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
CAPN11_chr6_44153820_44189401	44182285	C C	CCACACTC others(288): Show CCACACTCACACACACACACATACACACTCACATACAGACACAACCACAC CACACACACACACACATACAGACACAACCACACCACACACACACACACAT ACACACTCACATACAGACACAACCACACCACACACACATACACACTCACA TACAGACACAACCACACCACACACACACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACACACACACACAGACACAACCACA CCACACACACACACATACACACTCACATACAGATACAACCACACCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00639.hp1 others(7): Show HG00140.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG01074.hp2 HG01081.hp2 HG01361.hp1 HG01516.hp2 HG03927.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0044	10	176	0.0568	295	c.193 others(312): Show c.1939-651_1939-650insTCACACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACACACATACAGACACAACCACACC ACACACACACACACATACACACTCACATACAGACACAACCACACCACACA CACATACACACTCACATACAGACACAACCACACCACACACACACACACAC ACATACACACTCACATACAGACACAACCACACCACACACACACACACACA CACAGACACAACCACACCACACACACACACATACACACTCACATACAGAT ACAACCACACCACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CBFA2T3_chr16_88869858_88982207	88894203	T T	TGTACACA others(288): Show TGTACACACATGCACACACACATGCACACACACATGCATACATATACACA TGCACACAACGTACACACATGCACACACACATGCACACACACATGCATAC ATATACACATGCACACAACGTACACACATGCACGCACACATGCACACACA CATGCATACATATACACATGCACACAACGTACACACATGCACGCACACAT GCACACACACATGCATACATATACACATGCACACAACGTACACACATGCA CGCACACATGCACACACACATGCATACATATACACATGCACACAAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0248 a0001c0001t0031g0248	1	272	0.0037	295	c.380 others(312): Show c.380-1719_380-1718insGTTGTGTGCATGTGTATATGTATGCATG TGTGTGTGCATGTGTGCGTGCATGTGTGTACGTTGTGTGCATGTGTATAT GTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACGTTGTGTGCA TGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACG TTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGTGTGCAT GTGTGTACGTTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTG TGTGTGCATGTGTGTAC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CCDC144A_chr17_16685241_16782881	16761076	T T	TCAGCACT others(288): Show TCAGCACTTTGGGAGGCCGAGGCGAGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCATCTACTAAAAATAAAAATAA ATTAAAAAAAATTTAGCCAGGGGTGGTGGTGGGCACCTGTAGTCCCAGCT ACTCCAGCTACGCAGGAGAATGGCCTGAACCCGGGAGGCAGAGCTTGTAG TGAGCCGAGATCCTGTCACTGTACTCCGGCCTGGGCGACAGAGCGAGACT CCATCTCAAAAAAAAAAAAAAAAAAATTATTAGTTTTTTGTTAGAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	316	0.0032	295	c.337 others(312): Show c.3373-253_3373-252insTAAATTAAAAAAAATTTAGCCAGGGGTG GTGGTGGGCACCTGTAGTCCCAGCTACTCCAGCTACGCAGGAGAATGGCC TGAACCCGGGAGGCAGAGCTTGTAGTGAGCCGAGATCCTGTCACTGTACT CCGGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAA ATTATTAGTTTTTTGTTAGACCAGCACTTTGGGAGGCCGAGGCGAGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCA TCTACTAAAAATAAAAA	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC63_chr12_110841987_110912535	110905910	T T	TTATATTA others(288): Show TTATATTATATATAATATATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATAAAATATATATTATATATAA TATATATTATATAAAATATATATTATATATAATATATATTATATAAAATA TATATTATATTATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATATAATATATATTATATAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	270	0.0037	295	c.154 others(314): Show c.1546+1146_1546+1147insTAATATATATTATATAAAATATATAT TATATTATATATAATATATATTATATAAAATATATATTATATATAATATA TATTATATAAAATATATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTATATAAAATATATATTATATTATATATAA TATATATTATATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905933	A A	ATATATAA others(288): Show ATATATAATATATATTTTATAAAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATATAATATATATTATATAAAATATATAT TATATATAATATATATTATATAAAATATATATTATATTATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATAAAATATATATTATATAAAATATATATTATATATAA TATATATTATATAAAATATATATTATATTATATATAATATATATTA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	250	0.0040	295	c.154 others(314): Show c.1546+1146_1546+1147insTAATATATATTTTATAAAATATATAT TATATTATATATAATATATATTATATAAAATATATATTATATATAATATA TATTATATAAAATATATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTATATAAAATATATATTATATTATATATAA TATATATTATATAAAATATATATTATATTATATAAAATATATATTATATA AAATATATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905933	A A	ATATATAA others(288): Show ATATATAATATATATTTTATAAAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATATAATATATATTATATAAAATATATAT TATATATAATATATATTATATAAAATATATATTATATTATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATAAAATATATATTATATATAA TATATATTATATAAAATATATATTATATTATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp2 others(30): Show HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00673.hp1 HG02015.hp1 HG02040.hp1 HG02135.hp1 HG02602.hp2 HG03017.hp2 HG03491.hp1 HG03579.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp2 NA18940.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp1 NA18963.hp2 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18987.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19011.hp2 NA19064.