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
PHLDB3_chr19_43470103_43509746	43477219	CAAGAAAA others(597): Show CAAGAAAATTAACAGTGACAGGCCAGGTGCGGTGGCTCACGCCTGTAATC CGAGCACTTTGGGGGGCCAAGGTGGGCAGATCATGAGGTCAGGAGTTCGA GACCAGCCTGGCCAACACAGTGACACCCCATCTCAACTAAAAATACAAAA GTTAGCCAGCTGTGGTGGCACGCCTGTAATCCCAACTACTTGGGAGGCTG AGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAG ATGGCGCCACCGCACTCCAGCCTGGGCAACAGAGCCAGACTCCATCTAAA AAAAAAAAAAGAGCCACGTGTGGTGCGGTGGTTCACGCCTGTAATCCCAG AACTTTGAGAGGCTGAGGTGGGCAGATCATGAGGTCAGGAGTTTGAGACC AACCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCCGGGCACGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAG AATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCA CTGTACTCAGGCCTGGGCGACAGAATGAGACTCTGTCTTAAAAAAAAAAA AAAAG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02886.hp1 others(4): Show HG02257.hp2 HG02809.hp1 HG02886.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0029 others(4): Show a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0061 a0001c0001t0002g0065	7	394	0.0178	-604	c.178 others(17): Show c.1788+224_1788+827del	PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding	15/15			chr19	TogoVar
RPRML_chr17_46973156_46984253	46976179	GCCTCCCA others(597): Show GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCGATA AAAGTTTTTAAAAAAGAAATTTGGCTGGGCGCAGTGGCTGACACATGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGT TCGACACCAGCCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATAA TAAATAAATAAATAAATAATTAGCCAGGCATGGTGGCGCGCGCCCATAAT CCCAGCTATTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGC AGGGGTTTCAGCGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGAGTGAGATTCCATCTCAAACAAACAAACAAAAAACCAAAAAAACAAAT TTAACTCTTGACTCGTTCTCTTCTCGCCCCAGTCACATTTAGTAGCAGAC CTATTTTATTAGAGGAGAGTTCTCGCAGTGTTCGCCCTAACTTGGCCCGG TGGAAAAGCGTGTAAGCCTGTGTTCTTTCTGAAACCATTTTCTGGTCATT TGGGATTTTACGCAAATGCCTGTAGCTGTCTGAGCTGCATTCCCCAAACC ACTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03486.hp1 HG02965.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	2	450	0.0044	-604	c.18 others(11): Show c.1862_*2465del	RPRML	ENSG00000179673.5	transcript	ENST00000322329.5	protein_coding		1976		chr17	TogoVar
SKI_chr1_2223319_2315213	2281016	CGGCGGCG others(597): Show CGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGC GATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTC AGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCC CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG AGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC GCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAG AGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG GCGGT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0076 a0001c0001t0006g0076	1	174	0.0057	-604	c.970 others(19): Show c.970-21956_970-21353del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281178	GGACAGGC others(597): Show GGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG AGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGGAC AGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCGGT GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA GAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAG GACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCC GAGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0311 a0001c0001t0006g0311	1	97	0.0103	-604	c.970 others(19): Show c.970-21775_970-21172del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	246024408	GAGATACA others(597): Show GAGATACAGGAAGTGGACAGCATCTAGGAAGAGAGATACAGCAAGTGGAC AGCATCTAGGAAGGGAGATACAGCAAGTGGACAGCATCTAGGAAGACAGA TACAGCAAGTGGACAGCATCTAGGAAGGGAGATCCAGGAAGTGGACAGCA TCTAGGAAGGAGATACAGGAAGTGGGCAGCATCTAGGAAGAGAGATACAG CAAGTGGACAGCATCTAGGAAGGGAGATACAGCAAGTGGACAGCATCTAG GAAGGCAGATACAGCAAGTGGACAGCATCTAGGAAGGGAGATACAGCAAG TGGACAGCATCTAGGAAGGGAGATACAGGAAGTGGACAGCATCTAGGAAG GAGATACAGGAAGTGGACAGCATCTAGGAAGACAGATACAGCAAGTGGAC AGCATCTAGGAAGGGAGATACAGCAAGTGGACAGCATCTAGGAAGGGAGA TACAGCAAGTGGACAGCATCTAGGAAGGGAGATACAGGAAGTGGACAGCA TCTAGGAAGGAGATACAGGAAGTGGACAGCATCTAGGAAGAGAGATACAG CAAGTGGACAGCATCTAGGAAGGGAGATACAGCAAGTGGACAGCATCTAG GAAGA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18971.hp2 NA18962.hp2 NA18971.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0101 a0002c0003t0002g0102 a0002c0003t0001g0101 a0002c0003t0002g0102	2	150	0.0133	-604	c.532 others(19): Show c.532-95075_532-94472del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
ZFYVE28_chr4_2264597_2423645	2396171	ACAAGGTG others(597): Show ACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGC CACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGC CACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGA CACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGG CCATAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGG ACACAAGGCGGGGTGTCTGAGCTGATGGGACGGGCCATCCTGCAGAGGGG ACACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GCCATAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GACACAAGGCGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGACC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03490.hp2 HG03491.hp2 others(2): Show HG02965.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0010 a0001c0002 a0003c0010	a0001c0002t0001 a0001c0002t0003 a0003c0010t0002 a0001c0002t0001 a0001c0002t0003 a0003c0010t0002	a0001c0002t0001g0135 a0001c0002t0001g0220 a0001c0002t0003g0117 others(2): Show a0001c0002t0001g0135 a0001c0002t0001g0220 a0001c0002t0003g0117 a0001c0002t0003g0118 a0003c0010t0002g0079	5	281	0.0178	-604	c.39+ others(17): Show c.39+21510_39+22113del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
