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
AUH_chr9_91208823_91366918	91347963	T T	TAAAAAAC others(346): Show TAAAAAACTTTTGTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	358	0.0028	353	c.418 others(370): Show c.418+7919_418+7920insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTTGAACAAAAGTTTTTT	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	3/9			chr9	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(346): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATA TATC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	356	0.0028	353	c.249 others(372): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCAGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(346): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATA TATC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0221 a0002c0001t0001g0221	1	356	0.0028	353	c.249 others(372): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(346): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATA TATC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp1 others(22): Show HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00673.hp1 HG01099.hp2 HG01884.hp1 HG02027.hp1 HG02080.hp2 HG03491.hp2 HG03927.hp1 NA18612.hp1 NA18939.hp2 NA18949.hp2 NA18952.hp2 NA18964.hp2 NA18969.hp2 NA18987.hp2 NA18990.hp1 NA19003.hp1 NA19005.hp2 NA19056.hp2 NA19063.hp2 NA19074.hp1 NA19082.hp2	a0002 a0023 a0002 a0023	a0002c0001 a0002c0019 a0023c0028 a0002c0001 a0002c0019 a0023c0028	a0002c0001t0001 a0002c0019t0001 a0023c0028t0001 a0002c0001t0001 a0002c0019t0001 a0023c0028t0001	a0002c0001t0001g0134 a0002c0001t0001g0156 a0002c0001t0001g0207 others(22): Show a0002c0001t0001g0134 a0002c0001t0001g0156 a0002c0001t0001g0207 a0002c0001t0001g0209 a0002c0001t0001g0218 a0002c0001t0001g0225 a0002c0001t0001g0228 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0243 a0002c0001t0001g0245 a0002c0001t0001g0249 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0254 a0002c0001t0001g0260 a0002c0001t0001g0262 a0002c0001t0001g0263 a0002c0001t0001g0324 a0002c0001t0001g0338 a0002c0001t0001g0341 a0002c0001t0001g0342 a0002c0001t0001g0346 a0002c0019t0001g0113 a0023c0028t0001g0188	25	356	0.0702	353	c.249 others(372): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(346): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATA TATC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01943.hp1 HG01993.hp2 others(5): Show HG00609.hp2 HG01943.hp1 HG01993.hp2 NA18947.hp1 NA18954.hp2 NA18966.hp1 NA19062.hp2 NA19068.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0234 a0002c0001t0001g0238 a0002c0001t0001g0240 others(5): Show a0002c0001t0001g0234 a0002c0001t0001g0238 a0002c0001t0001g0240 a0002c0001t0001g0253 a0002c0001t0001g0261 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0339	8	356	0.0225	353	c.249 others(372): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(346): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATA TATC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19002.hp1 NA18994.hp2 NA19002.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0223 a0002c0001t0001g0337 a0002c0001t0001g0223 a0002c0001t0001g0337	2	356	0.0056	353	c.249 others(372): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
BBS9_chr7_33124564_33611069	33155705	A A	AAGAAATA others(346): Show AAGAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC TGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	268	0.0037	353	c.328 others(366): Show c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCAGAAATATTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCKDK_chr16_31103386_31117791	31104757	G G	GGGGGGTC others(346): Show GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTGG TGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGG CTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGG CCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGG GAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	300	0.0033	353	c.-39 others(364): Show c.-3900_-3899insGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCTT CCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCAT CCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3628		chr16	TogoVar
BCOR_chrX_40046251_40102958	40080061	C C	CAAGAAAA others(346): Show CAAGAAAAGGATGAGGGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	257	0.0039	353	c.-40 others(370): Show c.-40-2093_-40-2092insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCG GACTGCGGACTGCAATGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC TGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCTTCCCTCATCCTTTTCTT	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	1/14			chrX	TogoVar
C20orf96_chr20_265863_295750	279065	A A	AGGGCGGG others(346): Show AGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAAGGAGGGC GGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGG GAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAC GGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGA GGGCGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGCGGGACGGAGGGAGG GACGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGA GGGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0383 a0001c0001t0001g0383	1	410	0.0024	353	c.465 others(368): Show c.465+106_465+107insGCCCTCCCTCCCTCCATCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCGTCCCGCCCTCCCTCCC TCCATCCCTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCGCC CTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGT CCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCC TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCTTCCCTCCGCCCTCCCTCC CTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCGTCCCGCCCTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C9orf85_chr9_71906639_71978457	71929860	T T	TAAACTTA others(346): Show TAAACTTAAAGATATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	250	0.0040	353	c.103 others(372): Show c.103-17130_103-17129insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAACTTAAAGATATCT	C9orf85	ENSG00000155621.15	transcript	ENST00000334731.