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 a0001c0001t0001 a0001c0001t0002 a0001c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0025 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0002g0214 a0001c0016t0001g0027	33	282	0.1170	295	c.154 others(314): Show c.1546+1146_1546+1147insTAATATATATTTTATAAAATATATAT TATATTATATATAATATATATTATATAAAATATATATTATATATAATATA TATTATATAAAATATATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTATATAAAATATATATTATATTATATATAA TATATATTATATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC6_chr10_59783747_59911556	59882522	G G	GGGGAGAA others(288): Show GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	230	0.0043	295	c.303 others(314): Show c.303+23599_303+23600insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC77_chr12_396644_447642	420642	A A	AAACACAC others(288): Show AAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCGCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA ACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGT TCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0337 a0003c0003t0004g0337	1	416	0.0024	295	c.413 others(312): Show c.413+2008_413+2009insCACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACAC ATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421028	A A	ACTCCATG others(288): Show ACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTT CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACAC TCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAG GGTAAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0168 a0003c0003t0009g0168	1	159	0.0063	295	c.413 others(312): Show c.413+2449_413+2450insATACACATAGCAGCACCCTCCATGCTCC ATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATAC ACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(288): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02015.hp1 HG02071.hp1 others(10): Show HG00609.hp1 HG02015.hp1 HG02071.hp1 HG02080.hp1 HG02738.hp1 HG03017.hp1 HG03688.hp1 NA18961.hp2 NA18969.hp2 NA18971.hp1 NA18989.hp1 NA19065.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0003g0016 a0001c0001t0004g0109 a0001c0001t0004g0112 others(2): Show a0001c0001t0003g0016 a0001c0001t0004g0109 a0001c0001t0004g0112 a0001c0002t0003g0022 a0001c0002t0003g0040	13	357	0.0364	295	c.626 others(310): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATAGAGATTGGG	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar
CDC34_chr19_526760_547087	545099	A A	ATCCCTCC others(288): Show ATCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATC CACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTC CTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCCT CCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATCCACCCATCCATCCA TCATGACTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCA TCCATCATCCATCCCTCCTTCCATCCCTCCTTCCTCCCTCCCTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	283	0.0035	295	c.35 others(306): Show c.3547_*3548insTCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCC CTCCTTCCATGTATCCACCCATCCATCCATCATGCCTCTCTCTTCCTTTC CCCCCTCCTTCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTCCTTC CATCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCCCTCCTTCCATGTAT CCACCCATCCATCCATCATGACTCTCTCTTCCTTTCCCCCCTCCTTCCCT CCTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCT CCCTCCCTTTG	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding		3013		chr19	TogoVar
CDC34_chr19_526760_547087	545099	A A	ATCCCTCC others(288): Show ATCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATC CACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTC CTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCCT CCACCCGTCGTCCCTCCCTCCCTCCTTCCATGTATCCACCCATCCATCCA TCATGACTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCA TCCATCATCCATCCCTCCTTCCATCCCTCCTTCCTCCCTCCCTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02572.hp1 others(1): Show HG01243.hp2 HG02258.hp1 HG02572.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0111 a0001c0001t0001g0021 a0001c0001t0001g0111	4	286	0.0140	295	c.35 others(306): Show c.3547_*3548insTCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCC CTCCTTCCATGTATCCACCCATCCATCCATCATGCCTCTCTCTTCCTTTC CCCCCTCCTTCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTCCTTC CATCCCTCCTTCCCTCCACCCGTCGTCCCTCCCTCCCTCCTTCCATGTAT CCACCCATCCATCCATCATGACTCTCTCTTCCTTTCCCCCCTCCTTCCCT CCTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCT CCCTCCCTTTG	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding		3013		chr19	TogoVar