ACTN4_chr19_38642649_38736589	38735986	GGTTCTGG others(596): Show GGTTCTGGGGGCGGGGCAGGTCAGGTCTCGGGGGTCTCGGGGGTCTCGGG GGTCTCGGGGGTCTCGGGGGTCTCGGGGCCTGTCTAGGCAGGGATGGGGT CGGATTTGGGTGCCCGGGGCTCACACGGCCGTGTGGCGGCGCTCGGAGAA GACACGCAGAGTGAAGTCAGCCTCGTCGCCGGCGTGGGCGGTGCTCGGCA CCACCAGGTAGTGGCCTGGACGCAGGCAGCAGCGGCGGGTCACGTCGCGG CGGGCGCTGAGGGGCGAGCGGTCGGCGCGCAGCAGCCGGGGCAGGAGCGC ATGGCTGCGCGGGGAATCCCAGAGGCCCAGCAGCTGGGGACGGGGCGGCA TGACCACGGACCAGGCTCACCCCCGGCCCTTCATCCCCGCACCCTCCAGC GCGCCCCGTCCACCCTGCCTAACCCCTGTCCACGCCTCCCCTGCCCCCGG ACCCGGCTCTGCCCCCCCACCCCCAGGGCAGTTTGACCAAGCCCCAGGGC AGGTTGACCAAGCCCCAGGGCAGGTTGACCAAGCCCCAGGGCCGGTTGAC CCCATCCCAGACTCACCTCCTCTGGAATCTGAAAGAAGCAAGAGCAAGGG GCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	308	0.0032	-603	c.65 others(11): Show c.6555_*7157del	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4398		chr19	TogoVar
BAX_chr19_48949875_48966798	48956919	GCCTTGGC others(596): Show GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCAACAA GCCAGGAAAGACTTCTAAGGGCAGGTGACATCAAAGAGCAGGTGACATTA AAGCCAAAGCTAGAATGATAAGAAGCATGCAGTGATCTATAGTGATCGGG GGGAAGAGGCATCTGGTAGAGGGAACAGCAAGTGCAAAGGCCCTGAGGTA GGACCAAGCCTCATCTTTTGACAGTAGGGAGGAGGCCAGTGCTGTTGGAA CAGAGTGAACTGGGGAGAGGGTGGGAAAGGAAGGCACAGTTGGGCAGGGG CAGATTGTGTGGAGTTTTTCGGGCTGCTGGAAAGACTTTTTCTTTTCTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTTGCCCA GGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCCG GGTTCAAGTGACTCTCATGCTTTAGCCTCCCAAGTAGCTAGAATTACAGG CACACACCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGACGGAGT TTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCG CCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00609.hp1 others(21): Show HG00280.hp2 HG00544.hp1 HG00609.hp1 HG02056.hp1 HG02145.hp1 HG02165.hp2 HG02523.hp2 HG02738.hp1 HG03239.hp2 HG03491.hp2 HG03688.hp2 NA18747.hp2 NA18906.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18992.hp1 NA18993.hp1 NA19065.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0029 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0002t0001g0006 a0001c0002t0001g0012	24	416	0.0577	-603	c.369 others(16): Show c.369+619_369+1221del	BAX	ENSG00000087088.21	transcript	ENST00000345358.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
KANSL3_chr2_96588172_96643312	96632902	CTTGCAGT others(596): Show CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGACTGGGAGACAGAG CGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAATTACTGGGCACAAG GGCTCACAAGGGCTCAGGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGT GGGCAGAACACTTGAGCCCACAAGTTCAACAGTGTGGGCAACATGGTGAA ACCCCGTCTCTACTGAAAATACAGAAATTAGCTTGTGGTCCCAGCTACAT GGGAGGCTGAGGTGGGAGATCAACTGAGCCTGGGAGGCGGACGTTGCAGT GAGCCAAAATTGCACCACTGTACTTCAGTCTGGGTGACAGAGACCTCGGC CCAAAAAAAAAAAATTTAAATAGAATTAAATATTCAGGCTGGGCGTAGTG GCTCGCGCCTGTAAACCCAACATTTTGGGAGGCCAAGGCGGGTGGATCAC CTTAGGTCACGAGTTCGAGACCAGCTTGGCCAACATGGTAAAACCCCATC TCTACTTAAAAAAAACAAAAATTAGGGTGTGGTGGCACGTGCCTGTAGTC CCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGACG GAGG	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	338	0.0030	-603	c.216 others(17): Show c.216-2023_216-1421del	KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	2/20			chr2	TogoVar
MYT1_chr20_64159452_64247253	64175095	GTAGTTGT others(596): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCT GTAGTTGTGTCCATTCCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCT GTAGTTGTGTCCATTCCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCT TTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCT TTCC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0005 a0001c0001t0024g0005	1	219	0.0046	-603	c.-99 others(19): Show c.-99+10404_-99+11006del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
OTUD7A_chr15_31470398_31875673	31510905	TATATGTA others(596): Show TATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATA TGTATATCTATATGTAACATATGTATATCTATATGTAACATATGTATATC TATATGTAACATACATGTATATCTATATGTAACATACATGTATATCTATA TGTAACATACATATATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACACACATATGTATATC TATATGTAACACACATACATATGTATATCTATATGTAACACACATACATA TGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACACA CATATATATGTATATCTATATGTAACACACATATATATGTATATCTATAT GTAACACACATATATATGTATATCTATATGTAACACATATATATGTATAT CTATATGTAACACACACATATATGTATATCTATATGTAACACACACATAT ATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAACAC ACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0124 a0001c0001t0006g0124	1	243	0.0041	-603	c.894 others(17): Show c.894-7690_894-7088del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
RPH3AL_chr17_207389_357807	253664	GTCCCTAG others(596): Show GTCCCTAGGAACGTTACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTC CATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTC CTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTT CCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGC ACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTT CCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATAT GACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGT TCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01978.hp2 others(3): Show HG00280.hp1 HG00280.hp2 HG01978.hp2 HG02074.hp1 NA18522.