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACHD1_chr1_64465129_64698053	64492378	T T	TCCCCCTA others(346): Show TCCCCCTATTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02135.hp1 NA18962.hp1 HG00621.hp2 HG02135.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0103 a0001c0002t0001g0085 a0001c0002t0006g0069 a0001c0001t0001g0103 a0001c0002t0001g0085 a0001c0002t0006g0069	3	166	0.0181	353	c.198 others(372): Show c.198+21453_198+21454insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCCCCCTATTGTTTTCTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13381387	A A	AGACCCTG others(346): Show AGACCCTGTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0006 a0008c0012t0006	a0008c0012t0006g0120 a0008c0012t0006g0120	1	218	0.0046	353	c.540 others(370): Show c.540-9609_540-9608insATGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGATACAGGGTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137949143	C C	CTGTGTCT others(346): Show CTGTGTCTGATGTGTGTGGTGTGTGCACGTCTGGCATATGTGGTGTGTGT GTGGTGTGTGGGTGTGTGGGCGTGTGTGGTGTGGTGCATGTGTGTATCTG GTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTGTACATATGGTGTGCATG TAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTGCGCTTGTGTGTCCAGTG TGTGTGTATGGTGTATGTGTGTCTGGTATGTGTGGTGTGAGTGTGTGTGG TGTATGTATGCATGTGTGTGGTGTGTGTGGTGTGTGGTGCGTGTGTCTGG TGTGTGCACTTGTGTGTCCTGTGTGTGTGGTGTATGTGTGTCTGTTGTGT GTGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20752.hp2 HG02486.hp2 NA20752.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0011 a0005c0024t0011	a0005c0024t0011g0160 a0005c0024t0011g0162 a0005c0024t0011g0160 a0005c0024t0011g0162	2	248	0.0081	353	c.967 others(370): Show c.967-3127_967-3126insTCTGATGTGTGTGGTGTGTGCACGTCTG GCATATGTGGTGTGTGTGTGGTGTGTGGGTGTGTGGGCGTGTGTGGTGTG GTGCATGTGTGTATCTGGTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTG TACATATGGTGTGCATGTAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTG CGCTTGTGTGTCCAGTGTGTGTGTATGGTGTATGTGTGTCTGGTATGTGT GGTGTGAGTGTGTGTGGTGTATGTATGCATGTGTGTGGTGTGTGTGGTGT GTGGTGCGTGTGTCTGGTGTGTGCACTTGTGTGTCCTGTGTGTGTGGTGT ATGTGTGTCTGTTGTGTGTGGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137949143	C C	CTGTGTCT others(346): Show CTGTGTCTGATGTGTGTGGTGTGTGCACGTCTGGCATATGTGGTGTGTGT GTGGTGTGTGGGTGTGTGGGTGTGTGTGGTGTGGTGCATGTGTGTATCTG GTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTGTACATATGGTGTGCATG TAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTGCGCTTGTGTGTCCAGTG TGTGTGTATGGTGTATGTGTGTCTGGTATGTGTGGTGTGAGTGTGTGTGG TGTATGTATGCATGTGTGTGGTGTGTGTGGTGTGTGGTGCGTGTGTCTGG TGTGTGCACTTGTGTGTCCTGTGTGTGTGGTGTACGTGTGTCTGTTGTGT GTGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0017 a0001c0048 a0001c0017 a0001c0048	a0001c0017t0006 a0001c0048t0006 a0001c0017t0006 a0001c0048t0006	a0001c0017t0006g0122 a0001c0048t0006g0101 a0001c0017t0006g0122 a0001c0048t0006g0101	2	248	0.0081	353	c.967 others(370): Show c.967-3127_967-3126insTCTGATGTGTGTGGTGTGTGCACGTCTG GCATATGTGGTGTGTGTGTGGTGTGTGGGTGTGTGGGTGTGTGTGGTGTG GTGCATGTGTGTATCTGGTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTG TACATATGGTGTGCATGTAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTG CGCTTGTGTGTCCAGTGTGTGTGTATGGTGTATGTGTGTCTGGTATGTGT GGTGTGAGTGTGTGTGGTGTATGTATGCATGTGTGTGGTGTGTGTGGTGT GTGGTGCGTGTGTCTGGTGTGTGCACTTGTGTGTCCTGTGTGTGTGGTGT ACGTGTGTCTGTTGTGTGTGGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137949143	C C	CTGTGTCT others(346): Show CTGTGTCTGATGTGTGTGGTGTGTGCACGTCTGGCATATGTGGTGTGTGT GTGGTGTGTGGGTGTGTGGGTGTGTGTGGTGTGGTGCATGTGTGTATCTG GTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTGTACATATGGTGTGCATG TAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTGCGCTTGTGTGTCCAGTG TGTGTGTATGGTGTATGTGTGTCTGGTATGTGTGGTGTGAGTGTGTGTGG TGTATGTATGCATGTGTGTGGTGTGTGTGGTGTGTGGTGCGTGTGTCTGG TGTGTGCACTTGTGTGTCCTGTGTGTGTGGTGTATGTGTGTCTGTTGTGT GTGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(235): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022	a0001c0002 a0001c0003 a0001c0005 others(50): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0012 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0022 a0001c0032 a0001c0041 a0001c0044 a0001c0050 a0001c0051 a0001c0053 a0002c0001 a0002c0004 a0002c0008 a0002c0010 a0002c0011 a0002c0020 a0002c0033 a0002c0035 a0002c0056 a0002c0057 a0003c0006 a0004c0023 a0004c0025 a0004c0029 a0004c0043 a0004c0055 a0005c0038 a0005c0039 a0006c0014 a0006c0026 a0007c0016 a0008c0019 a0009c0021 a0010c0040 a0011c0037 a0012c0036 a0013c0034 a0014c0031 a0015c0049 a0016c0030 a0017c0047 a0018c0046 a0019c0045 a0020c0052 a0021c0027 a0022c0028	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(100): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0021 a0001c0002t0030 a0001c0002t0037 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0034 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0005t0004 a0001c0007t0001 a0001c0007t0003 a0001c0009t0003 a0001c0012t0001 a0001c0012t0002 a0001c0012t0004 a0001c0013t0008 a0001c0013t0009 a0001c0013t0014 a0001c0013t0027 a0001c0015t0002 a0001c0015t0009 a0001c0017t0002 a0001c0017t0016 a0001c0018t0003 a0001c0018t0009 a0001c0018t0018 a0001c0022t0002 a0001c0022t0020 a0001c0032t0001 