CDC34_chr19_526760_547087	545099	A A	ATCCCTCC others(288): Show ATCCCTCCTTCCCTCCACCCGTCATCCTTCCCTCCCTCCTTCCATGTATC CACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTC CTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCCT CCACCCGTCATCCTTCCCTCCCTCCTTCCATGTATCCACCCATCCATCCA TCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCA TCCATCATCCATCCCTCCTTCCATCCCTCCTTCCTCCCTCCCTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01261.hp1 HG01515.hp2 others(9): Show HG01255.hp2 HG01261.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp2 HG02148.hp2 HG02723.hp1 HG02735.hp2 HG03209.hp1 HG03688.hp2 NA18960.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0078 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084	12	294	0.0408	295	c.35 others(306): Show c.3547_*3548insTCCCTCCTTCCCTCCACCCGTCATCCTTCCCTCC CTCCTTCCATGTATCCACCCATCCATCCATCATGCCTCTCTCTTCCTTTC CCCCCTCCTTCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTCCTTC CATCCCTCCTTCCCTCCACCCGTCATCCTTCCCTCCCTCCTTCCATGTAT CCACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCT CCTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCT CCCTCCCTTTG	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding		3013		chr19	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(288): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCT CGCCCTCTCTCTCCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCC CTCTCTCTCCCTGCCCCTCCCTCCCTCTCTGTCTCCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0040 a0001c0003t0029g0040	1	3	0.3333	295	c.169 others(316): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCG CCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCG CCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCCCTTCCTTCTCTC TCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCCCTCCCTCTCTGT CTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDHR2_chr5_176544342_176600824	176591689	A A	ATGATGGT others(288): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGACGATGGTGGT GGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19078.hp2 NA19001.hp2 NA19078.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0197 a0003c0002t0001g0212 a0003c0002t0001g0197 a0003c0002t0001g0212	2	226	0.0088	295	c.373 others(312): Show c.3734+278_3734+279insTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGACGATGGTGGTGG TGGTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGG TGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGA TGGTGGTGATGATGGTG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(288): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCGCCCCGCCCCGCCCCGCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0065 a0003c0003t0001g0065	1	8	0.1250	295	c.217 others(310): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCGCCCCGCCCCGCCCCGCCCCTCCCCCCCCCCGCGCTG CCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(288): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18997.hp2 NA18993.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	9	0.2222	295	c.217 others(310): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCGCGCTG CCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795610	C C	CCCCCGGC others(288): Show CCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCTCCC CGCCCCGCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0102 a0010c0010t0001g0102	1	420	0.0024	295	c.217 others(310): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCTCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCGCGCTG CCCGTGTGGCTGTCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLCN5_chrX_49917596_50104230	50022388	T T	TAGCGGTC others(288): Show TAGCGGTCTATCAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0165 a0001c0003t0003g0165	1	161	0.0062	295	c.17- others(312): Show c.17-19911_17-19910insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCAC AGCGGTCTATCAATTTT	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN5_chrX_49917596_50104230	50022388	T T	TAGCGGTC others(288): Show TAGCGGTCTATCAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0167 a0001c0003t0003g0167	1	161	0.0062	295	c.17- others(312): Show c.17-19911_17-19910insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCAC AGCGGTCTATCAATTTT	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL18A1_chr21_45400165_45518720	45500771	T T	TGTTGGGT others(288): Show TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG TGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19012.hp1 HG03834.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0055 a0001c0002 a0001c0055	a0001c0002t0002 a0001c0055t0003 a0001c0002t0002 a0001c0055t0003	a0001c0002t0002g0070 a0001c0055t0003g0139 a0001c0002t0002g0070 a0001c0055t0003g0139	2	286	0.0070	295	c.268 others(314): Show c.2683+3112_2683+3113insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(288): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTTGGTGGTGGTGATGGTGGT GGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGGTGATGATGATG GCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGAT GATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGA TGATGATGGCAGGGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG00741.hp1 others(34): Show HG00438.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01175.hp1 HG01515.hp2 HG01934.hp1 HG01993.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02148.hp2 HG02155.hp2 HG03017.hp2 HG03654.hp1 HG03688.hp2 HG04228.hp1 NA18944.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18965.hp2 NA18969.hp2 NA18986.hp1 NA19004.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19077.hp1 NA19081.