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0003t0002	a0001c0001t0001g0065 a0001c0001t0001g0115 a0001c0001t0003g0052 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0115 a0001c0001t0003g0052 a0001c0001t0004g0039 a0001c0001t0011g0007 a0001c0003t0002g0059	6	121	0.0496	-603	c.439 others(17): Show c.439-6982_439-6380del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	253910	CGCACGGC others(596): Show CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCC TGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTC CTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCGTCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGG AGCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	120	0.0083	-603	c.439 others(17): Show c.439-7228_439-6626del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	253954	TACGTACT others(596): Show TACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCC TAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGT CTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGA GGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACC CTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCC CTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCG TCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATG AGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTAC CCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATC CCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGC GTCTGTCCTTTTCCGTCCCTAGGAATATGACTACCCTACGTACTTCCTAT GAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTA CCCA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	129	0.0078	-603	c.439 others(17): Show c.439-7272_439-6670del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254892	TACGTACT others(596): Show TACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCC TAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGT CTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGA GGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACC CTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCC CTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCG TCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATG AGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTAC CCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATC CCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGC GTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTAT GAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTA CCCA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0060 a0001c0002t0006g0060	1	131	0.0076	-603	c.439 others(17): Show c.439-8210_439-7608del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255071	GTCCCTAG others(596): Show GTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAT GGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGA CTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTC CATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA TGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTG ACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTT CCATCCCTAGGAATGTGACTACCCAACGTACTTCCTATGAGGGGAGCCGC ACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTT CCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGT GACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTT TCCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	78	0.0128	-603	c.439 others(17): Show c.439-8389_439-7787del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257293	CGTGACTA others(596): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGT CCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGG AGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAG GAAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0059 a0001c0003t0002g0059	1	87	0.0115	-603	c.439 others(19): Show c.439-10611_439-10009del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257360	CGTGACTA others(596): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTTTTCCGTCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGT CCTGTTCTGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGG AGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTAC GTACTTCCTATGAGGGGAGTCGCACGGCGTCTATCCTTTTCCATCCCTAG GAAT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	89	0.0112	-603	c.439 others(19): Show c.439-10678_439-10076del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SNPH_chr20_1261294_1314327	1301629	ATCTAATT others(596): Show ATCTAATTTCATAAATATTTCTATCACCTCAAAATAAACCCCATTCCCAT TAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAA ATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAAT ATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAA TTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCA TTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAA AATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAA TATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCA ATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCC ATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCA AAATAAACCCCATTCCCATTAGCAATCACCGCCAGTTTCTAATTTCATCA ATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCC AGTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0177 a0001c0002t0005g0177	1	290	0.0034	-603	c.440 others(16): Show c.440+930_440+1532del	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
ADARB2_chr10_1172313_1742525	1239652	CCCTCCCG others(595): Show CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGCTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTGCCT CCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0066 a0001c0007t0066	a0001c0007t0066g0105 a0001c0007t0066g0105	1	73	0.0137	-602	c.136 others(19): Show c.1361+1877_1361+2478del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
