	0.2071	-200	c.106 others(19): Show c.1067+5813_1067+6012del	TP63	ENSG00000073282.14	transcript	ENST00000354600.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPO_chr2_1408463_1548673	1490068	AGGGTCCC others(193): Show AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG TGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCTGCCACG T	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	119	0.0084	-200	c.176 others(19): Show c.1768+2270_1768+2469del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1531121	GCAACCTC others(193): Show GCAACCTCCCCAAAACCCCCCACTGTGTGCAACCTCCCCAAATCCCCCCC ACTGTGAGCAACCTCCCCAAATCCCCACACTGTCTGCAACCACCCCAAAT CGCCCCCACTGTGTGCAACCGCCTCATATTCCCCCCACTGTGTGGACCCT TCTCAAATCCCCCCTAATGTCAGCAACTTCCCTAAATCCCCCAACTGTGT T	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG04184.hp1 HG00733.hp2 HG00738.hp1 HG04184.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0007 a0001c0001t0010 a0004c0005t0007 a0001c0001t0007 a0001c0001t0010 a0004c0005t0007	a0001c0001t0007g0014 a0001c0001t0010g0054 a0004c0005t0007g0080 a0001c0001t0007g0014 a0001c0001t0010g0054 a0004c0005t0007g0080	3	128	0.0234	-200	c.261 others(19): Show c.2619-9459_2619-9260del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TUBGCP2_chr10_133273635_133313872	133291738	CCCGTGTC others(193): Show CCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCAT GTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCC T	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0047 a0001c0002t0003g0047	1	257	0.0039	-200	c.121 others(17): Show c.1214+561_1214+760del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UMODL1_chr21_42066317_42147996	42078185	TAGAAACC others(193): Show TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCCGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA C	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0066 a0066	a0066c0081 a0066c0081	a0066c0081t0006 a0066c0081t0006	a0066c0081t0006g0302 a0066c0081t0006g0302	1	375	0.0027	-200	c.319 others(17): Show c.319+1988_319+2187del	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar

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