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0011 a0013 a0032 a0056 a0057 a0059	a0001c0003 a0001c0017 a0001c0107 others(23): Show a0001c0003 a0001c0017 a0001c0107 a0001c0142 a0001c0148 a0002c0001 a0003c0005 a0004c0013 a0004c0034 a0004c0074 a0004c0088 a0004c0095 a0005c0026 a0005c0032 a0005c0063 a0007c0099 a0008c0048 a0008c0182 a0009c0007 a0011c0125 a0011c0149 a0013c0162 a0032c0117 a0056c0091 a0057c0150 a0059c0100	a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 others(29): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0017t0003 a0001c0017t0004 a0001c0107t0001 a0001c0142t0003 a0001c0148t0001 a0002c0001t0001 a0003c0005t0001 a0004c0013t0002 a0004c0013t0003 a0004c0034t0001 a0004c0074t0003 a0004c0088t0004 a0004c0095t0004 a0005c0026t0002 a0005c0032t0003 a0005c0032t0018 a0005c0063t0001 a0007c0099t0005 a0008c0048t0003 a0008c0182t0003 a0009c0007t0001 a0009c0007t0004 a0011c0125t0005 a0011c0149t0005 a0013c0162t0002 a0032c0117t0004 a0056c0091t0004 a0057c0150t0003 a0059c0100t0013	a0001c0003t0002g0044 a0001c0003t0003g0107 a0001c0003t0003g0237 others(34): Show a0001c0003t0002g0044 a0001c0003t0003g0107 a0001c0003t0003g0237 a0001c0003t0006g0143 a0001c0017t0003g0146 a0001c0017t0004g0140 a0001c0107t0001g0052 a0001c0142t0003g0123 a0001c0148t0001g0238 a0002c0001t0001g0074 a0003c0005t0001g0253 a0003c0005t0001g0297 a0004c0013t0002g0287 a0004c0013t0002g0288 a0004c0013t0003g0271 a0004c0013t0003g0285 a0004c0034t0001g0229 a0004c0074t0003g0249 a0004c0088t0004g0235 a0004c0095t0004g0260 a0005c0026t0002g0062 a0005c0032t0003g0013 a0005c0032t0018g0012 a0005c0063t0001g0011 a0007c0099t0005g0220 a0008c0048t0003g0183 a0008c0182t0003g0156 a0009c0007t0001g0061 a0009c0007t0001g0070 a0009c0007t0004g0066 a0011c0125t0005g0291 a0011c0149t0005g0240 a0013c0162t0002g0027 a0032c0117t0004g0073 a0056c0091t0004g0278 a0057c0150t0003g0241 a0059c0100t0013g0153	37	56	0.6607	295	c.371 others(314): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT TGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGT GATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGG GGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATG GCGGGGGTGGTGGTGGTGATGATGATGGCAGGGGTGGTGGTGGTGGTGAT GATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A2_chr13_110302284_110518209	110355759	C C	CTAGCTCA others(288): Show CTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTACTAGCTCACCTGTGTGT GTGGGGGAGGGCTGTACTAGCTCACCTGTGTGGGGGGAGGGCAGTACCAG CTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACTTGTGTGTGTGG GGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGCACTAG CTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGG GGGAGGGCTGCACTAGCTCACTTGTGTGTGTGGGGGAGGGCTGCAG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18975.hp2 NA18961.hp1 NA18975.hp2	a0002 a0005 a0002 a0005	a0002c0087 a0005c0021 a0002c0087 a0005c0021	a0002c0087t0001 a0005c0021t0001 a0002c0087t0001 a0005c0021t0001	a0002c0087t0001g0257 a0005c0021t0001g0211 a0002c0087t0001g0257 a0005c0021t0001g0211	2	322	0.0062	295	c.100 others(312): Show c.100-1696_100-1695insTGGGGGAGGGCTGTACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGTACTAGCTCACCTGTGTGGGGGGAGGGCAGTA CCAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACTTGTGTGT GTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGCA CTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGT GTGGGGGAGGGCTGCACTAGCTCACTTGTGTGTGTGGGGGAGGGCTGCAG TAGCTCACCTGTGTGTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CRHBP_chr5_76948045_76974471	76974447	A A	AGGCTGCT others(288): Show AGGCTGCTTGCTATTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGC CCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTT CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02258.hp2 HG02615.hp1 others(4): Show HG01081.hp2 HG02258.hp2 HG02615.hp1 HG02615.hp2 NA18956.hp1 NA18978.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0001t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0123 a0001c0001t0001g0130 others(3): Show a0001c0001t0001g0036 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0004g0006 a0001c0003t0001g0055	7	304	0.0230	295	c.55 others(306): Show c.5562_*5563insGGCTGCTTGCTATTTTTTTTTTTTTTGAGACGGA GTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCAC TGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	CRHBP	ENSG00000145708.11	transcript	ENST00000274368.9	protein_coding		4977		chr5	TogoVar
