Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ATXN2L_chr16_28817999_28842232	28823252	CTGCCATC others(5): Show CTGCCATCATGTT	C C	start_lost others(1): Show start_lost conservative_inframe_deletion	HIGH	NA18956.hp2 NA18956.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0009 a0011c0028t0009	a0011c0028t0009g0062 a0011c0028t0009g0062	1	380	0.0026	-12	c.-7_ others(16): Show c.-7_5delTGCCATCATGTT	p.Met others(9): Show p.Met1_Leu2del	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	1/22	255/4456	1/3228	1/1075		chr16	TogoVar
AXDND1_chr1_179360971_179559735	179534890	AAAG AAAG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(106): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp1 HG02523.hp2 HG02602.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG03017.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0002 a0004 a0005 others(5): Show a0002 a0004 a0005 a0015 a0017 a0018 a0020 a0023	a0002c0001 a0002c0019 a0002c0020 others(9): Show a0002c0001 a0002c0019 a0002c0020 a0002c0022 a0002c0023 a0004c0005 a0005c0008 a0015c0031 a0017c0028 a0018c0026 a0020c0030 a0023c0027	a0002c0001t0001 a0002c0019t0001 a0002c0020t0001 others(9): Show a0002c0001t0001 a0002c0019t0001 a0002c0020t0001 a0002c0022t0001 a0002c0023t0001 a0004c0005t0001 a0005c0008t0001 a0015c0031t0001 a0017c0028t0001 a0018c0026t0001 a0020c0030t0001 a0023c0027t0001	a0002c0001t0001g0002 a0002c0001t0001g0006 a0002c0001t0001g0105 others(105): Show a0002c0001t0001g0002 a0002c0001t0001g0006 a0002c0001t0001g0105 a0002c0001t0001g0133 a0002c0001t0001g0156 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0216 a0002c0001t0001g0217 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0248 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0257 a0002c0001t0001g0258 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0291 a0002c0001t0001g0292 a0002c0001t0001g0310 a0002c0001t0001g0311 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0322 a0002c0001t0001g0323 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0001g0333 a0002c0001t0001g0336 a0002c0001t0001g0337 a0002c0001t0001g0338 a0002c0001t0001g0339 a0002c0001t0001g0340 a0002c0001t0001g0341 a0002c0001t0001g0342 a0002c0001t0001g0343 a0002c0001t0001g0344 a0002c0001t0001g0345 a0002c0001t0001g0347 a0002c0019t0001g0046 a0002c0019t0001g0112 a0002c0020t0001g0318 a0002c0020t0001g0319 a0002c0022t0001g0063 a0002c0022t0001g0283 a0002c0023t0001g0184 a0002c0023t0001g0186 a0004c0005t0001g0296 a0004c0005t0001g0297 a0004c0005t0001g0298 a0004c0005t0001g0299 a0004c0005t0001g0300 a0004c0005t0001g0301 a0004c0005t0001g0302 a0004c0005t0001g0303 a0004c0005t0001g0304 a0004c0005t0001g0305 a0004c0005t0001g0306 a0004c0005t0001g0307 a0004c0005t0001g0308 a0005c0008t0001g0335 a0005c0008t0001g0348 a0005c0008t0001g0349 a0005c0008t0001g0350 a0005c0008t0001g0351 a0005c0008t0001g0352 a0005c0008t0001g0353 a0005c0008t0001g0354 a0015c0031t0001g0014 a0017c0028t0001g0188 a0018c0026t0001g0346 a0020c0030t0001g0181 a0023c0027t0001g0334	109	354	0.3079	-3	c.297 others(12): Show c.2971_2973delGAA	p.Glu others(6): Show p.Glu991del	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	25/26	3107/3391	2971/3039	991/1012	INFO_REALIGN_3_PRIME	chr1	TogoVar
AZU1_chr19_822837_837018	830938	CAATGTGA others(12): Show CAATGTGAGTGCTCCCTGTG	C C	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01192.hp2 HG01192.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0049 a0005c0014t0001g0049	1	390	0.0026	-19	c.592 others(29): Show c.592_594+16delAATGTGAGTGCTCCCTGTG	p.Asn others(6): Show p.Asn198del	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	4/5	602/907	592/756	198/251		chr19	TogoVar