a0001c0041t0001 a0001c0044t0005 a0001c0050t0040 a0001c0051t0007 a0001c0053t0028 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0020 a0002c0001t0029 a0002c0001t0035 a0002c0001t0038 a0002c0001t0041 a0002c0004t0001 a0002c0004t0005 a0002c0004t0007 a0002c0004t0026 a0002c0004t0031 a0002c0008t0001 a0002c0008t0003 a0002c0008t0015 a0002c0008t0018 a0002c0010t0005 a0002c0010t0010 a0002c0010t0012 a0002c0011t0002 a0002c0020t0002 a0002c0033t0001 a0002c0035t0002 a0002c0056t0002 a0002c0057t0003 a0003c0006t0001 a0003c0006t0002 a0003c0006t0008 a0003c0006t0039 a0004c0023t0008 a0004c0023t0042 a0004c0025t0013 a0004c0025t0022 a0004c0029t0036 a0004c0043t0009 a0004c0055t0022 a0005c0038t0023 a0005c0039t0032 a0006c0014t0006 a0006c0026t0006 a0007c0016t0007 a0008c0019t0017 a0008c0019t0025 a0009c0021t0010 a0009c0021t0019 a0010c0040t0002 a0011c0037t0014 a0012c0036t0014 a0013c0034t0008 a0014c0031t0002 a0015c0049t0002 a0016c0030t0003 a0017c0047t0006 a0018c0046t0016 a0019c0045t0007 a0020c0052t0006 a0021c0027t0024 a0022c0028t0021	a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 others(235): Show a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0123 a0001c0002t0001g0186 a0001c0002t0001g0212 a0001c0002t0001g0218 a0001c0002t0001g0238 a0001c0002t0002g0046 a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0073 a0001c0002t0005g0024 a0001c0002t0008g0026 a0001c0002t0008g0053 a0001c0002t0008g0065 a0001c0002t0008g0241 a0001c0002t0011g0052 a0001c0002t0021g0075 a0001c0002t0030g0120 a0001c0002t0037g0242 a0001c0003t0005g0006 a0001c0003t0005g0016 a0001c0003t0005g0021 a0001c0003t0005g0107 a0001c0003t0005g0130 a0001c0003t0006g0112 a0001c0003t0006g0136 a0001c0003t0007g0106 a0001c0003t0007g0111 a0001c0003t0007g0114 a0001c0003t0007g0118 a0001c0003t0010g0131 a0001c0003t0010g0132 a0001c0003t0010g0134 a0001c0003t0010g0135 a0001c0003t0034g0109 a0001c0003t0043g0127 a0001c0003t0044g0011 a0001c0003t0045g0008 a0001c0005t0004g0007 a0001c0005t0004g0028 a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0084 a0001c0005t0004g0085 a0001c0005t0004g0086 a0001c0005t0004g0087 a0001c0005t0004g0088 a0001c0005t0004g0089 a0001c0005t0004g0090 a0001c0005t0004g0091 a0001c0005t0004g0098 a0001c0005t0004g0137 a0001c0005t0004g0184 a0001c0007t0001g0034 a0001c0007t0003g0027 a0001c0007t0003g0037 a0001c0007t0003g0038 a0001c0007t0003g0041 a0001c0007t0003g0043 a0001c0007t0003g0044 a0001c0007t0003g0045 a0001c0007t0003g0047 a0001c0007t0003g0056 a0001c0007t0003g0074 a0001c0007t0003g0225 a0001c0009t0003g0022 a0001c0009t0003g0092 a0001c0009t0003g0093 a0001c0009t0003g0094 a0001c0009t0003g0095 a0001c0009t0003g0096 a0001c0012t0001g0031 a0001c0012t0001g0032 a0001c0012t0001g0051 a0001c0012t0002g0050 a0001c0012t0004g0040 a0001c0013t0008g0066 a0001c0013t0009g0099 a0001c0013t0009g0203 a0001c0013t0014g0158 a0001c0013t0027g0240 a0001c0015t0002g0102 a0001c0015t0009g0080 a0001c0015t0009g0081 a0001c0017t0002g0193 a0001c0017t0016g0119 a0001c0018t0003g0049 a0001c0018t0009g0029 a0001c0018t0018g0033 a0001c0022t0002g0001 a0001c0022t0020g0002 a0001c0032t0001g0071 a0001c0041t0001g0182 a0001c0044t0005g0239 a0001c0050t0040g0129 a0001c0051t0007g0108 a0001c0053t0028g0105 a0002c0001t0001g0036 a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0173 a0002c0001t0001g0180 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0214 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0227 a0002c0001t0001g0234 a0002c0001t0002g0042 a0002c0001t0002g0055 a0002c0001t0002g0157 a0002c0001t0002g0159 a0002c0001t0002g0167 a0002c0001t0002g0178 a0002c0001t0002g0181 a0002c0001t0002g0188 a0002c0001t0002g0190 a0002c0001t0002g0196 a0002c0001t0002g0210 a0002c0001t0002g0211 a0002c0001t0002g0223 a0002c0001t0002g0226 a0002c0001t0002g0228 a0002c0001t0002g0229 a0002c0001t0002g0235 a0002c0001t0003g0023 a0002c0001t0005g0231 a0002c0001t0020g0030 a0002c0001t0029g0189 a0002c0001t0035g0232 a0002c0001t0038g0164 a0002c0001t0041g0177 a0002c0004t0001g0014 a0002c0004t0001g0017 a0002c0004t0001g0018 a0002c0004t0001g0019 a0002c0004t0001g0168 a0002c0004t0001g0175 a0002c0004t0001g0179 a0002c0004t0001g0187 a0002c0004t0001g0201 a0002c0004t0001g0202 a0002c0004t0001g0213 a0002c0004t0005g0133 a0002c0004t0005g0195 a0002c0004t0007g0176 a0002c0004t0026g0207 a0002c0004t0031g0247 a0002c0008t0001g0174 a0002c0008t0003g0059 a0002c0008t0003g0170 a0002c0008t0003g0197 a0002c0008t0003g0198 a0002c0008t0003g0199 a0002c0008t0003g0219 a0002c0008t0015g0169 a0002c0008t0015g0171 a0002c0008t0018g0237 a0002c0010t0005g0183 a0002c0010t0005g0243 a0002c0010t0010g0204 a0002c0010t0012g0215 a0002c0010t0012g0220 a0002c0010t0012g0233 a0002c0011t0002g0172 a0002c0011t0002g0191 a0002c0011t0002g0192 a0002c0011t0002g0194 a0002c0011t0002g0244 a0002c0020t0002g0015 a0002c0020t0002g0200 a0002c0020t0002g0216 a0002c0033t0001g0161 a0002c0035t0002g0185 a0002c0056t0002g0245 a0002c0057t0003g0246 a0003c0006t0001g0147 a0003c0006t0001g0150 a0003c0006t0002g0138 a0003c0006t0002g0139 a0003c0006t0002g0141 a0003c0006t0002g0146 a0003c0006t0002g0151 a0003c0006t0002g0152 a0003c0006t0002g0153 a0003c0006t0002g0154 a0003c0006t0002g0155 a0003c0006t0008g0145 a0003c0006t0039g0148 a0004c0023t0008g0077 a0004c0023t0042g0076 a0004c0025t0013g0217 a0004c0025t0022g0010 a0004c0029t0036g0206 a0004c0043t0009g0078 a0004c0055t0022g0009 a0005c0038t0023g0020 a0005c0039t0032g0079 a0006c0014t0006g0140 a0006c0014t0006g0142 a0006c0014t0006g0143 a0006c0026t0006g0144 a0007c0016t0007g0054 a0007c0016t0007g0062 a0007c0016t0007g0205 a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126 a0009c0021t0010g0004 a0009c0021t0019g0003 a0009c0021t0019g0005 a0010c0040t0002g0230 