C22orf15_chr22_23757990_23770863	23761799	AGAGGCGG others(595): Show AGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTGCAGCATG GCTGACAGAGCGAGACTCATTCTCAAAAAAAAATAAATAGGTCAGGCTTG GTGGCTCAGCACTTTGGGAGGCCAAGATGGGCGGATCATTTGAGGTCAGG AGTTCGAGACCAATCTGACCAATATGGTGAAACTCCATCTCTATTAAAAA TACAAAAAAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGA CCGTCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAAAA AATTAGCTGGGCGTGGTGGCGAGCGACTGTAGTCCCAGCTACTCAGGAGG CTGAGGCAGGAGAAAGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGGTCACACCACTGCACTCCAGCCTGGGCGAGGGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAACTAGCCAGGTGTAGTGGTGCACA CCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACT CGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG06807.hp1 HG02630.hp2 HG06807.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0001 a0002c0004t0005g0001	2	430	0.0047	-602	c.-15 others(10): Show c.-1507_-906del	C22orf15	ENSG00000169314.15	transcript	ENST00000402217.8	protein_coding		1190		chr22	TogoVar
CHCHD10_chr22_23760834_23772972	23761799	AGAGGCGG others(595): Show AGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTGCAGCATG GCTGACAGAGCGAGACTCATTCTCAAAAAAAAATAAATAGGTCAGGCTTG GTGGCTCAGCACTTTGGGAGGCCAAGATGGGCGGATCATTTGAGGTCAGG AGTTCGAGACCAATCTGACCAATATGGTGAAACTCCATCTCTATTAAAAA TACAAAAAAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGA CCGTCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAAAA AATTAGCTGGGCGTGGTGGCGAGCGACTGTAGTCCCAGCTACTCAGGAGG CTGAGGCAGGAGAAAGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGGTCACACCACTGCACTCCAGCCTGGGCGAGGGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAACTAGCCAGGTGTAGTGGTGCACA CCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACT CGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG06807.hp2 HG02630.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	430	0.0047	-602	c.36 others(11): Show c.3606_*4207del	CHCHD10	ENSG00000250479.9	transcript	ENST00000484558.3	protein_coding		4034		chr22	TogoVar
ERICH1_chr8_659200_736224	675157	GTGAGGAC others(595): Show GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGAC AGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCG AGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCC TCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCG GCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAG AGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAG GACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCG TGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG04199.hp1 NA18747.hp2 HG01074.hp1 HG04199.hp1 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0104 a0001c0002t0001g0112 a0001c0002t0002g0269 a0001c0002t0001g0104 a0001c0002t0001g0112 a0001c0002t0002g0269	3	374	0.0080	-602	c.305 others(17): Show c.305-1712_305-1111del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675653	CGAGGACA others(595): Show CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCG GCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACG CGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAG AGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAG GACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCG TGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAG AGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGA GGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCT CGT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	367	0.0027	-602	c.305 others(17): Show c.305-2208_305-1607del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC2_chr6_480154_698139	601450	CCACACAC others(595): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp2 HG02615.hp2 HG03130.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0152 a0002c0005t0002g0153 a0002c0005t0002g0152 a0002c0005t0002g0153	2	120	0.0167	-602	c.743 others(17): Show c.743-2827_743-2226del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
LMF1_chr16_848634_975984	904272	TGTCTCTG others(595): Show TGTCTCTGATGTGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCTGT CTCTGCTGCGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCT GCTGCGTGGGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGC GTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCCGTCTCTGCTGCGTG GTGGTGACCTCTGCACCGCCCACAGGACGCCTGTCTCTGCTGCGTGGTGG TGACCTCTGCATCGCCCACAGGACGCCTATCTCTGCTGTGTGGTGGTGAC CTTTGCACTGCCCGTGGGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTC TGCACTGCCTGTGGGGACGCCCGTCTCTGCTGTGTGGTGGTGACCTCTGC ATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGGGTGACCTCTGCATCGC CCACAGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACCGCCCAC AGGACGCCTGTCTCTGCTGTGTGGTGGTGACCTCTGCACTGCCCGTGGGG ACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCTGTGGGGACG GCC	T T	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19088.hp2 NA18990.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0196 a0001c0003t0001g0157 a0001c0001t0001g0196 a0001c0003t0001g0157	2	292	0.0068	-602	c.663 others(17): Show c.663+6057_663+6658del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LPP_chr3_188149157_188895671	188784426	CCATCATA others(595): Show CCATCATATATATATATTCCATCATATATATATATTCCATCATATATATA TATTCCATCATATATATATTCCATCATATATATATATTCCATCATATATA TATATTCCATCATATATATATATTCCATCATATATATATTCCATCATATA TATATTCCATCATATATATATATTCCATCATATATATATATTCCATCATA TATATATATTCCATCATATATATATATTCCATCATATATATATTCCATCA TATATATATATTCCATCATATATATATATTCCATCATATATATATATTTC CATCATATATATATTCCATCATATATATATTCCATCATATATATATATTC CATCATATATATATATTCCATCATATATATATATTCCATCATATATATAT ATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATAT ATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCAT ATATATATATTCCATCATATATATATATTCCATCATATATATATATTCCA TCATATATATATATTCCATCATATATATATATTCCATCATATATATATTC CAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0018 