B4GALNT4_chr11_364499_387117	373494	TCCCAGGT others(8): Show TCCCAGGTGTCCAAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03490.hp2 HG03490.hp2	a0020 a0020	a0020c0032 a0020c0032	a0020c0032t0001 a0020c0032t0001	a0020c0032t0001g0147 a0020c0032t0001g0147	1	182	0.0055	-15	c.685 others(22): Show c.685_699delCAGGTGTCCAAGCCC	p.Gln others(13): Show p.Gln229_Pro233del	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	7/20	990/3750	685/3120	229/1039	INFO_REALIGN_3_PRIME	chr11	TogoVar
BAG1_chr9_33247471_33269708	33264401	ACTC ACTC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01109.hp1 HG01884.hp1 HG06807.hp2 others(3): Show HG01109.hp1 HG01884.hp1 HG06807.hp2 NA18906.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0016 a0001c0001t0008 a0001c0001t0016	a0001c0001t0008g0018 a0001c0001t0008g0054 a0001c0001t0016g0027 a0001c0001t0008g0018 a0001c0001t0008g0054 a0001c0001t0016g0027	6	346	0.0173	-3	c.271 others(10): Show c.271_273delGAG	p.Glu others(5): Show p.Glu91del	BAG1	ENSG00000107262.26	transcript	ENST00000634734.3	protein_coding	1/7	307/3820	271/1038	91/345		chr9	TogoVar
BARD1_chr2_214720646_214814683	214780778	GTGGTGAA others(14): Show GTGGTGAAGAACATTCAGGCAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00609.hp2 HG00621.hp2 HG00735.hp2 others(23): Show HG00609.hp2 HG00621.hp2 HG00735.hp2 HG01255.hp2 HG01361.hp2 HG01981.hp1 HG02155.hp2 HG02300.hp2 HG02451.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18943.hp1 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18970.hp1 NA18972.hp2 NA18981.hp2 NA18986.hp2 NA19004.hp2 NA19062.hp2 NA19076.hp2	a0003 a0014 a0003 a0014	a0003c0005 a0003c0024 a0014c0016 a0003c0005 a0003c0024 a0014c0016	a0003c0005t0005 a0003c0005t0006 a0003c0005t0034 others(7): Show a0003c0005t0005 a0003c0005t0006 a0003c0005t0034 a0003c0005t0035 a0003c0005t0042 a0003c0005t0056 a0003c0005t0065 a0003c0024t0006 a0014c0016t0005 a0014c0016t0029	a0003c0005t0005g0106 a0003c0005t0006g0021 a0003c0005t0006g0022 others(21): Show a0003c0005t0005g0106 a0003c0005t0006g0021 a0003c0005t0006g0022 a0003c0005t0006g0234 a0003c0005t0006g0235 a0003c0005t0006g0236 a0003c0005t0006g0240 a0003c0005t0006g0241 a0003c0005t0006g0242 a0003c0005t0006g0243 a0003c0005t0006g0244 a0003c0005t0006g0246 a0003c0005t0006g0248 a0003c0005t0006g0263 a0003c0005t0006g0264 a0003c0005t0034g0245 a0003c0005t0035g0247 a0003c0005t0035g0249 a0003c0005t0042g0032 a0003c0005t0056g0237 a0003c0005t0065g0238 a0003c0024t0006g0239 a0014c0016t0005g0195 a0014c0016t0029g0154	26	360	0.0722	-21	c.107 others(30): Show c.1075_1095delTTGCCTGAATGTTCTTCACCA	p.Leu others(13): Show p.Leu359_Pro365del	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	4/11	1209/5478	1075/2334	359/777		chr2	TogoVar
BIK_chr22_43105750_43134712	43129228	GTGCTGCT others(23): Show GTGCTGCTGGCGCTGCTGCTGCTGCTGGCGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	384	0.0026	-30	c.415 others(37): Show c.415_444delGCGCTGCTGCTGCTGCTGGCGCTGCTGCTG	p.Ala others(13): Show p.Ala139_Leu148del	BIK	ENSG00000100290.3	transcript	ENST00000216115.3	protein_coding	5/5	476/951	415/483	139/160	INFO_REALIGN_3_PRIME	chr22	TogoVar
