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
SCML2_chrX_18234313_18359688	18261191	TCTTGCTA others(1138): Show TCTTGCTATGTTGCCCTGGCTGGATTTGAGCTCCTGGGCTCAAGGGATCC TCCTACCTCCGCCTCCCAAAGTGCTGGGATTATAGGCATGCGCCACTGCC TGGACACAATCATGTTATTTTTCAGTACTGAATTATAATTACTGGGTTGA CCATGTCATTCTTTCACTATTTTAAAAATCTGAAATCTGAATCCTTTGTC TTGAGACATACCAAGATAGTATGTTTGCATTAACACTGCAAATTGAATAA AGGTACATTCATTAAGAAAATGTGCTCCTGCACTCCTCCCTTAAGGGGAG GAAGAAAATGACAACTTGTATCCAAATATGACATAGATCCCATAAATACA TACAAGTATTATGTATTCATAATAAAAAGTAAAAAACTTTTAAAATAATT TTTAAAAGATTAAAGTACCTGCCCCTTCTCCATCCCCATCATCAAATAAA CAATGTTTTCAAAGAGAGCTCTCCAAAATTATCAAATTAGCTTGGAACTG GAAACTAAAGGAGTCAAAGGAAACTATTTGGTGTTATCTTACATTTTCAC CATTATACCAACTAATCACAAAGACATTTCAGAAGCTGGAAAATATACAC ACATGTTAATTTTTTAATGCATTTAAAATATTATTTCACTTTAAATTTCA CTATTAACTTTTCTTACTTTTATTTTTCATTTAAAAAATTTCATCTGCTA CCATTTATATTAGAACAATCTGCCTGATTTTTTTCAATGTTCATGACTAT ATTTTTGAAATATTTAGCTTTGACTTTTGATTTTTATTTTGTAAATTTTG AGTGTTTTTAAAGAAAAATAACAGTATCAATATATTTTAAAATCACAATG TTATTTTTTTTCCATACAGCAAACATAAGTTGAAACAAAATGGAAATGTT ATAGATACTGATATCGGATGGCTGAACTCAGGAATGTGTAAGATAATACT GCTGGCATTTAATTCAGTCAGCCACAAGAGATCTGAAAAGATTCTATGTC TTTATATTTAGAGTGCATCTCTTGTAGACAGGACATATTTGGGTCTTTAA AAAAAAATCCATGTTGATAATCTCTGTCTTTTTAACTAGAAAGGATAATC CACTAACTTTTCATGCAATTACCAGTATGTTTGGATCTGGGTCTAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG02970.hp1 HG01891.hp1 HG02572.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230	3	239	0.0126	-1145	c.949 others(16): Show c.949-2045_949-901del	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	8/14			chrX	TogoVar
DPP6_chr7_154047398_154899285	154660540	GTTCATAT others(1137): Show GTTCATATAGTCATGGTGAATCACCATGGCGTATCGGCCGTAGTGTTCAT ATAGTCATGGTGAATCACCATGGCATATTGGCCGTAGTGTTCATATACTC ATGGTGAATCACCATGGCGTATTGGCCGTAGTATTCATATAGTCATGGTG AATCACCATGGCATATTGGCGCTAGTATTCATATAGTCATGGTGAATCAC CATGGCGTATTGGCCGTAGTGTTCCTATAGTCATGGTGAATCACCATGGC GTATTGGCGCTAGTATTCATATAGTCATGGTGAATCACCATGGCGTATTG GCCGTAGTGTTCATATAGTCATGGTGAATCACCATGGCGTATTGGCGCTA GTATTCATATAGTCATGGTGAATCACCATGGCGTATTGGCCGTAGTATTC ATATAGTCATGGTGAATCACCATGGCATATTGGCGCTAGTATTCATATAG TCATGGTGAATCACCATGGCATATTGGCGCTAGTATTCATATAGTCATGG TGAATCACCATGGCGTATTGGCCGTAGTGTTCATATAGTCATGGTGAATC ACCATGGCGTATTGGCGCTAGTATTCATATAGTCATGGTGAATCACCATG GCGTATTGGCCGTAGTGTTCATATAGTCATGGTGAATCACCATGGCGTAT TGGCGCTAGTATTCATATAGTCATGGTGAATCACCATGGCGTATTGGCCG TAGTGTTCATATAGTCATGGTGAATCACCATGGCGTATTGGCGCTAGTAT TCATATAGTCATGGTGAATCACCATGGCGTATTGGCCGTAGTGTTCATAT AGTCATGGTGAATCACCATGGCGTATTGGCGCTAGTATTCATATAGTCAT GGTGAATCACCATGGCGTATTGGCCGTAGTGTTCATATAGTCATGGTGAA TCACCATGGCGTATTGGCGCTAGTATTCATATAGTCATGGTGAATCACCA TGGCGTATTGGCCGTAGTGTTCATATAGTCATGGTGAATCACCATGGCGT ATTGGCGCTAGTATTCATATAGTCATGGTGAATCACCATGGCGTATTGGC CGTAGTGTTCATATAGTCATGGTGAATCACCATGGCGTATTGGCCGTAGT ATTCATATAGTCATGGTGAATCACCATGGCATATTGGCGCTAGTA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0017 a0001c0015t0017	a0001c0015t0017g0036 a0001c0015t0017g0036	1	38	0.0263	-1144	c.681 others(17): Show c.681-8790_681-7647del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
MYT1_chr20_64159452_64247253	64174083	CCTGTAGC others(1137): Show CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGACTTCTCCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCTCCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	212	0.0047	-1144	c.-99 others(18): Show c.-99+9347_-99+10490del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
SCML2_chrX_18234313_18359688	18261193	TTGCTATG others(1137): Show TTGCTATGTTGCCCTGGCTGGATTTGAGCTCCTGGGCTCAAGGGATCCTC CTACCTCCGCCTCCCAAAGTGCTGGGATTATAGGCATGCGCCACTGCCTG GACACAATCATGTTATTTTTCAGTACTGAATTATAATTACTGGGTTGACC ATGTCATTCTTTCACTATTTTAAAAATCTGAAATCTGAATCCTTTGTCTT GAGACATACCAAGATAGTATGTTTGCATTAACACTGCAAATTGAATAAAG GTACATTCATTAAGAAAATGTGCTCCTGCACTCCTCCCTTAAGGGGAGGA AGAAAATGACAACTTGTATCCAAATATGACATAGATCCCATAAATACATA CAAGTATTATGTATTCATAATAAAAAGTAAAAAACTTTTAAAATAATTTT TAAAAGATTAAAGTACCTGCCCCTTCTCCATCCCCATCATCAAATAAACA ATGTTTTCAAAGAGAGCTCTCCAAAATTATCAAATTAGCTTGGAACTGGA AACTAAAGGAGTCAAAGGAAACTATTTGGTGTTATCTTACATTTTCACCA TTATACCAACTAATCACAAAGACATTTCAGAAGCTGGAAAATATACACAC ATGTTAATTTTTTAATGCATTTAAAATATTATTTCACTTTAAATTTCACT ATTAACTTTTCTTACTTTTATTTTTCATTTAAAAAATTTCATCTGCTACC ATTTATATTAGAACAATCTGCCTGATTTTTTTCAATGTTCATGACTATAT TTTTGAAATATTTAGCTTTGACTTTTGATTTTTATTTTGTAAATTTTGAG TGTTTTTAAAGAAAAATAACAGTATCAATATATTTTAAAATCACAATGTT ATTTTTTTTCCATACAGCAAACATAAGTTGAAACAAAATGGAAATGTTAT AGATACTGATATCGGATGGCTGAACTCAGGAATGTGTAAGATAATACTGC TGGCATTTAATTCAGTCAGCCACAAGAGATCTGAAAAGATTCTATGTCTT TATATTTAGAGTGCATCTCTTGTAGACAGGACATATTTGGGTCTTTAAAA AAAAATCCATGTTGATAATCTCTGTCTTTTTAACTAGAAAGGATAATCCA CTAACTTTTCATGCAATTACCAGTATGTTTGGATCTGGGTCTACC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	245	0.0041	-1144	c.949 others(16): Show c.949-2046_949-903del	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	8/14			chrX	TogoVar
ZNF516_chr18_76352682_76500242	76393094	GGGCAGGT others(1137): Show GGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0008 a0004c0010t0008	a0004c0010t0008g0148 a0004c0010t0008g0148	1	288	0.0035	-1144	c.181 others(21): Show c.1811-13935_1811-12792del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
CLPTM1_chr19_44950380_44998341	44969848	CGGCTAAT others(1136): Show CGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCA GGTTGGTCTCGAACTCCTGACCTCAAGTGTTGGCTTCCCAAAGTGCTGGG ATTATAGGTGTAAGCCACCACGCCCAGCCTCGTTTTGGTTTTGGTATCTG TTGTTGCTGCTGATTCTCGCTCATAATGTCGTTTCCTTTTGTGCCTGGCT TATCTCTGTCTGTGTCCTAGTCATTATACTTGAAAAGTTATTTGTAGGAA TTTCAGGGCTAGGATGAGCATATTTTCCTACAGAGAGGATTGCCTTTGCT TCTGCCTGGGGGCATTACCAAGTCCTAGGTTTCCTTGCACCAGGTTCAGG GCTTGAGCTGCCCTTCGTGACTCCTTATCCCACGAGTGGCCTTGCATACT TCGCCCTGCATACCTGTTGTGCAACTCCTGGGAATGGGTAGGCCACCTGG TTCCTTCCTTCTCAGGGGTGGAGGCTTGCACCTTGTGGGGTCTTAGTTTC CTATAGGGTAGGTCTCTGGTTACCTCATATGTTGTATGTGCCCTGGGCTA GCATTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCT GGAGTGCAGTGGCATGATCGTGGTTCACTGCAGCCTCGACCTCCTGGGCT CAGGTGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGAATATAGGCATG GTGCGTGCTGCCATGCCTGGCTAATTTTTGTATTTTTTGTAGAAACTGTG TGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCACCTACCT CAGCCTCCCAGCGTGCTGGGGTTACAGGTGTGAGCCACCGCGCCCAGCCT AGGCCAGCATTTTTGTCACCCACCAAAACACCTAGCAGATGTCCTCGGAC ACATGAAGAAGCTTATAGGGCTCCTTTACTTATTCTTTTTTTTTTTTTCC CCTAGACCTGCAAATCCAAGATCCTTTACTTCTTTTTTTTTTTTTCCTTG AGATGGACTTTTTGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCACGATC TCGGTTCACTGCAACCTCCTTCTCCTGGGTTCAAGCGATTCTCCTGCCCC AGCTTCCCGAATAGCTGGGATTACAGGCATGCACCACCACTCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00735.hp1 others(28): Show HG00280.hp1 HG00597.hp1 HG00735.hp1 HG00738.hp2 HG01243.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02451.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03669.hp1 HG03942.hp2 NA18906.hp1 NA18906.hp2 NA19002.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001	a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0043 others(25): Show a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0006g0015 a0001c0001t0006g0041 a0001c0004t0001g0017 a0001c0004t0001g0049 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0006t0001g0029 a0001c0006t0001g0030 a0001c0006t0001g0031 a0001c0006t0001g0032 a0001c0006t0001g0034 a0001c0009t0001g0200 a0001c0009t0001g0201	31	372	0.0833	-1143	c.186 others(17): Show c.186-3187_186-2045del	CLPTM1	ENSG00000104853.16	transcript	ENST00000337392.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF516_chr18_76352682_76500242	76393156	GGGGGGAA others(1136): Show GGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03710.hp1 HG03688.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0028 a0001c0001t0016g0038 a0001c0001t0001g0028 a0001c0001t0016g0038	2	343	0.0058	-1143	c.181 others(21): Show c.1811-13996_1811-12854del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