a0001c0002t0053g0018	1	74	0.0135	-602	c.141 others(21): Show c.1410+24159_1410+24760del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMOC2_chr6_168436184_168672992	168614984	CACCTACA others(595): Show CACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGGCC TCTTCACATCTACAGCCAGCACAGGGCCTCTTCATACTTACAGCCGGCAC AGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTTACATCTACA GCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCA CACCTACAGCCAGCACAGGGCCTCTTTATACCTACAGCCAGCACGGGGCC TCTTCACACCTACAGCCAGCACGGGGCCTTTTCACACCTACAGCCAGCAT GGGGCCTCTTCACACCTACAGCCAGCACGGGGCCTCTTCACACCTACAGC CAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACA CCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCC TCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCAC ACGGCCTCTTCACACCTACAGCCAGCACAGGGTCTCTTCATCTTCATACT TACAGCCGGCACAGGGCCTCTTTACATCTACAGCCAGCACAGGGCCTCTT CAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG01496.hp1 others(2): Show HG00738.hp1 HG01261.hp2 HG01496.hp1 HG01952.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0096 a0001c0002t0002g0023 a0001c0002t0002g0024 others(2): Show a0001c0001t0001g0096 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0027	5	166	0.0301	-602	c.907 others(17): Show c.907+6765_907+7366del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TEX29_chr13_111315642_111349248	111340605	AATCATAA others(595): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCATCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATAATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAAAATCATAACCCCTGTTTAGTGAGCACC TGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATG AAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	355	0.0028	-602	c.239 others(16): Show c.239+802_239+1403del	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111341089	CTGTTTAG others(595): Show CTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTA GTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGC TTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACAT CATAACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAA TCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAAC CCG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0256 a0003c0007t0003g0256	1	329	0.0030	-602	c.239 others(16): Show c.239+1232_240-991del	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
MELTF_chr3_196996740_197034817	197032814	TGGGACAT others(594): Show TGGGACATGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACACTCTT GCTGATGGGTTGGGTGTGAGCACCTGAAGTAGTGTGATGTCAGAAGATTT TACACTCTTGCTGACTGGTTGGGGTGTGAGCACCTGCAGTAGTGTGATGT CAGAGGATGTTACCTCTCTTGCTGACTGGTTGGGGTGTGAGCACCTGCAG TCGTGTGATGTCAGAAGATTTTACACTCTTGCTGACTGGTTGGGGTGTGA GCACCTGCAGTAGTGTGATGTCAGAGGATGTTACACTCTTGCTGACTGGT TACTGTGTGAGCACCTGCTGTAGTGTGATGTCAGAGGATGTTACACTCTT GCTGACGGGTTGGGGTGTCAGCATCTGCAGTAGTGTGATGTCAGAGGATG TTACCCTCTTGCTGACTTGTTGGGGTGTGAGCACCTGCAGTAGTGTGATG TCAGAGGATGTTACACTCTTGCTGATGGGTTGGGGTGTGAGCATCTGCAG TAGTGTGATGTCACAGGATGTTACGCTCTTGCTGACTGGTTGGGACGTTA GCACCTGCAGTAGTGTGATGTCACAGGATGTTACACTCTTGCTGACTGGT TG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02647.hp2 HG02886.hp1 others(3): Show HG00280.hp1 HG02647.hp2 HG02886.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0013 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0013 a0001c0003t0013	a0001c0001t0001g0235 a0001c0001t0003g0093 a0001c0002t0013g0089 others(2): Show a0001c0001t0001g0235 a0001c0001t0003g0093 a0001c0002t0013g0089 a0001c0003t0013g0029 a0001c0003t0013g0030	6	241	0.0249	-601	c.-37 others(11): Show c.-3713_-3113del	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		2998		chr3	TogoVar
PLEKHN1_chr1_961482_980865	976737	ACTCCCCC others(594): Show ACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCC GGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTC CCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCC CGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAA CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCG GGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCC CCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAA CCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGACC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0004 a0005c0014t0004	a0005c0014t0004g0073 a0005c0014t0004g0073	1	403	0.0025	-601	c.21 others(11): Show c.2163_*2763del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		873		chr1	TogoVar
PNPLA7_chr9_137454952_137555402	137517956	ACTCCACT others(594): Show ACTCCACTCTGCTCACTCCATCCCCCACTCACTCACTCCACTCTGCTCAC TCCATCCCCCACTCACTCACTCGACTCTGTCCACTCCATCCCCCACTCAC TCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCA CTCCATCCCTCACTCACTCACTCCACTCTGTCCACTCCATCCCCCACTCA CGCACTCACTCCACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTC TGCTCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCT CATTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTGACTCCAC TCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCC CCCACTCACTCATTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCC ACTCTGCTCACTCCATCCCCCACTCACTGACTCCACTCCATCCCCCACTC ACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCCACTCTGTCCAC TCCATCCCCCGTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACT CG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp2 HG02559.hp1 HG03579.hp2	a0011 a0029 a0011 a0029	a0011c0012 a0029c0056 a0011c0012 a0029c0056	a0011c0012t0001 a0029c0056t0001 a0011c0012t0001 a0029c0056t0001	a0011c0012t0001g0164 a0029c0056t0001g0167 a0011c0012t0001g0164 a0029c0056t0001g0167	2	186	0.0108	-601	c.108 others(19): Show c.1084+1360_1084+1960del	