CROCC2_chr2_240901336_240998311	240923766	G G	GTCCCCCA others(288): Show GTCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACC CGGCCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTA ACCCGGCCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACAC TAACCCAGCCCCCACACTAACCCAGCCCCCACACTGACCCAGCCCCCACA CTAACCCAGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCA CACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0258 a0008c0008t0002g0258	1	211	0.0047	295	c.488 others(312): Show c.488+1121_488+1122insTCCCCCACACTAACCCGGCCCCCACACT GACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCC ACACTGACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCC CACACTGACCCAGCCCCCACACTAACCCAGCCCCCCACACTAACCCAGTC CCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGC CCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924305	A A	AGTCCCCA others(288): Show AGTCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCCACACTAAC CCAGCACCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTG ACCCAGCCCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCC CCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0146 a0012c0013t0001g0146	1	226	0.0044	295	c.489 others(312): Show c.489-1418_489-1417insTCCCCACACTAACCCGGCCCCCACACTG ACCCGGCCCCCCACACTAACCCAGCACCCACACTGACCCGGCCCCCACAC TGACCCGGCCCCCCACACTGACCCAGCCCCCCACACTGACCCAGCCCCCA CACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGC CCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCG GCCCCCACACTAACCCG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924568	C C	CCCCACAC others(288): Show CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGG TCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCCACACTGACC CGGCCCCCCACACTGACCCAGTCCCCCACACTAACCCGGCCCCCACACTA ACCCGGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0149 a0012c0013t0001g0149	1	300	0.0033	295	c.489 others(312): Show c.489-1153_489-1152insACACTAACCCAGCCCCCACACTAACCCG GCCCCCACACTAACCCGGTCCCCACACTAACCCGGCCCCCCACACTGACC CGGCCCCCCACACTGACCCGGCCCCCCACACTGACCCAGTCCCCCACACT AACCCGGCCCCCACACTAACCCGGTCCCCACACTAACCCAGTCCCCACAC TAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCC CACACTAACCCAGTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGGGG others(288): Show TGAGGGGGAGGGGAGGGGGATGTGAGGGGGAGGGGAGGGGGATGTGAGGG GGAGGGCAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGGGGAGGGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAGGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGGAGGGGG AGGGGAGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGGAGGGGG AGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0024 a0016c0028t0024	a0016c0028t0024g0040 a0016c0028t0024g0040	1	16	0.0625	295	c.416 others(316): Show c.416-142659_416-142658insCCCTCCCCCTCCCCCTCCCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCC CCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTGCCCTCCCCCTCACATCCCCCTCCCCTCCCCCTCA CATCCCCCTCCCCTCCCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(288): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp1 HG01256.hp2 others(24): Show HG00741.hp1 HG01192.hp1 HG01256.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG03688.hp1 NA18943.hp2 NA18949.hp2 NA18950.hp1 NA18959.hp1 NA18973.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA19001.hp2 NA19005.hp1 NA19064.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA20805.hp1	a0001 a0008 a0014 others(1): Show a0001 a0008 a0014 a0016	a0001c0001 a0001c0004 a0001c0012 others(3): Show a0001c0001 a0001c0004 a0001c0012 a0008c0010 a0014c0020 a0016c0019	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0012t0001 a0008c0010t0002 a0014c0020t0001 a0016c0019t0001	a0001c0001t0001g0053 a0001c0001t0001g0128 a0001c0001t0001g0142 others(24): Show a0001c0001t0001g0053 a0001c0001t0001g0128 a0001c0001t0001g0142 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0241 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0285 a0001c0004t0001g0091 a0001c0004t0001g0094 a0001c0012t0001g0043 a0001c0012t0001g0044 a0008c0010t0002g0292 a0008c0010t0002g0295 a0014c0020t0001g0195 a0016c0019t0001g0234	27	299	0.0903	295	c.-27 others(316): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNND2_chr5_10966836_11909446	11391150	T T	TAAGAAAG others(288): Show TAAGAAAGGCAGGATATTCTCACTCATAGGTGGGAATTGAACAATGAGAT CACATGGACACAGGAAGGGGAATATCACACTGTGGGGACTGTGGTGGGGT CGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGA CACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAAC TAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAA AAAAAAAAAAAAATTTAACAGAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	18	0.0556	295	c.612 others(312): Show c.612+5880_612+5881insTTTTTTTTTTTTTTTTTTTTTTTTTCTG TTAAATTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATG TGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGC GCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTA TCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCACAGTGTGATATTCC CCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAG AATATCCTGCCTTTCTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	6/21			chr5	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(288): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCAGGCCACACCACACCAGGCCACACCACACCAA GCCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCAC ACCACACCATACCACACCACACCAGGCCACACCACACCAAGCCACACCAC ACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAG GCCACACCACACCACGCCACACCACACCACGCCACACCACACCAGG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	76	0.0132	295	c.510 others(310): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCAGGCCACACCACACCAGGCCA CACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCA CACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCA AGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCA CACCACACCAGGCCACACCACACCACGCCACACCACACCACGCCACACCA CACCAGGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(288): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAG GCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCACGCCACACCACACCACGCCACACCACACCAGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA21309.hp2 HG03195.