CERS6_chr2_168451272_168780134	168730615	CTTACTGT others(1135): Show CTTACTGTGTTGTCAATTAGGTGCCCAACCTCAAATTCGTAACAAGCTCC ATGTCTCTCAGGGCAAGTTGCAGCTACCCAATGTAACTATCTTAAGTACT TTTTTGAAAGGACGGCATATAAACCCACTTATAATTTTCACAAACAGTTG TGTCTTAAGACTACTTTATATTCTACAGTCTGCAGCCATGCATTAAAGAG ACATTGCAAAATAAATATTTAATTTGATTTGTTTGGTGACTAATACATTG TGTTGTGATCTGTGAGTTATTCCGAAGTTATGAAGAAATGTAGAATCTAG GACTCATTAAAATATTTATTAAAATTGTTCAAAAAGGCCATTGGAAACAT GTTCAAAGAAATGATTCTGCATACATTCCATATAAGAATGACCAGACTGA AACAATTCCAAATGCTTTTAAATTCTGAGAGATACAGAAGTACTGTTTTA ATCACTTAATATTTTTAGATGGTCTTTGTAATTGATATATAAATATAGCA AAATGCATCTAATGAAATGGAATTGTCTGTTAGCTGTAATTCTGCTACCT AGTGGTGTATGCTAATTAAATAGGGAAATATTTGGGATTGTTTCCCAAAA TAACATCCAGAGAGTGCCCTGAGTCACTTCTGTTCCAAACGAGCCTCCTA CCTGCTAATTCTGTCGTGCTCTGCAGTCATAACTGATGTTAATCTGAAGC AGCACAAGACTGTGAACCATCAAATAATAGTAAAATATTTTTCAGTGGCT TTTTATTATACCTTTTGACTAATAATAAATGAACAAAACAAAATAAGGAA AAATTTCTAGTTATCACTGAGTTAACCAGAGTATTTCCATTAATCAAGAT TTTAGTATACCAAATTTTCTAGTTTTTATCTCATGGAAATATAAGGGTAT TTTATCTTTTGTATGCTACTGAAGGGAAAACATCATCATACAGCAATGAA TACTTCAAGGTGATGTTCAAGTATCATTTGACCATGGGAAGGGAGGGACA AAGGAGAAGTAGCAGGGGGTGGGGAATTATCTTGCCCCTTCCATGCAGTC ATCCAAGGAAGAGTTCTGGCATAACGATTTTAAATTCTGCATGAGGGACC TGGTGAGTCATCCCCAGCCACCCTTGGGGATTTCTCATCAGGT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0045 a0001c0001t0023g0045	1	174	0.0057	-1142	c.845 others(19): Show c.845+12675_845+13816del	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM149A_chr4_186099704_186180337	186175905	CTGGAATG others(1134): Show CTGGAATGTCTGAAGAACAGCAGAGAGGCCAGTTCATGGGATGCGCTTGG CAAGGGAGTGAATAATGGGAGCTCAGTGAGCTAACAGGAGCTGAGGGACT GAGGTCCCTTTTGGACTATGGGAAATATGAAATAAGAAGCCACTGGAGCA GTTGAGTTTTGGGGATAGAATGATATAATCGACAAGAGATGATCCTGTTT CAGTCAGATGATAGTGGTAAGGCTGATGAGAATCCCAGGACTTTGCATGT GTTTTGAAATTTGAGCCAAAAGATGTGCTGTTGGATGAGAGGTGGAGTGT GTCTACCAAAAGAATCGAGAATGCCTCCAGGCTTTTGGCTTCACACTTGG AAGGATGGTGTTGACACTCACTGAAATTGGAAAGACTGCAAGGGGAACAC GTTTGGCAGCATGAGGGGCAAGTTATGTGTGAGATGCCAATTAGATGCCT AAGTGGAGATATTGAGATATTTGGATATCCACACTTGGGTGTGGAGGTGA GGTATAGACTGGATGTATAAATTTGGGGATTGTCAGCACGTAGATGGTAT TTAAGAACTGAAATGGATGAGGCAACCAAGAAAATGAGTGTAGAGAAATG GAGGAAAAAGAAGTACTGAGCCTTGTGCCTTTTAACATCTAAAGGCCTGG GATGTGAAGGAAAACCAGCAAAGCAGACTGAGAAAGAATGGCTGGTGAAG GGAAATAAGAGTCAGGAGAATGTGGCGTCCTCAAAGTATGTGTGTGTTTG TGCGGGGGAAGTGTTTCAAGGAAGTGATAGGGACTCAAGTATGTTGAATG CTGTTGATGAGTCAATTACGATGAGGTCTGAGAATCAGACTAAAGGTCTA GCCACATGGAAGTTACTGGTGGCCTTGACAAGATCTGCTAGGTGAATGGA CAAGGCGAAAGTAGGCTTGCAGTGGGTTTGGGAGAAAAGAAGAAGAGAGA AATCCAAGACAGTAGTCATGGGCAAGTCTTCCAGGGAATTTTTCTGTACA GGGGAGTAGAGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCAT GCACGTGTGTTTCCTAGTAAGGTTCATCTTGATGAATGTCATTATTCAGT ATAAAAATGTTGATCCAAAAAGGAAGATAGCTCTAGTGTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA19062.hp1 NA18970.hp2 NA19062.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0003 a0006c0023t0053 a0006c0023t0003 a0006c0023t0053	a0006c0023t0003g0128 a0006c0023t0053g0129 a0006c0023t0003g0128 a0006c0023t0053g0129	2	386	0.0052	-1141	c.39 others(11): Show c.3919_*5059del	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding		569		chr4	TogoVar
ANKRD55_chr5_56094680_56238330	56133379	TAGTGAGC others(1133): Show TAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGGAAG ACTCCGTCTCAAAAAAAAAAAAAAACAATTAATTAATTGGATACAATTGA TGTCTACTGACTACTTCATCTAACAGCAAAATACACATTTTTAACAAGCT CACATGGGACCTTCACCGAGATAGACTACAGTCTGGGCCATAAAACAAAC CTTAACAAAAGTGAAAGAATAGAAATCATACAATGCAGGCTTTCAGACCA TGGTAGCATTAAACTACAAATCAACAACAGACAACTGGAAAATTTCTGAA CATGTGGAGATTAAACAATATAAGTAACACATGGTTCAAAAGAAGAAATT GCAAGATAAATTAAAAAAATACTTTGAACAAAAGGAAGATAACATCAAAA TTTGTGGGATGTAGCAAAAACAATTTCTCAGAAGAAAATTTACAGCTTTG AATGTATATATTAAAAAAGAAGAAAGATCTAGAATCAATTATATAAGCTT ACATCTTAGGAAGCTAGAAAAAGAAGAGCAAATTAAATCCAAAATAAGCA GAAGAAAAGAAAAAATAAAAATTAGAGAAGAAATCAATGAAGTAGAAAAC AGAAAATCAATAGAGAAAATCAATGAAACCAAAAGCTGGTTCTTAGAAAA GATTAATAAAAGTGATAAGCCTCTAGCCAGGCTAGAAAAAAACAGAGGGA AACAAATTACTTAATATCAGAAATGAAAAAAGGTACTTCACTACAGATCC CATGGACATTAAAAGAATGATGAAGAAATACTTTAAACAACTCTATTTTC ACAACTTGATAACATATTTGAAATGGACCAATTCCTTAAAAGACACAATC TACCAAAACACCCACAAGGAGAAATAGATAATCTGAATACGTTTATGTCT ATTAAAGAAACTGAATAGGCTGGGTGCGGTGGCTTACGCCTGTTATCCCA GCACTTTGGGAGGCCGAGACAGGTGGATCACCTGAGGTCAGGAGTTCGAG ACCAGCCTGGCCAACATGGCGAAACCTGGTGTCTACTGAAAATACAAAAA ATTAGCCTGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAAGC TGGGGCAAGAGAATTGCTTGAACCCGGGAGTTGGAGGTTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(111): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01952.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp1 NA18953.hp2 NA18957.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp1 NA18983.hp1 NA18986.hp2 NA18991.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19077.hp2 NA19084.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0010	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0003c0008 a0003c0019 a0005c0006 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0003t0001 a0001c0003t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0005t0001 a0003c0008t0001 a0003c0019t0002 a0005c0006t0001 a0010c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0278 a0001c0001t0002g0044 a0001c0001t0002g0056 a0001c0001t0002g0091 a0001c0001t0002g0124 a0001c0001t0002g0137 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0257 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0295 a0001c0001t0003g0300 a0001c0001t0003g0305 a0001c0001t0010g0253 a0001c0003t0001g0117 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0004g0102 a0001c0003t0004g0247 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0020 a0002c0002t0001g0045 a0002c0002t0001g0059 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0113 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0157 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0179 a0002c0002t0001g0182 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0194 a0002c0002t0001g0213 a0002c0002t0001g0227 a0002c0002t0001g0232 a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0246 a0002c0002t0001g0281 a0002c0002t0003g0283 a0002c0002t0003g0284 a0002c0002t0006g0123 a0002c0002t0006g0255 a0002c0005t0001g0011 a0002c0005t0001g0192 a0002c0005t0001g0195 a0003c0008t0001g0088 a0003c0019t0002g0104 a0005c0006t0001g0161 a0010c0009t0001g0205	114	306	0.3725	-1140	c.613 others(17): Show c.613-7413_613-6274del	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	7/11			chr5	TogoVar
C1orf159_chr1_1076823_1121089	1077301	CGGGAGGC others(1133): Show CGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTG AGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTG GGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0301 a0001c0002t0004g0301	1	135	0.0074	-1140	c.44 others(11): Show c.4452_*5591del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4521		chr1	TogoVar