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PRPSAP2_chr17_18853131_18936287	18881491	GCCTCCCA others(594): Show GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGCCTTA TTTTTTATTTTTTTGAGGCAAGATCTCACTCTGTCACCCAGACTGGAATG CAGTGGCTCAATCTCAGCTCACTTGCAGCCTTGACCTTCTGCACTGAAGC GATTCTCCCACCTTAGCCTCCTGAGTATCTGGGACTACAGATGTGCGCCA CCATGCCTGGCTAATTTTTGTTTTGTAGAGGCGGGGTTTTGCCATGTTCC CCAGGCTGATCTCAAACTCCTGAGCTCAAGCAGTTTGTCAGCCTTGGCCT TCAAAGTGCTAGGATTACAGGCGTGAGCCACTGTGCCCGGCCATGAGAGC AATTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGG AGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCGGATTCA AGCTATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACG CCACCACGCCCAGCTAATTTTTGTATTTTTAGTAAAGATGGGGTTTCATC ATATTGGTCAGGCTGGCGTTGAACTCCTGACCTTGTGATCCACCCACCTC GC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp2 NA18939.hp2 others(3): Show HG02027.hp1 HG02083.hp2 NA18939.hp2 NA18947.hp2 NA19003.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0334 a0001c0001t0001g0335 others(3): Show a0001c0001t0001g0326 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0345 a0001c0001t0001g0349	6	390	0.0154	-601	c.413 others(16): Show c.413-1041_413-441del	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SFI1_chr22_31491536_31623588	31591885	TGGCTGGC others(594): Show TGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCTCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGAGGGCTGAC CCCCCCACCTCCCTCCCAGACAGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGTTGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGG GGTGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCACCTCCCTCCCGGATGGG GC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp1 HG02145.hp2 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0314 a0002c0002t0001g0315	2	320	0.0063	-601	c.154 others(19): Show c.1544+2321_1544+2921del	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SIGIRR_chr11_400716_419999	401831	GGCTCCAC others(594): Show GGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGAC CCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCC GGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCCCGGC CCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCC GCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGG CCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACC CCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCAG ACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACC CCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCAC TGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCC CCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCC GGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCA CC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	235	0.0043	-601	c.34 others(11): Show c.3464_*4064del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3884		chr11	TogoVar
TCP11_chr6_35113075_35146339	35136429	GACAAATA others(594): Show GACAAATAGCTAGTTTATAAAAAAAAGCAGGAAGTGAAACAGATGAAAAA CTTTTCTCTTAAAAAGTAAAATCGTATTTATAGCAGCAAAGAAACAATAA TTTGAAATTTGCAAAAATAAACATTCATCTAAGTATTAAGGTTCCACGTT CCTTTTCCTGTCTCTGATGCTATACATGATGAAAGCTAAACTCTCCCTAC AGATAATACTCAGATGTTACTGAATAGTGCCAAAGTCATTTGGTCTTCTA AAGCGGTAGTTCTCAGATTTTAGGAATTCACAGACTAATAAAATTTCTGA AAATATTTTAAGCAACTGAAAACAACTTGCCAACTTTTTGTTTTGCCTAG TATGGACAGTGAAACAAGCAAATAAAAATCATCTACCACCACCAAAATCA TCATTTCATCAAAGAAAAGATAGCTTAACCTCTGAAAAAAACCAGAAAGG AAATATTGTCAAAATAAACAGCAGTCCCTTAAATGGAATTAACTTTAGGA AAACTCATTACAATATCTTTATGATTTCATTTCACTAAATAGTGCTAAGA ATTTTGTCACAGACCAGCATGGGTATTTGGCAACCACTGTTCTAAGTTTT TA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(394): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0008 a0002c0002 others(9): Show a0001c0001 a0001c0008 a0002c0002 a0002c0012 a0003c0003 a0004c0004 a0004c0009 a0005c0006 a0006c0005 a0007c0011 a0008c0007 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0008t0001 a0002c0002t0003 a0002c0012t0003 a0003c0003t0001 a0004c0004t0001 a0004c0009t0001 a0005c0006t0003 a0006c0005t0001 a0007c0011t0002 a0008c0007t0001 a0009c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(181): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0004g0005 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0005g0012 a0001c0001t0005g0094 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0006g0047 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0008g0077 a0001c0001t0009g0165 a0001c0008t0001g0122 a0002c0002t0003g0004 a0002c0002t0003g0007 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0012t0003g0057 a0003c0003t0001g0017 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0004c0004t0001g0121 a0004c0004t0001g0124 a0004c0009t0001g0123 a0005c0006t0003g0058 a0005c0006t0003g0076 a0006c0005t0001g0035 a0007c0011t0002g0086 a0008c0007t0001g0113 a0009c0010t0001g0126	397	410	0.9683	-601	c.125 others(15): Show c.125-812_125-212del	TCP11	ENSG00000124678.20	transcript	ENST00000311875.11	protein_coding	2/9			chr6	TogoVar
TCP11_chr6_35113075_35146339	35136554	CATCTAAG others(594): Show CATCTAAGTATTAAGGTTCCACGTTCCTTTTCCTGTCTCTGATGCTATAC ATGATGAAAGCTAAACTCTCCCTACAGATAATACTCAGATGTTACTGAAT AGTGCCAAAGTCATTTGGTCTTCTAAAGCGGTAGTTCTCAGATTTTAGGA ATTCACAGACTAATAAAATTTCTGAAAATATTTTAAGCAACTGAAAACAA CTTGCCAACTTTTTGTTTTGCCTAGTATGGACAGTGAAACAAGCAAATAA AAATCATCTACCACCACCAAAATCATCATTTCATCAAAGAAAAGATAGCT TAACCTCTGAAAAAAACCAGAAAGGAAATATTGTCAAAATAAACAGCAGT CCCTTAAATGGAATTAACTTTAGGAAAACTCATTACAATATCTTTATGAT TTCATTTCACTAAATAGTGCTAAGAATTTTGTCACAGACCAGCATGGGTA TTTGGCAACCACTGTTCTAAGTTTTTAACAAATAGCTAGTTTATAAAAAA AAGCAGGAAGTGAAACAGATGAAAAACTTTTCTCTTAAAAAGTAAAATCG TATTTATAGCAGCAAAGAAACAATAATTTGAAATTTGCAAAAATAAACAT TT	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02451.hp1 HG02647.hp2 others(5): Show HG02080.hp1 HG02451.hp1 HG02647.hp2 HG02717.hp1 HG03195.hp2 HG03209.hp2 NA19066.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0158 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0158 a0001c0001t0001g0159	8	410	0.0195	-601	c.125 others(15): Show c.125-936_125-336del	TCP11	ENSG00000124678.20	transcript	ENST00000311875.11	protein_coding	2/9			chr6	TogoVar