a0011c0037t0014g0048 a0012c0036t0014g0224 a0013c0034t0008g0236 a0014c0031t0002g0113 a0015c0049t0002g0100 a0016c0030t0003g0097 a0017c0047t0006g0116 a0018c0046t0016g0110 a0019c0045t0007g0117 a0020c0052t0006g0115 a0021c0027t0024g0149 a0022c0028t0021g0156	238	248	0.9597	353	c.967 others(370): Show c.967-3127_967-3126insTCTGATGTGTGTGGTGTGTGCACGTCTG GCATATGTGGTGTGTGTGTGGTGTGTGGGTGTGTGGGTGTGTGTGGTGTG GTGCATGTGTGTATCTGGTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTG TACATATGGTGTGCATGTAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTG CGCTTGTGTGTCCAGTGTGTGTGTATGGTGTATGTGTGTCTGGTATGTGT GGTGTGAGTGTGTGTGGTGTATGTATGCATGTGTGTGGTGTGTGTGGTGT GTGGTGCGTGTGTCTGGTGTGTGCACTTGTGTGTCCTGTGTGTGTGGTGT ATGTGTGTCTGTTGTGTGTGGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137949143	C C	CTGTGTCT others(346): Show CTGTGTCTGATGTGTGTGGTGTGTGCACGTCTGGCATATGTGGTGTGTGT GTGGTGTGTGGGTGTGTGGGTGTGTGTGGTGTGGTGCATGTGTGTATCTG GTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTGTACATATGGTGTGCATG TAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTGCGCTTGTGTGTCCAGTG TGTGTGTATGGTGTGTGTGTGTCTGGTATGTGTGGTGTGAGTGTGTGTGG TGTATGTATGCATGTGTGTGGTGTGTGTGGTGTGTGGTGCGTGTGTCTGG TGTGTGCACTTGTGTGTCCTGTGTGTGTGGTGTATGTGTGTCTGTTGTGT GTGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03098.hp1 HG02451.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0012 a0001c0002t0013g0128 a0001c0002t0013g0012 a0001c0002t0013g0128	2	248	0.0081	353	c.967 others(370): Show c.967-3127_967-3126insTCTGATGTGTGTGGTGTGTGCACGTCTG GCATATGTGGTGTGTGTGTGGTGTGTGGGTGTGTGGGTGTGTGTGGTGTG GTGCATGTGTGTATCTGGTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTG TACATATGGTGTGCATGTAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTG CGCTTGTGTGTCCAGTGTGTGTGTATGGTGTGTGTGTGTCTGGTATGTGT GGTGTGAGTGTGTGTGGTGTATGTATGCATGTGTGTGGTGTGTGTGGTGT GTGGTGCGTGTGTCTGGTGTGTGCACTTGTGTGTCCTGTGTGTGTGGTGT ATGTGTGTCTGTTGTGTGTGGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137949143	C C	CTGTGTCT others(346): Show CTGTGTCTGATGTGTGTGGTGTGTGCACGTCTGGCATATGTGGTGTGTGT GTGGTGTGTGGGTGTGTGGGTGTGTGTGGTGTGGTGCATGTGTGTATCTG GTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTGTACATATGGTGTGCATG TAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTGTGCTTGTGTGTCCAGTG TGTGTGTATGGTGTATGTGTGTCTGGTATGTGTGGTGTGAGTGTGTGTGG TGTATGTATGCATGTGTGTGGTGTGTGTGGTGTGTGGTGCGTGTGTCTGG TGTGTGCACTTGTGTGTCCTGTGTGTGTGGTGTATGTGTGTCTGTTGTGT GTGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp1 HG03486.hp1 NA18906.hp1	a0004 a0004	a0004c0042 a0004c0054 a0004c0042 a0004c0054	a0004c0042t0008 a0004c0054t0008 a0004c0042t0008 a0004c0054t0008	a0004c0042t0008g0121 a0004c0054t0008g0013 a0004c0042t0008g0121 a0004c0054t0008g0013	2	248	0.0081	353	c.967 others(370): Show c.967-3127_967-3126insTCTGATGTGTGTGGTGTGTGCACGTCTG GCATATGTGGTGTGTGTGTGGTGTGTGGGTGTGTGGGTGTGTGTGGTGTG GTGCATGTGTGTATCTGGTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTG TACATATGGTGTGCATGTAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTG TGCTTGTGTGTCCAGTGTGTGTGTATGGTGTATGTGTGTCTGGTATGTGT GGTGTGAGTGTGTGTGGTGTATGTATGCATGTGTGTGGTGTGTGTGGTGT GTGGTGCGTGTGTCTGGTGTGTGCACTTGTGTGTCCTGTGTGTGTGGTGT ATGTGTGTCTGTTGTGTGTGGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(346): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG01884.hp1 HG02055.hp2	a0002 a0054 a0002 a0054	a0002c0002 a0054c0074 a0002c0002 a0054c0074	a0002c0002t0001 a0054c0074t0001 a0002c0002t0001 a0054c0074t0001	a0002c0002t0001g0284 a0054c0074t0001g0283 a0002c0002t0001g0284 a0054c0074t0001g0283	2	338	0.0059	353	c.300 others(370): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(346): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19010.hp2 HG01081.hp2 NA19010.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0025 a0002c0002t0001 a0003c0003t0025	a0002c0002t0001g0069 a0003c0003t0025g0052 a0002c0002t0001g0069 a0003c0003t0025g0052	2	328	0.0061	353	c.100 others(372): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CALN1_chr7_71774491_72417338	72033571	T T	TAAAAGAG others(346): Show TAAAAGAGGGAAGGATGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTCCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	142	0.0070	353	c.389 others(370): Show c.389-9803_389-9802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGGAATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACC GCGCCCGGCCATCCTTCCCTCTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CAMKK1_chr17_3855315_3898053	3868210	C C	CACGGGGG others(346): Show CACGGGGGAGATGCAGGCCCGTCTAACTGATACGTGGGCTCTGGGGGAGA AGCAGGCGCCGTCTAACTGATACGTGGGCACGGGGGAGATGCAGGCACCG TCTAACTGATACGCGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGAT ACGTGGGCTCTGGGGGAGACGCAGGCCCGTCTAACTGATACGCGGGATCT GGGGGAGACGCAGGCCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGC AGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGACGCAGGCCCGTCT AACTGATACGTGGGCTCTGGGGGAGACGCAGGCCCGTCTAACTGATACGC GGGA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA19002.hp1 NA18961.hp2 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0132 a0001c0002t0002g0042 a0001c0002t0002g0132	2	446	0.0045	353	c.134 others(372): Show c.1341+1276_1341+1277insTCCCGCGTATCAGTTAGACGGGCCTG CGTCTCCCCCAGAGCCCACGTATCAGTTAGACGGGCCTGCGTCTCCCCCA GAGCCCACGTATCAGTTAGACGGCGCCTGCTTCTCCCCCAGAGCCCACGT ATCAGTTAGACGGGCCTGCGTCTCCCCCAGATCCCGCGTATCAGTTAGAC GGGCCTGCGTCTCCCCCAGAGCCCACGTATCAGTTAGACGGCGCCTGCTT CTCCCCCAGAGCCCGCGTATCAGTTAGACGGTGCCTGCATCTCCCCCGTG CCCACGTATCAGTTAGACGGCGCCTGCTTCTCCCCCAGAGCCCACGTATC AGTTAGACGGGCCTGCATCTCCCCCGT	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK2_chr12_121232692_121301709	121255330	T T	TTATATAT others(346): Show