LMF1_chr16_848634_975984	948506	CGACAGAG others(1133): Show CGACAGAGTCAGAGCCAACGACAGAGTCAGCCAATGACAGAGTCAGACAC AGCGACAGAGTTAGAGACAACGACAGAGTCAGCCAACGACAGAATCAAAG ACAATGACAGAGTCAGCCAACGACAGAATCAGAGACAACGACAGAGTCAG CCAACGACAGAATCAGAGACAATGACAGAGTCAGCCAACGACAGAATCAG AGACAACGACAGAGTCAGCCAATGACAGAGTCAGAGACGACAGAGTCAGA GCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAGAGTCA GCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAGAGTCA GCCAACGACAGAGTCAGAGCCAATGACAGAGTCAGCCAACGACAGAGTCA GCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGCCAAGGACAGAGTCA GAGCCAACGACAGAGTCAGTCAACGACAGAGTCAGCCAACGACAGAGTCA GAGCCAACGACAGAGTCAGTCAATGACAGAGTCAGCCAACGACAGAGTCA GAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGACAATGACAGAGC CAGCCAATGACAGAGTCAGCCAACGACAGAGTTAGAGACAATGACAGAGT CAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGCCAATGACAGTCAGC CAACGACAGAGTCAGCCAACAACAGAGTCAGAGCCAACAACAGAGTCAGC CAACGACAGAGTCAGAGACAACGACAGAGTCAGCCAATGACAGAGTCAGA GACAACGACAGAGTCAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGA GACAATGACAGAGTCAGCCAATGACAGAGTCAGAGACAACGACAGAGTCA GCCAACAACAGTCAGCCAACGACAGAGTCAGGCCAACGACAGAGTCAGCC AATGACAGAGTCAGAGCCAACGACAGAGTCAGAGACAACGACAGAGTTAG AGACAATGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAGAGTC AGAGACAATGACAGAGTCAGAGACAACGACAGAGTCAGAGACGACAGAGT CAGAGACGACAGAGTCAGAGCCAATGACAGAGTCAGCCAAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0019 a0019	a0019c0042 a0019c0042	a0019c0042t0001 a0019c0042t0001	a0019c0042t0001g0083 a0019c0042t0001g0083	1	292	0.0034	-1140	c.503 others(17): Show c.503+4711_503+5850del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MAP2_chr2_209419047_209739112	209540495	GTGGCACG others(1133): Show GTGGCACGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAAGCGGAAGAAT CACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCATTG CACTCCAGCCTGCGTGACTGAGTGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAAGAAAAGAAAAGAAAATCACAGCACTTTAT TTTGATGTTCATGTCATTGACTAAATATATATAGGGTTGTTAAGTAATAG TCCTAAATACTCCAAAGTATCTAATGCACTTAAGAAATGCATTGAGGATT TTCAAAATATATTTGCTCTTGAGATCCTCAATCTACTGTATGCATTATAC AGACGTACCCTGGAGTTACTGCAGGTTTAGTTCTAGCTGCCACGATAAAG CAAGTCACATGAATTTTGTGTTTTCCAGTGCATACAATAGTTACGTTTAC ACTATACTGTGGTCTATTAAGTGTGCAATAGTATGTCTAAAAAGTACATA CCTTAATGAAAAAATACTTTATTGCTAAAAATACTAATGATTTTTTCGTT TTTTGAGACGGAGTCTTATTCTGTCACCCAGGCTGGAGTGCGATGGCACG ATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGCAATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATCATGCCTGAC TAATTTTTGTATTTTTGTAGAGATGGGGTTTCACCATGTTGGACAGGCTG GTCTCGAACTTCTAACTTCAAGTGATCCATCTGCCTCGGCCTCCCGAAGT GCTGGGATTACAGTCATGAGCCACCCGCGCCTGGCCCTAATGATCATTTA AGCTTTCTGCAAGTCATAGTCTTGTTGATGAAGGGTCTTGCTTCAATGTT GATGACTGCTGACCGATCAGGGTGGTGGTTTCTGAAGGTTAGGTTGACTG TGGCAGTTTCTTAAAATAAGATAACAATGAAGTTTACCACATTGGTTGTG TCTTCCCTTCATGAAAGATATCTCTGTAACATGCAATGTTGTTTGATAGC ATTTCAACCACAGAACGTCAAATTTGGAGTCAATCCACTCAAACCTTGCC TCTGGCTCATCAACTTAGTTTATGTAATATTCTAAATCCTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02257.hp1 others(11): Show HG01891.hp1 HG02055.hp1 HG02257.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0013 others(1): Show a0001c0001 a0001c0003 a0001c0013 a0002c0005	a0001c0001t0033 a0001c0003t0006 a0001c0003t0018 others(5): Show a0001c0001t0033 a0001c0003t0006 a0001c0003t0018 a0001c0003t0036 a0001c0013t0006 a0002c0005t0008 a0002c0005t0011 a0002c0005t0027	a0001c0001t0033g0007 a0001c0003t0006g0003 a0001c0003t0006g0004 others(11): Show a0001c0001t0033g0007 a0001c0003t0006g0003 a0001c0003t0006g0004 a0001c0003t0006g0023 a0001c0003t0018g0005 a0001c0003t0018g0016 a0001c0003t0036g0006 a0001c0013t0006g0071 a0002c0005t0008g0134 a0002c0005t0008g0135 a0002c0005t0008g0136 a0002c0005t0011g0072 a0002c0005t0011g0073 a0002c0005t0027g0070	14	146	0.0959	-1140	c.-17 others(21): Show c.-172+32857_-172+33996del	MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARN_chr16_14430701_14635260	14455613	AAAACTTA others(1133): Show AAAACTTACATCTTCCAACAAGACTTGGAGGATTTTGTAAAGTATACTCA TGTGCAAAACTCAATAGATTTTTATTGAGAAGAATGACTCACTATTAATA GCAGGCAGGGCCATAAACATACACTTGCAATATGGTGACAGTGACAAGCA AGAATGACGTGATTGGAATGTGACCCCTTCTCTCCTACATGTTGCTGTCC TGGTTCTGAAATGACGACCTTAATCTCTGACTCCATGTGTCGCTGACTGT GCTCTTGCCTTTGACCTGATGCTGGATAATTCCTTTAAACTAGTAATGCC CATGTTGGCTGTTAAAATTTTAGTTCTCGCAGAATATTTCCTTTTCCTGA TTTCTTGACTCATTTTTCTCACAATTTGGAATAAGAGACAAATGTCTCTA AATGCCAAGAAGGAATTCCTGCATGGAAAAACTATGGGAAATCAACTGAT CACACATATGTGGTTGTATTCTTGGACTCTCTATTCTATTTTGTTTCACT ATCTGTCTTTCCTTACCCAGCCCCACACTGTACTACTACAGTTTTACAGT AAGTTTTCTTTTTTTTTTTTTTAAACTGATGGGGTCTGGCTCTCTCACCT GGGCTAGAGAGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCC AGGTTCAAGCGATCCTCCTACCTCTACCTCCTGAGTAGCTGGGACTACAG GCATGCACTACCACACCTGACTAATTTTTAATTTTTTTGTAAGGATGGGG GTGTCTTGCTATGTTGCCTCAGGCTGGTTTTGAACTTCTGGGCTCAACTG ATCCTCCCTCCTTGGTCCCCCAAAGTGCCGGTATTATAGGCGTGAACCAT CATGCCTGGCCTACAGTAAGTCTTAAAGACAGGTAGAGCAAGTCCTTTAG TTGGCTGGAACGTTCATGCGCTGTATAAAATAACAGTACCCTTTCATTTT AAAGAGCTGCTGTTTGCAACATTCTCATATTTGGTAACTGTATATGACCC TTTTAAGCTGGACACATGTACACTCCCATTTTGCAGACAAGAAACCTCAT CTTCAGGGTAAATGACCTCCCCCAGGTACTGCAGCTGGGCAGGTGGCTCT GAGATTGCACTCCAAGTTCAATGTTCTTGGCACTGCTTTAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0156 a0001c0001t0005g0156	1	168	0.0060	-1140	c.167 others(19): Show c.1671-9672_1671-8533del	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	22/23			chr16	TogoVar
RNF223_chr1_1065967_1079306	1077283	TCTATGGG others(1133): Show TCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCTGTGCCG GGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGA CTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAG TCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGA CTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAG TCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGA CTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAG GCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTCTATGGGGA CTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAG GCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	67	0.0149	-1140	c.-44 others(11): Show c.-4417_-3278del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2978		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077301	CGGGAGGC others(1133): Show CGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTG AGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTG GGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0006 a0002c0002t0004g0006	1	125	0.0080	-1140	c.-44 others(11): Show c.-4435_-3296del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2996		chr1	TogoVar
SAMD3_chr6_130139315_130227951	130185681	TGTGCAGT others(1133): Show TGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGTCTCA AGCAATCTTCCCACTTCAGCCTCCCAAATAGCTGGGACTACAGGCACGTG CCACCATGCCCAGCCAATATTTTTTATTTTTTGTGGAGATGGGGTCTCAC TATGTTGCCCAGTTTCATCTCGAACTCTAGGCTCAAGTGATCCTCTTGCT GTGGCTTCCCAAAGTGTCGGGATTACAGGCATGAGCCAACACAGCTAGCC TCTTGTTCACTTTAAATGGGTGAACTTTATGCTATGTAAATGAAATGTCA ATAAGGCTGTTTATAAAATTATCAGAACAATGTTCAAGCCTTAAAGTTAG TGACTGACCACTGAGTATGCAAAATGAAGACTCTATAATATTAATAAAGT GTCCAAGTAACAATTAATCAAAGGCACTAGGTAGCTCTTAACCCATTTAT AAATAGGATCGATTTGTGGTGGAAGTAAAGAAACAGAGGCAAGCCAAGTA GAAGACAACAGGAAGATTTCCTAAATTGGCCTAAGTAGGTTAATTTTCTG ATGACCATGGAACCTTTAGTGGCCCAAGCAACATTCAGATGAATTTTGAA AGACTAGGATTCTTTTAGCATTTTAGGTCATCCTTTATAAGAATGCACGA GCTATAATGTGATATGGAGAATCAAGCACACAGGAGAAAGCACTCTCACA TCTATTTTTATGATAAGCTCCCTTTCCTTTTTTCCCCCTTTGGCGGTCCC TACTATATCAGTGGCGAAATTATGTCCTGGCTAAAATAAGCACACCAGTA TTTAATACTTGACCCAATACCACAACAGGATATTTCCAGATGTAAGTCTC CGCTGCAGCCCAATCTATTTTCTAGTATGTTTCTCTTTCATTTTGTTCAT TCATTCAACCAGTATTTATTAGGGGTCTACTAAATGCGAATTACTCTTTC ACAATCCTCATTTTCTTCCATATTCTATTACTTTGTTTCTTTCTCCCATG GCCAAATTACCTCTCCTGTATCTACTGAGACCTAGAAGTATAAAGTAATG GCCAGTTTTGTTGGATGTCTTTTGTGCCTTCCTGGGATTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03831.hp1 HG03710.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0227 a0001c0001t0002g0138 a0001c0001t0002g0227	2	336	0.0060	-1140	c.384 others(17): Show c.384-2198_384-1059del	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	5/11			chr6	TogoVar