ADARB2_chr10_1172313_1742525	1237016	GCCTCCCG others(593): Show GCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCT CCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCC GGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCGGT GTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCATCT C	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0077 a0001c0001t0050g0077	1	81	0.0123	-600	c.136 others(19): Show c.1362-3771_1362-3172del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
BOP1_chr8_144257045_144296438	144280909	CTTTCATA others(593): Show CTTTCATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACCAGGTCTTTGG CCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACC AGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTAGGCCTTCTCTCA CTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTCGG CCTTCTCTCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACC AGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCA GTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGG CCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACC AGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCA GTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGG CCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACC AGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCCCTCA G	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	393	0.0025	-600	c.310 others(17): Show c.310-5205_310-4606del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
C7orf50_chr7_992006_1143247	1127635	AGGCTGGA others(593): Show AGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGC AGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATC TCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCC G	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	215	0.0047	-600	c.-1- others(13): Show c.-1-849_-1-250del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CDH4_chr20_61247261_61945617	61942997	TGAGGAGC others(593): Show TGAGGAGCACTGCGACTGTCTGCACCATGGCCGCCCCTTCTCACCGACCA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCGGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCCTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0054 a0001c0003t0004g0054	1	74	0.0135	-600	c.60 others(11): Show c.6055_*6654del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2381		chr20	TogoVar
CERS5_chr12_50124289_50172369	50170882	GGGTTCAC others(593): Show GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCTTTTTTTTTTTTTTTTTTGAAACGGAGTCTCGGTCTGTAGCCCAG GCTGGAGTGCACTGGCGGGATCTCGGCTCACTTCAGCCTCCGTCTCCTGG ATTCAAGCTATTCTCTCCCCTCAGCCTCCCGAGTAGCTAGGATTACAGGC AGGCTCCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAGATTGTGTT TCGCTATGTTGGCCATGGAACTCCTGACCCAAGTGATCCACCCGCCTGGG CCTCGCAAATGGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCGAAT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCC AGGCTGGAGAGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTTCC A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	318	0.0031	-600	c.-41 others(11): Show c.-4185_-3586del	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding		3514		chr12	TogoVar
COL23A1_chr5_178232618_178595393	178525019	CGGCTAAG others(593): Show CGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCC CAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGC GCGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATG GCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTG GTAAGAAATGGCGACACAGCGCGCAGACCCCAGGACCCGAAGGCTAAGCT CACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCAGGACCCGA AGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCC CGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGC GCGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATG GCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTG GTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCT CACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGA A	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(90): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02622.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03831.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18964.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0005 a0002c0002 others(9): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0002c0018 a0003c0004 a0003c0007 a0004c0006 a0004c0011 a0005c0008 a0005c0014 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0002c0002t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0018t0009 a0003c0004t0003 a0003c0007t0001 a0004c0006t0003 a0004c0006t0004 a0004c0011t0001 a0005c0008t0002 a0005c0014t0002 a0006c0010t0002	a0001c0001t0001g0091 a0001c0001t0002g0049 a0001c0001t0002g0055 others(90): Show a0001c0001t0001g0091 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0083 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0175 a0001c0001t0002g0189 a0001c0001t0002g0202 a0001c0001t0003g0159 a0001c0001t0003g0169 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0037 a0001c0001t0004g0041 a0001c0001t0004g0054 a0001c0001t0004g0072 a0001c0001t0004g0100 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0164 