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0287 a0001c0002t0008g0288 a0001c0002t0008g0287 a0001c0002t0008g0288	2	77	0.0260	295	c.510 others(310): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCA CACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCA CACCATACCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCACGCCACACCACACCACGCCACACCA CACCAGGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(288): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAG GCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCAGGCCACACCACACCACGCCACACCACACCACG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0307 a0001c0001t0004g0307	1	76	0.0132	295	c.510 others(310): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCA CACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCA CACCATACCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCAGGCCACACCACACCACGCCACACCA CACCACGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(288): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAG GCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCAGGCCACACCACACCACGCCACACCACACCAGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	76	0.0132	295	c.510 others(310): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCA CACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCA CACCATACCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCAGGCCACACCACACCACGCCACACCA CACCAGGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(288): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAGGCCACGCCACACCATACCACACCACACCAGGCCACACCACACCAG GCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCACGCCACACCACACCACGCCACACCACACCAGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02055.hp1 NA20752.hp1 HG02004.hp2 HG02055.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0021 a0001c0001t0001g0045	3	78	0.0385	295	c.510 others(310): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAGGCCACGCCACACCATACCACACCACACCAGGCCA CACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCA CACCATACCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCACGCCACACCACACCACGCCACACCA CACCAGGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DFFB_chr1_3852476_3890429	3868686	C C	CAAGCCAC others(288): Show CAAGCCACACCACACCAGGCCACACCACACCAGCCCACACCACACCAAGC CACACCACACCAGGCCACACCACACCATACCACACCATACCAGGCCACAC CACACCATACCACACCACACCAGGCCACACCACACCAAGCCACACCACAC CAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAGGC CACACCACACCACGCCACACCACACCACGCCACACCACACCAGGCCACAC CACACCACGCCACACCACACCACGCCACGCCACACCAGGCCACGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(14): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG01074.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG02486.hp2 HG02602.hp1 HG02698.hp2 HG03654.hp2 HG03927.hp2 HG04204.hp1 NA18970.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0010 a0001c0002t0008 others(1): Show a0001c0001t0009 a0001c0001t0010 a0001c0002t0008 a0001c0002t0012	a0001c0001t0009g0015 a0001c0001t0009g0252 a0001c0001t0009g0263 others(11): Show a0001c0001t0009g0015 a0001c0001t0009g0252 a0001c0001t0009g0263 a0001c0001t0009g0264 a0001c0001t0009g0274 a0001c0001t0009g0300 a0001c0001t0009g0301 a0001c0001t0010g0023 a0001c0001t0010g0062 a0001c0001t0010g0072 a0001c0001t0010g0105 a0001c0001t0010g0210 a0001c0002t0008g0299 a0001c0002t0012g0312	17	233	0.0730	295	c.510 others(310): Show c.510+634_510+635insAGCCACACCACACCAGGCCACACCACACCA GCCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCATACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCA CACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCAGGCCACACCACACCACGCCACACCACACCACGCCA CACCACACCAGGCCACACCACACCACGCCACACCACACCACGCCACGCCA CACCAGGCCACGCTA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DGKE_chr17_56829151_56874567	56870208	T T	TAAGAAAT others(288): Show TAAGAAATGATTTGACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCG GGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAA ACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGC GCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp2 others(150): Show HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19058.hp1 NA19058.hp2 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0003c0010 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0056 a0001c0004t0001 a0001c0004t0035 a0001c0006t0001 a0003c0010t0043 a0005c0008t0013	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0020 others(88): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0003g0050 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0007g0003 a0001c0001t0007g0029 a0001c0001t0007g0060 a0001c0001t0007g0106 