ADGRL3_chr4_61195326_62083335	61418421	GTTTTGTC others(1132): Show GTTTTGTCTTCACAATGGCAGCAAATTTAGATAAAATTTTGTTTGGGGTC ATCTTGTGTGCATTTCTTCTGTATCTTCAGCATGGTCTGTGCCTTTGTCT TTTTGCAGTATGTTTTTCTTCCTATTGATACTTTCTCTTGTCTCACTAAG AGCTTTGTTCTTTGATAAAATAATACAGATTGATAAATTCCACAAAGGAA AACAACGCACTGAATTAAAACAGACTATTTAAATACAGAAGCAGCATTCT GTTCAGATAATTCTCAGTAGGGCCAAATCTTTGTTCATTTTTAAATAAAA TGATCTATTCATTCACATTAATATGTGTTAATGAAATTAATGTGGCATGG TACTTAATATTATTAATTGTGTTAAATGTTCATGCTTCCATGAGGGCCAT TTAAGAAGAGGTACTCAGTTGGATATACAGGTAGCATACAGTAACATTTA AAACTTCTATCGTGTATAAAAAGAAAAAAGTTAAATTAATTTAGAAGTTT ATTTACAGTTTAGTGACTATAAATAGAAATCCTATGTCATGAATTTCAAT AATTTACTTGATTTAGAAAGCTTTACTATGGTTTCAATGACATTGTAATT CTCAGAATGCATAGCTTAGATGACAATTATTTTGTTAAGAATGTTGGTAT ACTTTCTCACAATTTAAAACATGTAGGTAGATTTAATATATAATATACAG TAAATCTTCAGTTAACATAATTAGTAGGTCTTTGGAAACTGCTATTATAA GTAAATGAAGTGATGTATAATGAAACCAATTTTACTATATGCTTATTAAT GGAAGTGAGTTAAGTTCCTAAGGTATATTTCTGATCACAAAAACATCACC AATTTCTAAATAAAGACCAAAATACTTCTAATATTAACATTGAAATAAAT GTGAGCTCTATATACATTTAAGAAAGAATAATGAAAACAAGTGAGATAAC TATTTATTCACTTATTCCAGTTCAGGGTCGCCAGTGGCCAGAGCCAACCC AGGGGGCAAGGTGGAAACCCACCCTGGACAGGATGTCCATCCATTGCAAG GCACACTCACACAGCCACCCACACTCAGACTGGAACCACTGAGTAAGAAC AGTTGACCTAATGTAAACATACTTAATTTGGGATATGGGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG02735.hp1 others(1): Show HG02559.hp2 HG02717.hp2 HG02735.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0017 a0001c0002 a0001c0006 a0001c0017	a0001c0002t0030 a0001c0002t0034 a0001c0006t0006 others(1): Show a0001c0002t0030 a0001c0002t0034 a0001c0006t0006 a0001c0017t0028	a0001c0002t0030g0055 a0001c0002t0034g0054 a0001c0006t0006g0033 others(1): Show a0001c0002t0030g0055 a0001c0002t0034g0054 a0001c0006t0006g0033 a0001c0017t0028g0019	4	56	0.0714	-1139	c.-17 others(21): Show c.-174+35233_-174+36371del	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	2/26			chr4	TogoVar
DHRSX_chrX_2214506_2505976	2278993	AGAGGGAG others(1132): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGA GAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGA ACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGG GAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAGAGAGAAAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAA GAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	47	0.0213	-1139	c.388 others(19): Show c.388+11370_389-12047del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
NXN_chr17_794310_984776	820561	GAGATCGT others(1132): Show GAGATCGTGCCACTGCACTCCAGCCCGGGCGACAGAGCGAGACTCTGTCT CAAAAAAAAAAAAAAAAAAAAAAGTGATTGTGGCCAGACATGGTGGCTCA CACCTGTAATCCCATCACTTTGAGAGGCCAAGGTGGGTGGATTACTTAAG CCCTAGAGTTCCAGACCAGCCTGGGCAACATGGAAAAACCGCATCTCTAC TAAAAATACAAAAATTAGCCGGGTGTGGTGGCCGGCGCCTGTAGTCCCAG CTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGAAGGTGGAGG TTGCAATGAGCTAAGATCGCACCACTGCACTCTAGCCTAGGCAACAGAGC GAGACTCCACCTAAAAAAAAAAAAAAAAACAAAAAAAAAAACTGACTGCT GCACCTGGCACGGCTTCACGCTGAGACGGGAGCTGTGGCATGGCAGAGAC GGGAGCTGTGGCATGGCAGAGACGGGGAGCTGCGGCACGGCAGAGACGGG GAGCTGTGGCATGGCAGAGACGGGAGCTGTGGCACGGCAGAGGCGGGAGC TGTGGCATGGCAGAGCAGGACTGCGGGCCAATAAGCCAAGCCCAGGATGG TGTGGACACCGCAGATACAACAATGTACAAAGTGCCCTGTGTGTGCCGGC ATCTCGGATCCTTTTGGGAACAGGAACATAAGCGGCAGAGGCCACTGGTG ACTCAGTCTAAACTGGGGCGGGAGTTTTGAGGTGAAGGAAATTCACTGAT AAGTGAGGCCTTAGAGAGGGCAATAAGCAGAGGAAACTGAGGCTCAGAGG AGCTGACTGACTCCGGGAAGAATGCCTGTTTTGTGATTCCTTATCCGCGT GTATCCGTGTACATTCAAATAGCACCAGACACAGCAAAGGGCCAGAGCTG AGATAACAGCCATCCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGC ATTTTGGGAGGCCAAGGCAGGAGGATCACGGGGTCAGGAGATCGAGACCA TCCTGGCTAACATGGTGAAACCCCATGGCTAATACAAAAAATTAGCCAGG CATGCTGGTGGGCGCCTGTAGTCCCAGCTATTCGAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(155): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0002c0004 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0002t0001 a0001c0002t0008 a0001c0003t0002 a0001c0003t0004 a0001c0005t0005 a0001c0006t0001 a0001c0008t0013 a0001c0009t0006 a0002c0004t0004 a0002c0004t0009 a0003c0010t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(155): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0149 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0065 a0001c0001t0003g0078 a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0127 a0001c0001t0003g0143 a0001c0001t0003g0151 a0001c0001t0003g0165 a0001c0001t0003g0175 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0193 a0001c0001t0003g0199 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0227 a0001c0001t0004g0016 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0045 a0001c0001t0004g0096 a0001c0001t0004g0129 a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0004g0158 a0001c0001t0004g0224 a0001c0001t0005g0031 a0001c0001t0005g0055 a0001c0001t0005g0059 a0001c0001t0005g0108 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0123 a0001c0001t0006g0144 a0001c0001t0006g0155 a0001c0001t0006g0168 a0001c0001t0006g0172 a0001c0001t0006g0183 a0001c0001t0006g0202 a0001c0001t0007g0023 a0001c0001t0007g0040 a0001c0001t0007g0073 a0001c0001t0009g0008 a0001c0001t0009g0009 a0001c0001t0011g0013 a0001c0001t0011g0174 a0001c0001t0013g0220 a0001c0001t0014g0109 a0001c0001t0014g0113 a0001c0001t0015g0239 a0001c0001t0015g0240 a0001c0001t0016g0001 a0001c0001t0017g0002 a0001c0001t0018g0005 a0001c0001t0020g0164 a0001c0001t0021g0019 a0001c0001t0024g0011 a0001c0001t0025g0200 a0001c0001t0026g0173 a0001c0001t0030g0237 a0001c0001t0032g0242 a0001c0001t0033g0241 a0001c0002t0001g0042 a0001c0002t0001g0223 a0001c0002t0008g0022 a0001c0002t0008g0179 a0001c0003t0002g0232 a0001c0003t0004g0234 a0001c0005t0005g0080 a0001c0006t0001g0089 a0001c0008t0013g0196 a0001c0009t0006g0159 a0002c0004t0004g0197 a0002c0004t0009g0198 a0003c0010t0001g0236	158	240	0.6583	-1139	c.713 others(16): Show c.713+657_714-1017del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	4/7			chr17	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(1132): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0077 a0002c0002t0016g0077	1	310	0.0032	-1139	c.462 others(15): Show c.462+36_462+1174del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
ZNF516_chr18_76352682_76500242	76393499	AGGTGGTC others(1132): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAG GGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTG GTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02809.hp2 HG02559.hp1 HG02572.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0065 a0001c0006t0026 a0001c0006t0058 a0001c0004t0065 a0001c0006t0026 a0001c0006t0058	a0001c0004t0065g0116 a0001c0006t0026g0106 a0001c0006t0058g0115 a0001c0004t0065g0116 a0001c0006t0026g0106 a0001c0006t0058g0115	3	330	0.0091	-1139	c.181 others(21): Show c.1811-14335_1811-13197del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