TTATATATATTATATAATTTTATATATATAATTATATATATTATATAATT ATATATATAATTTTATATATATATAATTATATATACAATTTTATAATATA TATAATTATATATACAATTATATATATATATAATTATATATATAATTATA TATATAATTGTATATATAATTTTATATATATATAATTATATATATAATTA TATATATATAATTATATATATTTATATATATATATAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAATTATATATATA ATTTTATATATATAATTTTATATAATTTTATATATAATTATATATATAAT TTTA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0019 a0004c0005t0002g0019	1	330	0.0030	353	c.907 others(368): Show c.907+219_907+220insTAAAATTATATATATAATTATATATAAAAT TATATAAAATTATATATATAAAATTATATATATAATTATATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTATATATATATA TAAATATATATAATTATATATATATAATTATATATATAATTATATATATA TAAAATTATATATACAATTATATATATAATTATATATATAATTATATATA TATATAATTGTATATATAATTATATATATTATAAAATTGTATATATAATT ATATATATATAAAATTATATATATAATTATATAATATATATAATTATATA TATAAAATTATATAATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC163_chr1_45488866_45505073	45497707	G G	GGGGGGGG others(346): Show GGGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCAGGGAGGGAGG TGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGG AAGT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	408	0.0025	353	c.178 others(368): Show c.178-325_178-324insACTTCCCTCCCGGACTGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCTGACGGGGCGGCTGGC CTGGCGGGGGGCTGACCCCCCCC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCDC163_chr1_45488866_45505073	45497762	T T	TGTCAGCC others(346): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCAGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGG GGGGGTCAGCCCCCCGCCAGGCCAGCCTCCCCGTCTGGGAGGGAGGTGGG GGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18978.hp2 NA18988.hp2 HG00597.hp2 NA18978.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0111 a0001c0001t0003g0036 a0001c0001t0003g0111	3	408	0.0074	353	c.178 others(368): Show c.178-380_178-379insCCCCCCCACCTCCCTCCCAGACGGGGAGGC TGGCCTGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGACTGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCTGATGGGGC GGCTGGCCGGGCGGGGGGCTGAC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCDC163_chr1_45488866_45505073	45497762	T T	TGTCAGCC others(346): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGT GGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCTGGGAGGGAGGTG GGGG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	408	0.0025	353	c.178 others(368): Show c.178-380_178-379insCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCTGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGACTGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGAC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCDC163_chr1_45488866_45505073	45497762	T T	TGTCAGCC others(346): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGG GGGGGTCAGCCCCCCGCCAGGCCAGCCTCCCCGTCTGGGAGGGAGGTGGG GGGG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG04199.hp2 others(1): Show HG01515.hp1 HG01517.hp1 HG04199.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0102 a0001c0001t0003g0106 a0001c0001t0003g0033 a0001c0001t0003g0102 a0001c0001t0003g0106	4	408	0.0098	353	c.178 others(368): Show c.178-380_178-379insCCCCCCCACCTCCCTCCCAGACGGGGAGGC TGGCCTGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGACTGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGAC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCDC163_chr1_45488866_45505073	45497762	T T	TGTCAGCC others(346): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGG GGGGGTCAGCCCCCCGCCAGGCCAGCCTCCCCGTCTGGGAGGGAGGTGGG GGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(48): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp2 HG01433.hp2 HG01891.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp2 HG02818.hp2 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03225.hp1 HG03490.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 NA18962.hp2 NA18966.hp2 NA19005.hp1 NA19030.hp2 NA19076.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0020 a0001c0001t0003 a0001c0001t0012 a0001c0001t0020	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0016 others(10): Show a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0012g0104 a0001c0001t0012g0109 a0001c0001t0020g0105	51	408	0.1250	353	c.178 others(368): Show c.178-380_178-379insCCCCCCCACCTCCCTCCCAGACGGGGAGGC TGGCCTGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGACTGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGAC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCDC163_chr1_45488866_45505073	45497762	T T	TGTCAGCC others(346): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCTCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGG GGGGGTCAGCCCCCCGCCAGGCCAGCCTCCCCGTCTGGGAGGGAGGTGGG GGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18959.hp1 HG00544.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0025 a0001c0001t0010g0025	2	408	0.0049	353	c.178 others(368): Show c.178-380_178-379insCCCCCCCACCTCCCTCCCAGACGGGGAGGC TGGCCTGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGACTGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGAGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGAC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCDC163_chr1_45488866_45505073	45497773	C C	CGCCCGGC others(346): Show CGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCC CCCCGCCAGGCCAGCCTCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCC CCCG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	408	0.0025	353	c.178 others(368): Show c.178-391_178-390insCGGGGGCTGACCCCCCCCACCTCCCTCCCA GACGGGGAGGCTGGCCTGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGG ACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGATGGGGCGGCTGGCCGGGC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCDC87_chr11_66585176_66598063	66587927	C C	CGTCCGGG others(346): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCAGCCCGGCCAGCCACCCCATCTGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGGTGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGT CGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCAGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCTGCCAGCCG CCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 NA19030.hp2 NA19240.hp2 HG01255.