a0001c0001t0008g0001 a0001c0001t0008g0011 a0001c0001t0009g0009 a0001c0001t0009g0141 a0001c0001t0009g0143 a0001c0001t0010g0001 a0001c0001t0010g0024 a0001c0001t0010g0076 a0001c0001t0010g0091 a0001c0001t0011g0015 a0001c0001t0011g0066 a0001c0001t0011g0067 a0001c0001t0011g0103 a0001c0001t0012g0138 a0001c0001t0012g0139 a0001c0001t0012g0140 a0001c0001t0012g0142 a0001c0001t0013g0058 a0001c0001t0013g0075 a0001c0001t0013g0088 a0001c0001t0014g0038 a0001c0001t0014g0039 a0001c0001t0015g0003 a0001c0001t0015g0061 a0001c0001t0022g0001 a0001c0001t0022g0092 a0001c0001t0023g0001 a0001c0001t0023g0081 a0001c0001t0024g0001 a0001c0001t0024g0003 a0001c0001t0034g0096 a0001c0001t0039g0003 a0001c0001t0040g0003 a0001c0001t0041g0003 a0001c0001t0042g0042 a0001c0001t0044g0097 a0001c0001t0045g0001 a0001c0001t0047g0020 a0001c0001t0048g0001 a0001c0001t0050g0001 a0001c0001t0051g0001 a0001c0001t0056g0017 a0001c0004t0001g0004 a0001c0004t0001g0064 a0001c0004t0001g0078 a0001c0004t0001g0085 a0001c0004t0035g0072 a0001c0006t0001g0001 a0003c0010t0043g0107 a0005c0008t0013g0102	153	266	0.5752	295	c.74 others(306): Show c.7417_*7418insAAGAAATGATTTGACGCCTGTAATCCCAGCACTT TGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding		642		chr17	TogoVar
DGKE_chr17_56829151_56874567	56870208	T T	TAAGAAAT others(288): Show TAAGAAATGATTTGACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCG GGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAA ACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGC GCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCGCCACTGCAGTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0136 a0001c0002t0049g0136	1	114	0.0088	295	c.74 others(306): Show c.7417_*7418insAAGAAATGATTTGACGCCTGTAATCCCAGCACTT TGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCG CCACTGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding		642		chr17	TogoVar
DGKE_chr17_56829151_56874567	56870208	T T	TAAGAAAT others(288): Show TAAGAAATGATTTGACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCG GGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAA ACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGC GCTTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAGTGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0077 a0001c0004t0001g0077	1	114	0.0088	295	c.74 others(306): Show c.7417_*7418insAAGAAATGATTTGACGCCTGTAATCCCAGCACTT TGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCTTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAG GAGAGTGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding		642		chr17	TogoVar
DGKE_chr17_56829151_56874567	56870208	T T	TAAGAAAT others(288): Show TAAGAAATGGTTTGACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCG GGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAA ACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGC GCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0017 a0001c0001t0046g0017	1	114	0.0088	295	c.74 others(306): Show c.7417_*7418insAAGAAATGGTTTGACGCCTGTAATCCCAGCACTT TGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding		642		chr17	TogoVar
DIP2C_chr10_269201_694668	489815	C C	CGGGGCTT others(288): Show CGGGGCTTCCTCCACTTCACACTAGGGACATGGTGGCTCTGACGGTGCCC GGGGCTTCCTCCACTTCACACTAGGGACACGGTGGCTCTGACGGTGCCCG GGGCTTCCTCCACCTTCACACTAGGGACACGGTGGCTCTGACGGTGCCCG GGGCTTCCTCCATTTCACACCAGGGACATGGTGGCTCTGACGGTGCCTGG TCCTTCCTCCATTTCACACCAGGGACACGGTGGCTCTGACAGTGCCCGAG CCTTCCTCCATTTCACAACAGGGACACGGTGGCTCTGACGGTGCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	61	0.0164	295	c.86- others(310): Show c.86-3286_86-3285insAGGCACCGTCAGAGCCACCGTGTCCCTGTT GTGAAATGGAGGAAGGCTCGGGCACTGTCAGAGCCACCGTGTCCCTGGTG TGAAATGGAGGAAGGACCAGGCACCGTCAGAGCCACCATGTCCCTGGTGT GAAATGGAGGAAGCCCCGGGCACCGTCAGAGCCACCGTGTCCCTAGTGTG AAGGTGGAGGAAGCCCCGGGCACCGTCAGAGCCACCGTGTCCCTAGTGTG AAGTGGAGGAAGCCCCGGGCACCGTCAGAGCCACCATGTCCCTAGTGTGA AGTGGAGGAAGCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DOCK3_chr3_50669927_51389198	51015925	T T	TATGAAAT others(288): Show TATGAAATATATGATATATATATCATATATATCATATATATGATATATAT CATATATATCATATATATGATATATATCATATATATCATATATATCATAT ATATCATATATATCATATATATCATATATATGATATATATCATATATATC ATATATATGATATATATCATATATATCATATATATCATATATATCATATA TATGATATATATCATATATATCATATATATCATATATATCATATATATAT CATATATATCATATATATGATATATATATCATATATATCATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG01243.