PCGF3_chr4_700832_775089	745044	CGGGGGTC others(1131): Show CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCT GCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTC TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	317	0.0032	-1138	c.462 others(16): Show c.462+361_462+1498del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745410	TCCGTGGA others(1131): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG	T T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	265	0.0038	-1138	c.462 others(16): Show c.462+779_462+1916del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745467	TCCGTGGA others(1131): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	279	0.0036	-1138	c.462 others(16): Show c.462+811_462+1948del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745866	TCCGTGGA others(1131): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0359 a0001c0001t0002g0359	1	280	0.0036	-1138	c.462 others(17): Show c.462+1324_462+2461del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745439	CCCGGGGG others(1130): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG TCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	358	0.0028	-1137	c.462 others(16): Show c.462+754_462+1890del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745496	CCCCGGGG others(1130): Show CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	362	0.0028	-1137	c.462 others(16): Show c.462+816_462+1952del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746412	GGGGTCGC others(1130): Show GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0127 a0001c0003t0010g0127	1	362	0.0028	-1137	c.462 others(17): Show c.462+1728_462+2864del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PPP4R4_chr14_94169322_94284734	94172401	AAGACCAC others(1130): Show AAGACCACACTGCACAAGGCTAAAATTTGATGCATTAGGCTAAATGAAAA TTAAGGATTTCTCCTCCATTGCAGCATAGCAAAGACCAAGCAAACAGGAT GCATGAAAGATTGAGAGAAATATTTGCAGTGTTTTTCTAAAACTGACAAA AGATTAATATTTAGAACATATAAGAAACTCAACTGCTTCAATTCATTCAG AAAAAATAATAAAATCCAGCAGAAAATAGGTAAAGGATGTAAATAGATAA TTCACAGAAGGAAAACAATCTCGATGGTTCTTAAGTATATGGAAAAATGG TTAACACCACCAATCAAAAAAATACAAATCGAAATTACAATGTGATACTA CTTTACTGATTTCAGATTGACATAAATTAGGACATCGGATAATACCAAAT GTTAGCATATAAAATGGGAAACGGGTACCTTCCTACCTTCATGTGCCATT GGTGGGTGTGAATGGCAAAGCCATCTGGAGGCCAACATGACAGAGTGAAA CCAAACACTGTGGACTTCATGACCCAGCGACTCAATTTCTTATGTTCTGT AAGGGACACGTCTAACATCCATTCCAGCATGGTCTGTGGTAGTAAGGAAC TGCTGGCGACCTAACTAGCCGTTATTTGAGGAATTGATAAGTAGAATATG ATAGACACACAAATCAAATATTATTATTAGTCATTATTAATGAACTCTTG TTGTATAGTGTCACATGGATAGATCTCTAAGACACTGAGAGAAAAACAAG GAACAGAATGAGTTCTCATCACAATGCCGTTCATATATGTTAAAAACAGA CACAAACCATGTATCTTTTGAGGCTGTATACGGTGCATGAACTGGGACAT ACCTTAATAGAGGAGAGGGTGCATATGGCGGGTAGAAGAATGGGTGTGGA GAAGGAACGAGTAAAAAATAAAAACAAAAAAGAAAAGGGCCTTGCTGACT GACGAGCTGAACAGTACGAACTTGTCCCCAAGGTCCAAAAAAATCGCCCC AATCCCCCTTCCATCTCGTCCCATTCTTAACAGAACCAAGTGCAAGGGAC TCAGCGTGGCTGTCCAGAGCAGGGCTTTTCTTCATCAAGGACCTAGGTCC TCTTCCTTCCACCCACCTCGCCACGCCCTCGGTGCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	306	0.0033	-1137	c.-20 others(10): Show c.-2064_-928del	PPP4R4	ENSG00000119698.12	transcript	ENST00000304338.8	protein_coding		1920		chr14	TogoVar
PCGF3_chr4_700832_775089	745099	CCCCGGGG others(1129): Show CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	359	0.0028	-1136	c.462 others(16): Show c.462+419_462+1554del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPRA_chr20_2868481_3043669	3032576	GCCAACAT others(1129): Show GCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGG CGCGATGGTGCATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATCGTTTGAACCAGGGAGCTGAAGGTTGCAATGAGCCAAGATCGCGCC ACTGCATTCCAGCCTGGTGGCAGAGTGAGACTCCATCTCAAAAAAAAAAA AAAAAGAGTTGGCTTTCTCCCTGCAAGTTCTCTGTTCGCTCTGTTCCTTC CAGGCTTGGCCCCACTGGGACTGCTTTAGTCAAGATCACCAGTGACTGTC CTCTTGCCAAATCCAAAGGTCATTTCTCTTTTCTGATTTTTTTTTTTTTG TCCTTACAGCAGCATTTGAAAGAGTCAGTACCTCCCTCCTCTTCCTCAGA ACACTTACTTCCGTAGCATCACCCCACTCACTAACCTGGCAGCTCCTTTG TTATTTCTTTGTGACCTCCTCCTCTAAAACATTGGAGTATACTAGACTCG GGCGCTAGCCCACTCTGTTTTCTTTTGACACACTAGCCCTTCAGGATCTC AGCCAGTCCTATGGCTTTAAGTACAACCCATATGCCAGGGATCCTCAATC TGCGTCTCTAGGCCAGTCACCTGTCCCCCTTCCCAATGTGGGCTCCTGAT TTCCTCCTTCCCCCGACACCAGTCCACCCCACTCTTAGCCATCTAAATAA ATAGTACCACCTTCTGCCCAGTTGCTCATGTCTAAAATCCGGGAGTTACC TTCCTTCCTCCCCTCTCCTCACCCCTCACATCCAGTCTGCCACTGAGTCC TGATACAGGCAGAGCCTCCCCACTTTTCTCCAGCGTAACTGCTGTCATCT GAACAAGCCCTCGTCTCTCACTGCTTGCCCGTGGGACTGTGGGCATGACT CATATGCGCAGCCTCGTCTGCAGTGGCCTGGCAACTGGTCCTCCTGCTCT CATCCTAACCCACTTTTAGTTTTTCAAATGGCAGCTGCTGGTCCTTTTGA AAATATAAATCATTGTCACTCCTTGTCTTACAAATCCTGTTTGAGGCCAG GTGCGGCAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0283 a0002c0002t0001g0283	1	328	0.0030	-1136	c.192 others(19): Show c.1921-2999_1921-1864del	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
ZNF516_chr18_76352682_76500242	76392812	AAGGCAGG others(1129): Show AAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18998.hp2 NA18973.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0215 a0001c0001t0004g0290 a0001c0001t0001g0215 a0001c0001t0004g0290	2	263	0.0076	-1136	c.181 others(21): Show c.1811-13645_1811-12510del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ANKRD33B_chr5_10559070_10662816	10638958	AGTTGCAC others(1128): Show AGTTGCACGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAG GCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCG CGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGGCGGTGA CGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGAT GTTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAG TTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGC GGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCG GCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACG CGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGT TAGCGGGTGACGCGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTT GCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGG TGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGC GATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGCG GAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTA GCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGC GCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTG ACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGA TGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGC GTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGTGCGGCGATGTTAGC GGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGC GGTGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGAC GTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGAGTTGCACGGTGATG TTAGGCGGTGACGTGGAGTTGCGTGGTAATGTTAGC	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0213 a0001c0003t0007g0213	1	322	0.0031	-1135	c.637 others(16): Show c.637+792_637+1926del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