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	386	0.0078	353	c.25 others(364): Show c.2538_*2539insTGGGCGGCTGGCAGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCAGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCACCCCCTCACCTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGTGGC TGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GTGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGAC	CCDC87	ENSG00000182791.5	transcript	ENST00000333861.5	protein_coding		2248		chr11	TogoVar
CDK19_chr6_110604978_110820469	110666104	C C	CAAAGAAT others(346): Show CAAAGAATCTTACAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGATTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	300	0.0033	353	c.456 others(370): Show c.456+1329_456+1330insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAATCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCAACTGTAAGATTCTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	4/12			chr6	TogoVar
CENPH_chr5_69184583_69215357	69204022	T T	TATATAAA others(346): Show TATATAAATATATATAATATATAAATATATATAATTTCTATATATATTAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATAGA ATATATATATATAGAATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02523.hp1 HG02148.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0151 a0001c0001t0001g0158	2	388	0.0052	353	c.487 others(370): Show c.487+1052_487+1053insATATAAATATATATAATATATAAATATA TATAATTTCTATATATATTATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATAGAATATATATATATAGAATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAA	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(346): Show ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	388	0.0026	353	c.487 others(370): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPU_chr4_184689085_184739096	184730507	T T	TAAAGAAA others(346): Show TAAAGAAATGCACATGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0274 a0003c0003t0003g0274	1	358	0.0028	353	c.96+ others(366): Show c.96+412_96+413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCGCATGTGCATTTCTTT	CENPU	ENSG00000151725.12	transcript	ENST00000281453.10	protein_coding	2/12			chr4	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(346): Show AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATA AAAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	402	0.0025	353	c.80- others(368): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CLASRP_chr19_45034045_45075956	45038561	T T	TAAAAAAT others(346): Show TAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG04115.hp2 HG02257.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0039 a0001c0001t0001g0056	2	364	0.0055	353	c.-57 others(362): Show c.-577_-576insAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding		483		chr19	TogoVar
CNOT6_chr5_180489379_180583358	180552970	A A	ATCATTTC others(346): Show ATCATTTCCACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACT CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0043 a0001c0002t0004g0043	1	334	0.0030	353	c.300 others(368): Show c.300-400_300-399insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCTCATTTCCACTTTCTT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
COL18A1_chr21_45400165_45518720	45431488	A A	AGGGGGGC others(346): Show AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG GGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00621.hp1 others(16): Show HG00280.hp1 HG00423.hp2 HG00621.hp1 HG01192.hp1 HG01257.hp1 HG01361.hp1 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02071.hp1 HG02273.hp1 HG03688.hp1 HG04115.hp1 NA18959.hp1 NA18983.hp2 NA19007.hp1 NA19065.hp1 NA20300.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0017 a0001c0061 a0001c0081 a0021c0086	a0001c0001t0001 a0001c0002t0002 a0001c0005t0002 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0005t0002 a0001c0006t0003 a0001c0008t0002 a0001c0017t0003 a0001c0061t0001 a0001c0081t0003 a0021c0086t0002	a0001c0001t0001g0187 a0001c0001t0001g0246 a0001c0001t0001g0258 others(16): Show a0001c0001t0001g0187 a0001c0001t0001g0246 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0002t0002g0060 a0001c0002t0002g0094 a0001c0005t0002g0070 a0001c0006t0003g0177 a0001c0006t0003g0204 a0001c0006t0003g0215 a0001c0006t0003g0259 a0001c0006t0003g0291 a0001c0008t0002g0260 a0001c0008t0002g0270 a0001c0008t0002g0272 a0001c0017t0003g0205 a0001c0061t0001g0257 a0001c0081t0003g0154 a0021c0086t0002g0176	19	292	0.0651	353	c.106 others(372): Show c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC AGGACCCGGCGGCCCAGGGGAGGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45999924	T T	TGTGAGGA others(346): Show TGTGAGGATCATGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGG ATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGG GGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGA CATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAG GATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGATCATGGGA AGACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAG GATCATGGGGGGACCCGTGAGGGTCATGGGGGGACGTGAGGATTGGGGGG ACCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0117 a0002c0002t0008g0117	1	128	0.0078	353	c.177 others(370): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGAT CATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGAC GTGTGAGGATCATGGGGGGACCCGTGAGGGTCATGGGGGGACGTGAGGAT TGGGGGGACCCGTGAGGATCATGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL9A1_chr6_70211126_70308084	70249172	T T	TCCACTGA others(346): Show TCCACTGAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0061 a0003c0003t0001g0061	1	362	0.0028	353	c.187 others(372): Show c.1872+2947_1872+2948insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAATCTTCAGTGG	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	28/37			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(346): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACC CATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCC CCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0005 a0001c0008t0001g0005	1	348	0.0029	353	c.13 others(364): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCC ACCCATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCAT CTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(346): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACC CATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCC CCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	348	0.0029	353	c.13 others(364): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCC ACCCATCCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCAT CTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(346): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCATCCACCCATTCCCCCACCCACCCATCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACC CATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCC CCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	348	0.0029	353	c.13 others(364): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATTCCCCCACCC ACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCC ACCCATCCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCAT CTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CRLF2_chrX_1185490_1217649	1198175	T T	TCCCACCT others(346): Show TCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGG CAGGACACCCTCCCTCCCACTCCCAGGAAGGCAGGACACCCTCCCCTCCC ACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCCTCCCAGGAAGGCAG GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCTCCCTCC CACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGGAAGGCAGGAC ACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACACCTCCCC AGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGGGCAGGACACCCTCCC CTCC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0010 a0010	a0010c0033 a0010c0033	a0010c0033t0001 a0010c0033t0001	a0010c0033t0001g0131 a0010c0033t0001g0131	1	167	0.0060	353	c.646 others(368): Show c.646+386_646+387insGGAGGGGAGGGTGTCCTGCCCTTCTAGGTG GGAGGGAGGGTGTCCTGCCTTCCTGGGGAGGTGTGGGAGGGAGGGTGTCC TGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCCTGGGAGGTGGGAG GGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGAGGGTGTCCTGCCTTCC TGGGAGGTGGGAGGGAGGGTGTCCCTGCCTTCCTGGGAGGGTGGGAGGGA GGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGGAGGGTGTCCTGCCTTCCT GGGAGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGT GTCCTGCCTTCCTGGGAGGTGGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CRYBB2_chr22_25214639_25236869	25235715	T T	TGAAAATG others(346): Show TGAAAATGGGAAACTTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	464	0.0022	353	c.39 others(364): Show c.3943_*3944insGAAAATGGGAAACTTGGAGGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGA GGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		3847		chr22	TogoVar
CSF2RA_chrX_1263814_1314935	1278059	C C	CGCAGTGG others(346): Show CGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCGAGGCAGGT GGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTCGCCAACATGGTGAAA CCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCGTGC CTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGTAGAATTGCTTCAACTTG GGAGACGGAGGTTGCAGTGAGCCAAGATGGCACCACTGCACTCCAGCCTG GGCGACAGAATGAGACTCAGTCTCAAAAAAACAAAAGATTTCAGGGCGAG CAAGTTTATTATGAAAGTAAAGTAGTGGAAGACTAGCTACTCCAGAGGCC AGGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01884.hp2 HG02145.hp1 others(10): Show HG01070.hp1 HG01884.hp2 HG02145.hp1 HG02559.hp1 HG02622.hp2 HG02809.hp1 HG02897.hp1 HG02976.hp2 HG03139.hp1 HG03516.hp1 NA18906.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0001c0007 others(4): Show a0001c0001 a0001c0005 a0001c0007 a0002c0003 a0002c0006 a0002c0019 a0004c0010	a0001c0001t0002 a0001c0001t0013 a0001c0005t0005 others(7): Show a0001c0001t0002 a0001c0001t0013 a0001c0005t0005 a0001c0007t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0006t0003 a0002c0019t0002 a0004c0010t0006	a0001c0001t0002g0105 a0001c0001t0013g0004 a0001c0005t0005g0009 others(10): Show a0001c0001t0002g0105 a0001c0001t0013g0004 a0001c0005t0005g0009 a0001c0005t0005g0136 a0001c0007t0001g0106 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0002g0005 a0002c0003t0002g0030 a0002c0003t0005g0010 a0002c0006t0003g0156 a0002c0019t0002g0006 a0004c0010t0006g0033	13	159	0.0818	353	c.-27 others(370): Show c.