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0199 a0001c0001t0003g0201	2	150	0.0133	295	c.316 others(314): Show c.316-48523_316-48522insATGAAATATATGATATATATATCATA TATATCATATATATGATATATATCATATATATCATATATATGATATATAT CATATATATCATATATATCATATATATCATATATATCATATATATCATAT ATATGATATATATCATATATATCATATATATGATATATATCATATATATC ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATCATATATATCATATATATATCATATATATCATATATATGATATATAT ATCATATATATCATATATA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51015925	T T	TATGAAAT others(288): Show TATGAAATATATGATATATATATCATATATATCATATATATGATATATAT GATATATATCATATATATGATATATATCATATATATCATATATATCATAT ATATCATATATATCATATATATCATATATATGATATATATCATATATATC ATATATATGATATATATCATATATATCATATATATCATATATATCATATA TATGATATATATCATATATATCATATATATCATATATATCATATATATAT CATATATATCATATATATGATATATATATCATATATATCATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	149	0.0067	295	c.316 others(314): Show c.316-48523_316-48522insATGAAATATATGATATATATATCATA TATATCATATATATGATATATATGATATATATCATATATATGATATATAT CATATATATCATATATATCATATATATCATATATATCATATATATCATAT ATATGATATATATCATATATATCATATATATGATATATATCATATATATC ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATCATATATATCATATATATATCATATATATCATATATATGATATATAT ATCATATATATCATATATA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(288): Show ATATATACTATATATATACTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATAATATAGTGTATATATAGTATATATATAT AGTGTATATATAGTATATATATATAGTATATATATAGTATATATATATAG TGTATATATATAGTATATATATATAGTGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATGTATATATATATAGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0010 a0001c0001t0046g0010	1	169	0.0059	295	c.355 others(314): Show c.355-25704_355-25703insTATATACTATATATATACTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATAATATA GTGTATATATAGTATATATATATAGTGTATATATAGTATATATATATAGT ATATATATAGTATATATATATAGTGTATATATATAGTATATATATATAGT GTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATAT ATATGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556316	A A	AGTATATA others(288): Show AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATATA TATAGTATATATATAGTGTATATAGTATATATATAGTATATATATAGTGT ATATAGTATATATATAGTATATATATAGTGTATATAGTATATATATGTAT ATATATATAGTATATATATAGTATATATATATAGTATATATATAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01346.hp1 HG00099.hp2 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0043 a0001c0002t0004 a0001c0002t0043	a0001c0002t0004g0013 a0001c0002t0043g0191 a0001c0002t0004g0013 a0001c0002t0043g0191	2	298	0.0067	295	c.355 others(314): Show c.355-25653_355-25652insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATATAGTATATAT ATAGTATATATATATAGTATATATATAGTATATATATATAGTATATATAT AGTATATATATATAGTGTATATATATAGTATATATATAGTGTATATAGTA TATATATAGTATATATATAGTGTATATAGTATATATATAGTATATATATA GTGTATATAGTATATATATGTATATATATATAGTATATATATAGTATATA TATATAGTATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(288): Show ATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTGTATATATATAGTATATATATAGTGTATATATATAG TATATATATAGTATATATAGTATATATATAGTATATATATAGTATATATA GTATATATATGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATATAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	248	0.0040	295	c.355 others(314): Show c.355-25620_355-25619insGTATATATATAGTATATATATAGTAT ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTGTATATATATAGTATATATAT AGTGTATATATATAGTATATATATAGTATATATAGTATATATATAGTATA TATATAGTATATATAGTATATATATGTATATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATATAGTATATATATAGTA TATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DTD1_chr20_18583054_18771644	18655467	T T	TAAAACTT others(288): Show TAAAACTTTGTATTATATTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp2 HG02886.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0028 a0001c0003t0013 a0001c0003t0028	a0001c0003t0013g0146 a0001c0003t0028g0155 a0001c0003t0013g0146 a0001c0003t0028g0155	2	395	0.0051	295	c.477 others(314): Show c.477+27250_477+27251insTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAACTTTGTATTATA	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EIPR1_chr2_3183970_3382818	3315642	C C	CCCCATCC others(288): Show CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATACACACC CCCTACCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACC ATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCC CCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCC CTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCAT CACCACCATCCCCATCCACACCCCCTACCACCATCCTCACCACCAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	200	0.0050	295	c.259 others(314): Show c.259+22374_259+22375insATGGTGGTGAGGATGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTG TGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGG TGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(288): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCACACACACCCCCTACCACCATCCTCACCACCATCCCCATAC ACACCCCCACCACCATCCTCACCACCATCCCCATACACACCCCCTACCAC CACCATCACCACCATCCCCATACACACCCCCCACCACCATCCTCACCACC ATCCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	129	0.0078	295	c.259 others(314): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTGGGGGGTGTGTA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGT GAGGATGGTGGTGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTAG GGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGG GGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAT GGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(288): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	376	0.0027	295	c.83+ others(308): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG CATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar

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