MYT1L_chr2_1784113_2336275	2174558	GTGGAGAC others(1128): Show GTGGAGACTCCCTCCCAGACAACGCAGTTTGATGAGGATGAATGTGCGCT TAGTGGGTACTCACTGTGAGGTGGCCTCTTTTATTTTGACCTTTTTAACT GGGTCCCTACTTCCTCAATCAGATTATACTAAGGCAACTAGCATATAAAC TTGACATTATTGATACTGACATAATATTATGATTTAAAAATATAACTATT CATCAAATGTTATTGATTGTATGGACTGTCATTACTGCTGGGTTAGCAAG ACCCATCTCAGCCAATCTTGGTGTGAACATTTGTTGAGTGAATAAATCTC TCTGAAGTTCAGGTTCTGTATCTGACAACAGCAGGGCTAGGCTAAAAGTT TAAATCTGTTTTTTAGCACCAAATGCTTTAAGTAAGAATCCCACTGCTGT GGCACCTGATATGAATCCCCAGGCAGCAAGTGAGCCATGAGTAGAGAAGT GTGGTGCTCTCCTTGTGAGGCTCACTCAGACCTCCTTTCTATGTGTGTTG TATGTTGAGTGTGAATTCGTAGCTTTGAGTCTTGGCTCAGTGGTTTCGGG AATTATCATGCAAATGTCCTCTCTGAGAAGGGCCTCCACCGTGGGGCACT GCTGAAGGAAGGAAGAACCAAGCCTGTCTTCCTCCACCCTCTCTTGCCAG GGCGGTGCCCACCACCCCTGTGGGACACAGATGGAAAGAAGCCAGCTCCT GGTGACTTTTCCTGGAGGTATCAGCATCTGAGGTGCACATATTCTTTCCT GCTATCATTGCTTTTCTAAGATTTCTTGTCAAGAAGACCTTTTGTTTAGC TAAGTGTTGCTGAAACGGCAGTGCCTGTGCCTGTCTGGTAACCTGAATCA CACCTGTAGGATTAGCTACTAGTGGAAATGGGTCACGCTCTTTGTTTTTC ACCCTAAAAGCTCCGTGTGAGATTGGTTAAAAGATGAGAGCTACACGTTG ATAGTGCTTCTTTCTCAGACGTATAACACTGAACAGCAAGAACCAGACAA ATGCCTGACAAAAGCCCACCTCAGACACCACCGTAAGGAGAAGGCGAAAC CATCCTCTGTGAACTGAGTTTCAGAGGAGCCTCTGCAAGGCAAGGATGCC CGAGCCTGGTTTTACATACTTTCCTGGACCCTTGCC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG06807.hp2 HG02647.hp1 HG03209.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0009 a0001c0003t0009 a0001c0005t0010 a0001c0001t0009 a0001c0003t0009 a0001c0005t0010	a0001c0001t0009g0021 a0001c0003t0009g0096 a0001c0005t0010g0074 a0001c0001t0009g0021 a0001c0003t0009g0096 a0001c0005t0010g0074	3	102	0.0294	-1135	c.-42 others(19): Show c.-420-2705_-420-1571del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
SHROOM4_chrX_50581796_50819194	50717579	TGTATTCT others(1128): Show TGTATTCTCCACCTCAACCCCACACACCAGTGTCTCTCTTGGCAGTGCTG GGACAGAAGGGACAAGAACATTTACATCACTTCCACCAGATAGTCCTTCA GCCCACTTAAAAAGACTCCAAGCCAGCATCTCCCCAGAAGGCAGCAGTCT TCAATTACTCACATTAGGGCAGCAGTTTTCACCCCAAATCTCAAAAGGCT TTCCAGCACTGTGGGTAAGGAAAATTTCCAGAGAGATGACTTTATGTCTC AGTTCCATTAAACATTCATTGTGTGGCTGAGATGTACTCTTGGAATACTT CCATTTCCCCAGTAATAGAATGGAAATAATACTTGCTCTTTCCCTCCCTT CCAAGGACACTGGAAATGTGAATAACATTCATGAGGTCTGCAAGAAGACC AAGAAAGTGCCCTGCACCAGGTTCAGGCCTAGATCCTGAAGGTTTTTAGA GGATTACAAACAGAATGGCTCCATCTACCAACATCCTCTATGATAAGCAA CAAACATATACTGAGTGTCCACTGTGTGCTGGGTCCAGAGCTTGGCTTTG GGGCTACATTGGTGAGGAAGCCACTTGTCCCTACTCTCAAAGGGTTCCCA GTATTGTGGTAGAGACAGGCATATAAATCCAGATGCGGAATATGATAATT TCAATTTGCTGATATCTGTGTGGAAAAGTTGTGAGAGATAAGCTGGAAAC ATGCACTGGGATGAGATGAATCATGAATGCAAAAGTAATCCTAAACATAT ATAAAAACCAATATAGCAGCAGCAGCACCAACAAAGCAGAATAGATGCAG GTCAGTGCATGGAACAATGTCCTCCAGGTCCCTTGCTGTGCTGGGCACTA ACCCTTTAGTGGCTGGGTCCAAGAGTTGGGAGGGGCAGCTGGGGCAGCAG GAGGGGTCTTGAAGAGGCTCAAAGAGCCTCTCAAAGGATCCCATAATTTT AACAAGAAGTGTGGTCATATCAGTGAATACTAGTTAAATACAGCCCTGCT TCTATGTCATGTGAATGAGCATGAGTGCTACCTTGTGGTCATCCAGGAGC CCCAAAATGTCATTGGGTTGGAAACACACTTTAGCAGCAGTGTGGAAGAT GGGCTAGATTGGGGCACCATGAAGTCAGGCAGATAA	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	173	0.0058	-1135	c.118 others(19): Show c.118-22777_118-21643del	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8			chrX	TogoVar
BRSK2_chr11_1384934_1467689	1429644	CGGTCTGG others(1127): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02273.hp1 HG06807.hp2 HG01993.hp2 HG02273.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0004 a0001c0015t0018 a0001c0001t0004 a0001c0015t0018	a0001c0001t0004g0174 a0001c0001t0004g0182 a0001c0015t0018g0185 a0001c0001t0004g0174 a0001c0001t0004g0182 a0001c0015t0018g0185	3	342	0.0088	-1134	c.92- others(15): Show c.92-6369_92-5236del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431418	TCAGCAGT others(1127): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18963.hp2 HG01175.hp2 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0065 a0002c0002t0005 a0001c0001t0065 a0002c0002t0005	a0001c0001t0065g0253 a0002c0002t0005g0276 a0001c0001t0065g0253 a0002c0002t0005g0276	2	253	0.0079	-1134	c.92- others(15): Show c.92-4340_92-3207del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRA_chr20_2868481_3043669	3032499	GGCTCACG others(1127): Show GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCA CAAAGTCAGGAGATCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCT CTACTAAAAATACAAAAATTAGCTGGGCGCGATGGTGCATGCCTGTGATC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCAGGGAGCTG AAGGTTGCAATGAGCCAAGATCGCGCCACTGCATTCCAGCCTGGTGGCAG AGTGAGACTCCATCTCAAAAAAAAAAAAAAAAGAGTTGGCTTTCTCCCTG CAAGTTCTCTGTTCGCTCTGTTCCTTCCAGGCTTGGCCCCACTGGGACTG CTTTAGTCAAGATCACCAGTGACTGTCCTCTTGCCAAATCCAAAGGTCAT TTCTCTTTTCTGATTTTTTTTTTTTTGTCCTTACAGCAGCATTTGAAAGA GTCAGTACCTCCCTCCTCTTCCTCAGAACACTTACTTCCGTAGCATCACC CCACTCACTAACCTGGCAGCTCCTTTGTTATTTCTTTGTGACCTCCTCCT CTAAAACATTGGAGTATACTAGACTCGGGCGCTAGCCCACTCTGTTTTCT TTTGACACACTAGCCCTTCAGGATCTCAGCCAGTCCTATGGCTTTAAGTA CAACCCATATGCCAGGGATCCTCAATCTGCGTCTCTAGGCCAGTCACCTG TCCCCCTTCCCAATGTGGGCTCCTGATTTCCTCCTTCCCCCGACACCAGT CCACCCCACTCTTAGCCATCTAAATAAATAGTACCACCTTCTGCCCAGTT GCTCATGTCTAAAATCCGGGAGTTACCTTCCTTCCTCCCCTCTCCTCACC CCTCACATCCAGTCTGCCACTGAGTCCTGATACAGGCAGAGCCTCCCCAC TTTTCTCCAGCGTAACTGCTGTCATCTGAACAAGCCCTCGTCTCTCACTG CTTGCCCGTGGGACTGTGGGCATGACTCATATGCGCAGCCTCGTCTGCAG TGGCCTGGCAACTGGTCCTCCTGCTCTCATCCTAACCCACTTTTAGTTTT TCAAATGGCAGCTGCTGGTCCTTTTGAAAATATAAATCATTGTCACTCCT TGTCTTACAAATCCTGTTTGAGGCCAGGTGCGGCA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03710.hp2 NA20752.hp2 HG02602.hp1 HG03710.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0199 a0001c0003t0001g0202 a0001c0006t0001g0216 a0001c0003t0001g0199 a0001c0003t0001g0202 a0001c0006t0001g0216	3	354	0.0085	-1134	c.192 others(19): Show c.1921-3051_1921-1918del	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
RASA3_chr13_113972783_114137623	114084347	CTCCTCGC others(1127): Show CTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGT CCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCT TCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACT CCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATC GACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAG TATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCT GGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGA GTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTG CTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGA AGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCG GGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	54	0.0185	-1134	c.56- others(17): Show c.56-11643_56-10510del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112787325	TGGAGACC others(1126): Show TGGAGACCTACTTAATTGACACCGGGTGTCCTGATGCGTAGACTCCTGTG GAGACCTACTTAATCCACACCAGTGTCCTAATGTGTAGACCCCTGTGGAG ACCTACTTAATTCACACCGGGTGTCCTGATGTGTAGACCCCTGTGGATAC CTACTTAATTCACACCGGGTGTCCTGATGCGTAGACTCCTGTGGATACCT ACTTAATTCACACCGGGTGTCCTGATGTGTAGACCCCTGTGGAGACCTAC TTAATTGACACCGGGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTT AATTCACACCAAGTGTCCTGATGTGTAGACCCCTGTGGATACCTACTTAA TTCACACCGGGTGTCCTGATGCGTAGACTCCTGTGGAGACCTACTTAATC CACACCGGGTGTCCTGATGTGTAGACCCCTGTGGAGACCTACTTAATTCA CACCGGTGTCCTGACGTGTAAACCCCTGTGGAGACCTACTTAATTCACAC CGGTGTCCTAATTCACACCGGTGTCCTGATGTATAGACCCTTGTGGAGAC CTACTTAATTCACACCAGTGTCCTCATGTGTAGACCCTTGCGGAGACCTA CTTAATTCACACTGGGTGTCCTGATGCGTAGACTCCTGTGGAGACCTACT TAATTCACACCGGATGTCCTGATGTGTAGACCCCTGTGGAGACCTACTTA ATTCACACCAAGTGTCCTGATGTGTAGACCCCTGTGGATACCTACTTAAT TCACACCGGGTGTCCTGATGTGTAGACCCCTGTGTAGACCTACTTAATCC ACACCGGGTGTCCTGATGTGTAGACCCCTGTGGAGACCTACTTAATTCAC ACCAAGTGTCCTGATGTGTAGACTCCTGTGGAGACCTACTTAATTCACAC TGGGTGTCCTGACGTGTAGACTCCTGTGGAGACCTACTTAATTCACACCG GGTATTCTGACATGTAGACCCCTGTGGAGACCTACTTAATTCACACTGGT GTCCTGACGTGTAGACCCCTGTGGAGACCTACTTAATTCACACCGGTGTC CTAATTCACACCGGTGTCCTGATGTATAGACCCTTGCGGAGACCTACTTA ATTCACACCGGTGTCCTCATGTGTAGACCCTTGC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp2 HG02895.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0157 a0001c0001t0023g0158 a0001c0001t0023g0157 a0001c0001t0023g0158	2	252	0.0079	-1133	c.162 others(17): Show c.162+2085_162+3217del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