-27+3310_-27+3662dupGTTCGAGACCAGCCTCGCCAACATGGTG AAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCG TGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGTAGAATTGCTTCAAC TTGGGAGACGGAGGTTGCAGTGAGCCAAGATGGCACCACTGCACTCCAGC CTGGGCGACAGAATGAGACTCAGTCTCAAAAAAACAAAAGATTTCAGGGC GAGCAAGTTTATTATGAAAGTAAAGTAGTGGAAGACTAGCTACTCCAGAG GCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCGAG GCAGGTGGATCACCTGAGGTCAGGA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1278309	G G	TGCGACAG others(346): Show TGCGACAGAATGAGACTCAGTCTCAAAAAAACAAAAGATTTCAGGGTGAG CAAGTTTATTATGAAAGTAAAGTAGTGGAAGACTAGCTACTCCAGAGGCC AGGCGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCGAGGCA GGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTCGCCAACATGGTG AAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCG TGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGTAGAATTGCTTCAAC TTGGGAGACGGAGGTTGCAGTGAGCCAAGATGGCACCACTGCACTCCAGC CTGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01106.hp1 others(23): Show HG00639.hp2 HG01070.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01346.hp2 HG01934.hp1 HG01993.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG03491.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 NA18969.hp1 NA18980.hp1 NA18980.hp2 NA19005.hp1 NA19010.hp1 NA19064.hp1 NA19080.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006	a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0056 others(23): Show a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0002g0051 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0113 a0001c0001t0003g0124 a0001c0001t0004g0049 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0002t0001g0052 a0001c0002t0003g0035 a0001c0002t0003g0059 a0001c0002t0003g0122 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0042 a0001c0002t0004g0050 a0001c0002t0004g0058 a0001c0002t0005g0040 a0001c0002t0005g0123 a0001c0002t0006g0039	26	159	0.1635	353	c.-27 others(370): Show c.-27+3490_-27+3491insTGCGACAGAATGAGACTCAGTCTCAAAA AAACAAAAGATTTCAGGGTGAGCAAGTTTATTATGAAAGTAAAGTAGTGG AAGACTAGCTACTCCAGAGGCCAGGCGCAGTGGCTCATGCCTATAATCCC AGCACTTTGGGAGCCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGA GACCAGCCTCGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAA ATTAGCCAGGCATGGTGGTGCGTGCCTGTAGTCCCAGCTACTTGGAGGCT GAGGCAGTAGAATTGCTTCAACTTGGGAGACGGAGGTTGCAGTGAGCCAA GATGGCACCACTGCACTCCAGCCTG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12			chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1278496	C C	CGCCAACA others(346): Show CGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAG GCATGGTGGTGCGTGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGTA GAATTGCTTCAACTTGGGAGACGGAGGTTGCAGTGAGCCAAGATGGCACC ACTGCACTCCAGCCTGGGCGACAGAATGAGACTCAGTCTCAAAAAAACAA AAGATTTCAGGGCGAGCAAGTTTATTATGAAAGTAAAGTAGTGGAAGACT AGCTACTCCAGAGGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACT TTGGGAGCCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAG CCTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02273.hp1 HG00597.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0002g0099 a0001c0001t0001g0101 a0001c0001t0002g0099	2	159	0.0126	353	c.-27 others(370): Show c.-27+3729_-27+3730insATGGTGGTGCGTGCCTGTAGTCCCAGCT ACTTGGAGGCTGAGGCAGTAGAATTGCTTCAACTTGGGAGACGGAGGTTG CAGTGAGCCAAGATGGCACCACTGCACTCCAGCCTGGGCGACAGAATGAG ACTCAGTCTCAAAAAAACAAAAGATTTCAGGGCGAGCAAGTTTATTATGA AAGTAAAGTAGTGGAAGACTAGCTACTCCAGAGGCCAGGTGCAGTGGCTC ATGCCTATAATCCCAGCACTTTGGGAGCCCGAGGCAGGTGGATCACCTGA GGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTA CTAAAAATACAAAAATTAGCCAGGC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	3324109	C C	CCCACCAT others(346): Show CCCACCATTCATCACTGTTAAAACAGACACACATCCAACCTCAGAGACCC AGGAGGGGGAGTTTCCTTCACCCCACCATTCATCACTGTTAAAATAGACA CACATCCAACCTCAGAGACCCAGGAGGGGGAGTTTCCTTCACCCCACCAT TCATCACTGTTAAAATAGAACCACACCCAACCTCAGAGACCCAGGAGGGG AGTTTCCTTCACCCCACCATTCATCACTGTTAAAATAGACACACATCCAA CCTCAGAGACCCAGGAGGGGGAGTTTCCTACAACCACCTTTCATCACTGT TAAAACAGACACACATCTAACCCCCAGAGACCCAGGAGGGGGAGTTTCCT ACAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp1 others(14): Show HG00099.hp1 HG00423.hp2 HG00438.hp1 HG01243.hp2 HG01934.hp2 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG03017.hp2 HG03834.hp2 HG04204.hp1 NA18971.hp2 NA18983.hp1 NA19060.hp1 NA19060.hp2 NA19074.hp2 NA19090.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0023 a0028 a0034 a0035 a0036	a0001c0007 a0001c0040 a0001c0061 others(13): Show a0001c0007 a0001c0040 a0001c0061 a0001c0090 a0001c0094 a0001c0103 a0002c0048 a0002c0089 a0002c0091 a0002c0092 a0004c0099 a0023c0095 a0028c0097 a0034c0055 a0035c0098 a0036c0100	a0001c0007t0001 a0001c0007t0032 a0001c0040t0019 others(14): Show a0001c0007t0001 a0001c0007t0032 a0001c0040t0019 a0001c0061t0001 a0001c0090t0001 a0001c0094t0002 a0001c0103t0033 a0002c0048t0013 a0002c0089t0001 a0002c0091t0002 a0002c0092t0001 a0004c0099t0014 a0023c0095t0002 a0028c0097t0018 a0034c0055t0034 a0035c0098t0025 a0036c0100t0017	a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0040t0019g0123 others(14): Show a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0040t0019g0123 a0001c0061t0001g0021 a0001c0090t0001g0027 a0001c0094t0002g0110 a0001c0103t0033g0028 a0002c0048t0013g0015 a0002c0089t0001g0037 a0002c0091t0002g0114 a0002c0092t0001g0011 a0004c0099t0014g0020 a0023c0095t0002g0124 a0028c0097t0018g0089 a0034c0055t0034g0047 a0035c0098t0025g0019 a0036c0100t0017g0121	17	126	0.1349	353	c.363 others(374): Show c.3632-15607_3632-15606insTTGTAGGAAACTCCCCCTCCTGGG TCTCTGGGGGTTAGATGTGTGTCTGTTTTAACAGTGATGAAAGGTGGTTG TAGGAAACTCCCCCTCCTGGGTCTCTGAGGTTGGATGTGTGTCTATTTTA ACAGTGATGAATGGTGGGGTGAAGGAAACTCCCCTCCTGGGTCTCTGAGG TTGGGTGTGGTTCTATTTTAACAGTGATGAATGGTGGGGTGAAGGAAACT CCCCCTCCTGGGTCTCTGAGGTTGGATGTGTGTCTATTTTAACAGTGATG AATGGTGGGGTGAAGGAAACTCCCCCTCCTGGGTCTCTGAGGTTGGATGT GTGTCTGTTTTAACAGTGATGAATGGTGG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69			chr8	TogoVar

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