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0075 a0001c0001t0005g0084 a0001c0001t0005g0147 a0001c0001t0005g0207 a0001c0001t0005g0222 a0001c0001t0006g0230 a0001c0005t0001g0106 a0001c0005t0004g0111 a0001c0005t0004g0223 a0001c0005t0005g0059 a0001c0005t0005g0060 a0001c0005t0005g0102 a0002c0002t0001g0015 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0040 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0082 a0002c0002t0001g0176 a0002c0002t0001g0186 a0002c0002t0001g0198 a0002c0002t0002g0149 a0002c0003t0002g0016 a0002c0003t0002g0104 a0002c0003t0002g0112 a0002c0003t0003g0094 a0002c0003t0003g0126 a0002c0003t0003g0158 a0002c0003t0003g0168 a0002c0003t0003g0195 a0002c0003t0004g0192 a0002c0003t0005g0068 a0002c0003t0005g0087 a0002c0003t0005g0115 a0002c0018t0009g0233 a0003c0004t0003g0010 a0003c0004t0003g0145 a0003c0004t0003g0217 a0003c0004t0003g0220 a0003c0007t0001g0013 a0003c0007t0001g0044 a0003c0007t0001g0097 a0003c0007t0001g0098 a0004c0006t0003g0130 a0004c0006t0003g0172 a0004c0006t0004g0135 a0004c0006t0004g0136 a0004c0011t0001g0086 a0005c0008t0002g0053 a0005c0008t0002g0093 a0005c0008t0002g0095 a0005c0008t0002g0187 a0005c0014t0002g0017 a0006c0010t0002g0117	93	225	0.4133	-600	c.361 others(19): Show c.361+35063_361+35662del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
CYP4F11_chr19_15907377_15939529	15933329	AGAATGAG others(593): Show AGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTG AGCGAGAAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGA G	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0286 a0001c0002t0005g0286	1	122	0.0082	-600	c.198 others(15): Show c.198+282_198+881del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DCC_chr18_52335197_53540899	53085985	TCTTCTCC others(593): Show TCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTC TTTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCT TCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCT TCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTT CTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTC TTCTTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTTCTTCTTCTT C	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0009 a0001c0002t0006g0009	1	113	0.0088	-600	c.126 others(21): Show c.1261+19825_1261+20424del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX51_chr12_132131594_132149319	132134862	CCCGAGTG others(593): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCG GTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTC CCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCTCCGAGTG TGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCC ACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCGCTCCTCCCACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCC CACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCC TCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTG TGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACC T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18993.hp1 NA19079.hp2 HG00438.hp2 NA18993.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0005 a0002c0002t0004g0006 a0002c0002t0004g0005 a0002c0002t0004g0006	3	326	0.0092	-600	c.38 others(11): Show c.3810_*4409del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1731		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1403084	CCTCATCC others(593): Show CCTCATCCTCCAGAGTCGTGAAGAGAGTGTAAAATCGCTGATCACTCCAG GTGGTGAAGGGTGGATGTGAAGTAAGGAGATTAAGGCGACTTACTCGTCG TCCTGCGTAGTGAAGAGATTGTAAAAAGAGGGCTACATCCAAGTCCTCAT GCGTGGAGGATGAATTGAGAAGATCCCCCCACCTCCTCGTCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTG TATTGAGTGCTTACTGAGCGCCACTCCTTGTCCTCCGGAGTCGTGTATTG AGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGAG CTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTA CTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGA GCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGC CACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCC TCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCTCCCTCCT T	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	40	0.0250	-600	c.107 others(19): Show c.107-98281_107-97682del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
EXOC2_chr6_480154_698139	601846	GAATCCAC others(593): Show GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC A	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	270	0.0037	-600	c.743 others(17): Show c.743-3221_743-2622del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FER_chr5_108742897_109201841	108969614	TTTGAACA others(593): Show TTTGAACACTGTGAATGTATTACCTATTCAAAAGGTAAGATTAAGAAATA TTGAAAACATGGCACCTGTCCTCAAGCAAATATAAATTTTTAGGATGATG CTTTATTGAGAAATTATTGATAAGAAGACAAAATATTCATGCTATATATT GTTAAAGTAGGAAAAGCAGTTTATAAAATAGCATTATGGTATTTATCTGA TTTTTATTAAATAAAGTATAGATATCCAAATACATGGAAAAAGTTGGAAG GCTATATTCCAGGATATTAATTATGATTACCTTAGAGTGGAGTAGTAATG GGTGATTTGGGGCAGTTTAAAAACGTTTTTCATTGAACATGTTACTATGT TTGTAATATGAACATTTTCTAAAATTATATTACATGCTAATGTTTTGTAG AACACTATAGAGCAATGTTTTAAAAACTATTTTTCCCATAATTTATATGA AGAAATCGCATTGTAGTTTAAGACTCAGGACACACAAACTTGAGAGTATT GATATTTATGTGTGTGCGTAACTAAAACAAGTTTTCCAAACACTGTTTTA TGCTTCCTAAATGAGCTGCATTATATTTAATTTATTTGATTTATTTATTT A	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18522.hp2 HG02647.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0008 a0003c0009t0008 a0001c0001t0008 a0003c0009t0008	a0001c0001t0008g0047 a0003c0009t0008g0056 a0001c0001t0008g0047 a0003c0009t0008g0056	2	136	0.0147	-600	c.165 others(21): Show c.1656+10270_1656+10869del	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar

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