CNTN6_chr3_1088024_1409217	1323889	AAATAAAT others(1126): Show AAATAAATGTGTTCTGTAGCCGCAATTATTGCATTAAGCATAAAATCAGA TATATCTGAAACCTTTGTAAGTTATGTGAAATTACATATGAGCATGCATT TATTTTCCCAGGTCAGACATATATTAGGACAATTTCTAAACAAATACTTA TGAATTATATAATTTTGTTAATAATACCCAGAAACATGATTCAATTTCAC CAATAGATCTAGTTCTTCTAAGTTTTGCCTTGATTTGTCCCTCAAGGCTG CAGGAAGCACATTCTGTAACTGGAAGTTGTCCTGATTCCTGCAAGAGGTA ATCCTAGGCTTAGTTCCCACCACCCAGAGACATCATGATTTCTTTTACTC GTTTGTAGTCTCATTGAAGGGTCTTCTGTCTTGGTGAAGGCAGGTTGTGC AGTAGAAAAACTCTAGAAGTCAGACAGACTTGCGTTTTATATTGTGCACA ATTTCGAATCCTCTCGGCCCTGCTTCTTACTTCAGCCACTGCTACGGTGG CCAGTTCAGCACTGTGCGTTGTAGATGTAACCTGAAGGAGTGTTGTCTCA GGTGCAAAACTACCAAGCACATCTTGTTTTCTGTTCTGGGTTTTCTTTGG CTCCTTCGTGAGCCTACTCAGCATTTAAGCATGCCCAGTTTGGATGTGCC AGTAGTTTACACCTGCACTACCCTTAGATGACCATGGATGGGAACTAAAT GATCCCCCTTCATTTCCCTGGGTAGACAGCTCTAAAGACTGCTTAGAAGT TGACATAAGATGGAGAACAATGGATCGTGTTGGTGGTCAACTCAATAACT CAGCCTTGCATTGACTTTTTTTTCCTTCCCGGTGACTACCTTTTTTTCCT GATGCTTTTCCCTTGGGCTAACATTCTCAAATGAACATGTGGAACTCAAG CCCTTTACTTAGGTTCTGCTTTTAGGGTTCAAATTTTGGCTTCCCTGTTT TCTACCATGTCATCTTGAACAGGTTACCTAACATCGCTGCGAGAATCCAC TGAAAGATTGTAGAGGGAATTAAGTGCAATTACAAATATAAAGCATCTGG CTTGCCACAGCCTGAGAGTCCAAGGGAAGCGTCATATACTTCTGTATATC CAAGGACAGAACTAAATAAAGGAGAGGGATTAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02055.hp1 others(18): Show HG01167.hp2 HG01169.hp2 HG02055.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG06807.hp2 NA18522.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0005 others(7): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0013 a0001c0019 a0001c0023 a0001c0025 a0003c0015	a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 others(8): Show a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0006t0001 a0001c0008t0001 a0001c0013t0001 a0001c0019t0001 a0001c0023t0001 a0001c0025t0001 a0003c0015t0001	a0001c0002t0001g0209 a0001c0003t0001g0219 a0001c0005t0001g0180 others(18): Show a0001c0002t0001g0209 a0001c0003t0001g0219 a0001c0005t0001g0180 a0001c0005t0001g0189 a0001c0005t0001g0193 a0001c0005t0001g0203 a0001c0005t0001g0208 a0001c0005t0004g0194 a0001c0006t0001g0036 a0001c0006t0001g0184 a0001c0006t0001g0200 a0001c0006t0001g0201 a0001c0006t0001g0210 a0001c0006t0001g0216 a0001c0008t0001g0118 a0001c0013t0001g0199 a0001c0019t0001g0202 a0001c0023t0001g0186 a0001c0025t0001g0192 a0003c0015t0001g0008 a0003c0015t0001g0009	21	230	0.0913	-1133	c.947 others(16): Show c.947-1925_947-793del	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	8/22			chr3	TogoVar
MYOF_chr10_93301429_93487334	93326694	GGCTCACT others(1126): Show GGCTCACTGCAACCCCTGCCTCCTGGGTTCAAGCGATTCTCGTGCCTCAG CCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACGCAGCTAATT TTTGTATTTTTAGTAGAGAGAGGGTTTCACTATGTTGGCCAGGCTGGTGT CGAACTCCTGGGCTCAGGCGATCTGCCCTCCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACTGTATCTGGCCACCACTGTGATATTCTAAA AACATAGGCCCCAGATTCTCTTGACACTTCTCCCATGAAGAGGTGGGGTC TGTGTCATTTCCCTTTGAATCTGGAGACGTAGTCAAACACTGGAGTATGG AGAAAAGATGCTGTGTGACTCCAAGGCTTAGACACAAAAGGCCACACAGC TCCTGCCTGGTTTTCTGGGGACCCTCACTCTGGGGGACACCATCCACATG TAAGGAGCCTGGGTCTGCAGTCTCCCCTGCTGGAAAGGCCTGTGTAGGTG CTCTGGTCATCAGCCCCAGCCGAGAGCCAACACAACTGCCAGCTGTGTGT GTGGACCACCTGACTGCTCCCCCGAGCAGGGCTTTCAGATGACTGCAGCC TCAGCCAACATCTGACTGCAACCACAGGAGATGAGCCACCCAGGCTCAAA CCTAACTTGTGGACTGCCAATAGCAAAGGGACCAGAACTCCAGATCCGGT AAGTGGGAGCATTCTGTATATACTCTTGTGGCACAAGCTCATGGCCAGCC TCGGCCAGAACTGTTCACCTGAGCCCGTCCTGAATTCCTGACCCCGCAAA ACTGTGAGGAAAACAAAATGGTTGTTTTCAGTTACTAAGTTTGGGGTGAT CTGTTATATATCAATAGTAACTGGAACAATCCCCATGACGGGGGAGTTGT TTGATTGTTTGGGGGTACCCTTAACCATTAGACCATGATGCTTCCCAATT TATTTCCAATCCTGTTTGCAAGTTCACGTTAGAAGCAGCATCAACATTTC TTAAACATCTAATCATCCCTGATACCAAGTCCTCTTTAAAATGGAAAGAC AAAACATAAGTTTTTTTGTTTGTTTGTTTTTTGAGACAGGATCTCACTCT GTCGCCCAGGCTGGGGTACAGAGGCACGATCTCA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01891.hp1 others(1): Show HG01081.hp1 HG01109.hp2 HG01891.hp1 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0017 a0001c0004 a0001c0005 a0001c0017	a0001c0004t0003 a0001c0005t0001 a0001c0017t0001 a0001c0004t0003 a0001c0005t0001 a0001c0017t0001	a0001c0004t0003g0233 a0001c0004t0003g0238 a0001c0005t0001g0079 others(1): Show a0001c0004t0003g0233 a0001c0004t0003g0238 a0001c0005t0001g0079 a0001c0017t0001g0025	4	238	0.0168	-1133	c.513 others(17): Show c.5131+936_5132-730del	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	45/53			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235660	TCCCCTCT others(1125): Show TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGG CCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCAC CATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTA TCTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCC ATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGT GTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCAC CAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCAT CCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTG AATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAG CAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCA TTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTC CCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCC CGGTGTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGA GTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCAC CAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGG GCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0028 a0002c0004t0028	a0002c0004t0028g0020 a0002c0004t0028g0020	1	104	0.0096	-1132	c.136 others(19): Show c.1362-2947_1362-1816del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235692	GCCTCCCG others(1125): Show GCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAG GTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGC CACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCCACT GCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGATTTG CCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAG CCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGA AGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAA ACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTC CCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGC TGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGC TGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTT TACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGA CCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGC CTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACC TCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTT CGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG03540.hp2 HG02630.hp2 HG02886.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0049 a0001c0003t0001 a0001c0007t0066 a0001c0001t0049 a0001c0003t0001 a0001c0007t0066	a0001c0001t0049g0040 a0001c0003t0001g0070 a0001c0007t0066g0105 a0001c0001t0049g0040 a0001c0003t0001g0070 a0001c0007t0066g0105	3	88	0.0341	-1132	c.136 others(19): Show c.1362-2979_1362-1848del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
CHID1_chr11_862859_915810	871014	GGAGTCTC others(1125): Show GGAGTCTCACTCTGTCGCCCAGGCTGGTGTACAGTCGTGCGATCTTGGTT CACTGCAACCTCTGCCTCCCAGATTCAGGTGATTCTTCTGCCTCAGCCTC CTGAGTAGCTGGGACTACAAGCACACATCACCATGCCCGACTAATTTTTG TTATTTTTTAGTAGAGATGCGGTTTCACCGTATTGGCCAAGCTGGTCTCG AACTCCTGACCTCGTGATCTGTCCGCCTTGGCCTCCCAAAGTGCTGGAAT TACAGGCGTGAGCCACCGCGCCTGGCCTCTGCACCCTTTCAAAGACTGAG TCTGCCTCAGTCTTGAACAATGACCACCCCATGCCCAGGACAGCAGCAGG CCCCTCCTGAGCACCAAGAGTCAGTGGTTTGAGAACCACCCCCTCCTTCA CACAGAGGACAGGCTCATTCCCAAGGTGCTGGGGACACGACTGCGGCTTC CAGGTCACGGGGCCCTGAGTGTGTGCACATCTCACACTGCACATTTGGGA CCAGGGCAGGTGGTTCCAGAAGCTTCTGGTCTCCACAGACAGGAGTCTGT GCAGGTGGAGGCAGCTGACAATGGAACATGACCAGTGCCTGCTGCGTGAG GACAGTGCCCCCCACGTGCCTGGGGCTGCAGCCTCAGGGAGGAGGCCTGG CGTGGGGCCTACAGCCCGGGTGCCATGTGGGAGGGGAGGACAGGCAGTAG GCAACTGCAGGGGCGCAGGGACCTGGGCCGTGTGGCATGGACATCCGCAG GATCCTAAGGGGTCACAGATGGACAGTGCAGGGTTTATCCAAGTGAGAAA TGGCCACAGGACCGCACCTCGAGCCACCTTTCTGCTCCTGCCCAGGAGTA GTGGGATGTTTGAGGCTCCCAAACGGGAAAGGCTGCTGTTGTCCTGAGCA GGGCAGAGTCCCCTTGACACTGGGAGCCTCTTCCAGACTAGGGCACATGT CACTTCAGAGCTGTGAATGGGAGCAGCTGCCACCCCCCCAGCAGTGCTCG ACAAAGTGCCAGACCCCATCGGGTAGCTCTGGCCTTTTGGGGCATGGAGG CTGCTCTGCAGACATCAGACCCCGGCAAACACATGGCAGGGAGGGTGGGA AACAGCATTCGGGCAGCCTCCCCAACCCAGACA	G G	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	384	0.0026	-1132	c.960 others(16): Show c.960-1647_960-516del	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar
PRKN_chr6_161342417_162732766	162084788	AAACTTCA others(1125): Show AAACTTCAGTTATAAGGCAATTATGATCCAAGCAAAGTTCAATTATAAAA TAGGTAATGATAATATAGAAGGCACAATTAGGACAAAATATTCCTGTCTC TGTACTGTCAGATAGCCTGGAATTACAATCAGTAACCTGAACTTCATTTA GTGTGAAGGCAGAGTCTCCAAAATCCAATTCAAACAAAAAAGGTTAAAGT GACATGTTATTCCATTATCACTCATTGCTATATTGATACAGACTAGTTGA TCAGTGTCCTACCACAAACACACACACAAAGAGAGAGACTCACTCCTCAT GCAGTGAGACAGTGGAAATAGGGAAACAGATGTCTTAAGAGGAAAAACCC AAATGGGACATACGAGATAGGCTTTTTAAAAAACCCTACATAGGCCTGCA CAAAGAAATGGATGTAATTCTAGACAAATCCCACCATGTTGTATAAATGG AGGTGAAAGATAAGGAATTACCCCTACCCCTAAAAACAACTGAGTTGAAA TTAAAAGTATGATTATATTATGGATTGTCTAACTTCACAAGTATTATCAA CTTACTAATTTATATTAATGAATAGCTTTCAATCTAGATATGATTTCAAA TAAGCAATACATATTTGACTATTCAGTTATTGAAATGATTTTCATGCATC TACTGTGTGTTAAACTTTGTATTAAATGTTAGAAATCAAACACGAGTGAG ATTCAGGACTATATTCTATTATTCTATAATTTAATGGAGGACATAAAGAG CAGATATTTGACAAAGAAATGCATAACATACTAAGGGAGTTCATTTAATG GCAAGACCAATTATAATTTTGTTTCCAACTTGGTATGAACTATGCTTACC AACTGTGAGAGAGGGGAGTTAAGATACTATTCATGTATTCTCAAATTAGT CAATTCCAAGAATTTGTTGAGTGTTACTCTTTTCAAATCAGGTGGGTGGT TGGCTCAATCAGCGCTGGCAGGTTACATTCCCATCTTACTGTTCTCACCA CCACCCACTGCAGTGAAAAACACTTTTATGACAGAAATTTACCTGTTTTA AAAGTACTTTTGTTCTCAGAACTGAGAGATTTTATTGTTAAATAAAAGTG ACAGGGGAAGCAACATAAAGTATCAAAGATGGT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp1 HG02647.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0001 a0001c0003t0002 a0001c0004t0001	a0001c0003t0002g0027 a0001c0004t0001g0006 a0001c0003t0002g0027 a0001c0004t0001g0006	2	32	0.0625	-1132	c.535 others(19): Show c.535-31746_535-30615del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	4/11			chr6	TogoVar
SNTG2_chr2_945849_1372613	1343387	CCCCCTGT others(1125): Show CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGG CCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTT GGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTC TGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTG GGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCAC TTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAG CTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAG AGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGT AGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGA CATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCC TGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAA TTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTG TTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCA CTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGG CACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGTGG CAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGG AAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTC TGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCA GGACATGCATAGGAAGAGTGGACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0094 a0002c0003t0001g0094	1	186	0.0054	-1132	c.148 others(21): Show c.1489-23838_1489-22707del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
PEX5L_chr3_179789958_180041937	179943176	ATTGCTCT others(1124): Show ATTGCTCTGGATTTCAAGCAAGCATCTTTATATTAGGTTAGCGCTATCAT CAGCATTTGCACTGTATGAACACTATGCCCTGTATGGCCAGCAGCCACCT TGGCAGTGGGGAAACAAATCATTCCATCTCTTAGCACAGAGATTCTTATT CCTTGTATAAGTGAGTGAATTGCTCATTTGTTGCACAATTAATCACATCT ACTTCCTCATTTCCTAAAATGAAATCATCTAATGAATTGGATGAATAAAG AGGAAAACTGGCTTTTAATTCATTTATCCAAAGTATTTAAATGTGTAATA ATTAGCCTGCAGTAAATTATTGTGAGGAGAACAGAAACTCATGTCCAATT AGTCGAATCCTTTCCTATAGAATTTAGGTATGGAAATTCAGTTTCTGCTC ACTGGAAGCTAACTTTCTGGGAAGCTGAATGTGGTCTGCATTCTGTGTGC AATGTTTTATTCCACCACGTGGAGAATCACAATAAGACAGCAGAGGCGGT GAGCACTAAGCACGTGACATCTGTGGCCCGCTGCTGTCATTATATATGAG AGAGAAAAACAAGGCTTGAATTCTTAGATGCTCAAGTCAGACAAAGGTCT CTTGAAGGACTCAGTAACAATTCTCAACACAATGCTTAATTCTACCAATT GTGCTCCATCTCCTTTTTCCTTTCCACATCAGCTATTCAAATTCCCTGGG TAAAGCAGAAGGAAGCAGGACCAGATAAGGCTTCCTGGTAAAACTGGGTA ACTCACACATTGAGGACAAGTGATGCCTACTCTCAATGGGGCTCTCTCAA CAAACTTGCCAGAAGAATATGCCCTCCCCCCCCCAAAAAACTGAAAAAGT TTATAAACTTATATTCCACTCAAATTACAATTAGAACAATTTATGAATTC AAAGGCTACTTTTTAATATAGAAACAGGTCATCATGATGTCCGGGTAGTT CATCAGGAGCCATTACAAATTTTAGGGAATGGAGGGAATATATCAGAAAT TTTAGAAATTTTGTGTCCACAAATCTCTGTTGGAAGAGCAACTATTAACT CAGATGATAGCAGACTGCTACTTTCAGAGATGCATAAAAGATGGGAGGTT TACACTCAATCCAGCCTTCTAAGAAGAGACTT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	218	0.0046	-1131	c.93+ others(17): Show c.93+27287_93+28417del	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	2/14			chr3	TogoVar
RSPH14_chr22_23054415_23146990	23136241	ATGTCATG others(1124): Show ATGTCATGCAAATTAACTCCTCAAGGTGACAAGATGCCAAGCCCAGGGCT GCTATCCTCATTCCCCCTTCCTGTCACTACTTCTGTGGGTAGAAGAGGCA GAAGAGTTTCAACCTGGGCAGTTCAGGGCAGCTACTTAGAGCTTGATGGG CTCTGAAAGCTATTGACATTGGTTATAAGATCACCACTGACCTCAAGGGA AATTTAGAAGTTGGCCACATTTCTGAGAACGCTGAAGGAGTGCACGGGCC AGGCCATTATCAGGTCCCTGGTCAGGGATGGTCACTTCACCATGTCTTCC TGCCTTGCTAATGTGGGCACAGCCAGGACCCCTGGCTTAGGCACTCTAGG TGCTGCTAAACAAATCCTTACTACCATTCATTATAAGTAGGTTGATGCAA AAGTAATTGCGGTTTTTACCACTACTTTTAATTGCAAAACTGCAATTACT TTTGCACTAACCTGATAATTGCTCAGGCTTCAGGGACCTGTCCTCTCAGC ATCTGTCCCCCCTAACTGGGGATTACTACCTAATGTCCACATCAGGTCCA GAAAAGTAGGGAGGAAAAACCAGCAAGAAAGGTGACTTGACTCCTGTGTG CCCCTAACCTTTTAAAGCACCTTGCCTGGGTCATCTAAGATCTGCAGAGT GAGGCTGGGATTAGGATTGTTGCCCAGATCACAGAGCAGGAAAGAGTGGG CCCCCCAAAAGGCTGGGGCTTGTGTCCCTACTTCACTGGTCTGTCTGCAG TGCCAGCCTGCCCTTCTTGGTACAAAGCATGTGAATTAGGGTGCTAGCCA TGGCACCACCTCCACACACACATGCACGGTTCACACAGGGCCGGGGCTGC ACACAGGATCAGCCACCAAGGCAGCGAGAGCTTGGGGACTAGCAGGGCTG AGTGACTTTGGGTTTTATGAGATGCCCTGCAGCCTCTGCCTCTCTGGGTT CAAGCAATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATG TGTCATCATGCTCAGCTAATTTTTGTATTTTTAGTAGAGACTGGTTTCAC CATGTTGGCCTGTGTGCCTCCTCACCAGAGGCAAGCAAGAGGGCAGGGAA CAGGCTGCCAGGAAGCTCTCTTGTCCGTGGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00558.hp1 others(89): Show HG00099.hp1 HG00280.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG01081.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02293.hp1 HG02630.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp2 HG04199.hp2 NA18522.hp2 NA18747.hp2 NA18942.hp1 NA18944.hp1 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0011 a0005c0005 others(1): Show a0001c0001 a0001c0011 a0005c0005 a0008c0007	a0001c0001t0001 a0001c0011t0001 a0005c0005t0001 others(1): Show a0001c0001t0001 a0001c0011t0001 a0005c0005t0001 a0008c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0011t0001g0204 a0005c0005t0001g0240 a0005c0005t0001g0290 a0008c0007t0001g0200	92	312	0.2949	-1131	c.302 others(17): Show c.302+1468_303-2098del	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	3/6			chr22	TogoVar

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