BTBD2_chr19_1980448_2020714	2015541	GGGC GGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(119): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18990.hp2 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp1 NA19090.hp1 NA19091.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 others(7): Show a0001c0001 a0001c0003 a0001c0011 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0001t0022 a0001c0001t0024 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0009 a0001c0003t0011 a0001c0003t0012 a0001c0011t0001 a0001c0035t0001 a0001c0036t0002 a0001c0037t0001 a0001c0038t0009 a0001c0039t0001 a0001c0040t0002 a0001c0041t0001	a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0225 others(117): Show a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0215 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0311 a0001c0001t0002g0324 a0001c0001t0010g0216 a0001c0001t0010g0301 a0001c0001t0015g0237 a0001c0001t0022g0246 a0001c0001t0024g0289 a0001c0003t0001g0224 a0001c0003t0001g0226 a0001c0003t0001g0228 a0001c0003t0001g0229 a0001c0003t0001g0235 a0001c0003t0001g0238 a0001c0003t0001g0271 a0001c0003t0001g0272 a0001c0003t0001g0298 a0001c0003t0001g0300 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0312 a0001c0003t0001g0315 a0001c0003t0001g0318 a0001c0003t0001g0319 a0001c0003t0001g0322 a0001c0003t0001g0332 a0001c0003t0002g0214 a0001c0003t0002g0252 a0001c0003t0002g0277 a0001c0003t0002g0283 a0001c0003t0002g0288 a0001c0003t0002g0303 a0001c0003t0002g0304 a0001c0003t0002g0305 a0001c0003t0002g0309 a0001c0003t0002g0310 a0001c0003t0002g0313 a0001c0003t0002g0316 a0001c0003t0002g0320 a0001c0003t0002g0321 a0001c0003t0002g0323 a0001c0003t0002g0325 a0001c0003t0002g0328 a0001c0003t0004g0253 a0001c0003t0006g0243 a0001c0003t0006g0244 a0001c0003t0009g0296 a0001c0003t0011g0219 a0001c0003t0012g0295 a0001c0011t0001g0217 a0001c0011t0001g0221 a0001c0011t0001g0233 a0001c0011t0001g0249 a0001c0011t0001g0260 a0001c0011t0001g0265 a0001c0011t0001g0268 a0001c0011t0001g0314 a0001c0011t0001g0317 a0001c0035t0001g0331 a0001c0036t0002g0308 a0001c0037t0001g0302 a0001c0038t0009g0250 a0001c0039t0001g0257 a0001c0040t0002g0299 a0001c0041t0001g0267	122	139	0.8777	-3	c.160 others(10): Show c.160_162delGCC	p.Ala others(5): Show p.Ala54del	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	173/2629	160/1578	54/525		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015541	GGGCGGC GGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00558.hp2 HG00597.hp1 HG00621.hp1 others(87): Show HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG01070.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18945.hp1 NA18953.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18999.hp2 NA19010.hp1 NA19012.hp2 NA19043.hp1 NA19058.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp2 NA19079.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1	a0003 a0011 a0003 a0011	a0003c0004 a0003c0006 a0003c0009 others(4): Show a0003c0004 a0003c0006 a0003c0009 a0003c0014 a0003c0034 a0003c0042 a0011c0043	a0003c0004t0001 a0003c0004t0002 a0003c0004t0008 others(12): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0008 a0003c0004t0013 a0003c0006t0001 a0003c0006t0002 a0003c0006t0003 a0003c0006t0004 a0003c0006t0025 a0003c0006t0028 a0003c0009t0001 a0003c0014t0001 a0003c0034t0002 a0003c0042t0002 a0011c0043t0002	a0003c0004t0001g0135 a0003c0004t0001g0158 a0003c0004t0001g0160 others(84): Show a0003c0004t0001g0135 a0003c0004t0001g0158 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0167 a0003c0004t0001g0168 a0003c0004t0001g0169 a0003c0004t0001g0170 a0003c0004t0001g0176 a0003c0004t0001g0178 a0003c0004t0001g0180 a0003c0004t0001g0181 a0003c0004t0001g0189 a0003c0004t0001g0197 a0003c0004t0001g0199 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0210 a0003c0004t0002g0005 a0003c0004t0002g0132 a0003c0004t0002g0142 a0003c0004t0002g0144 a0003c0004t0002g0152 a0003c0004t0002g0153 a0003c0004t0002g0154 a0003c0004t0002g0155 a0003c0004t0002g0157 a0003c0004t0002g0185 a0003c0004t0002g0200 a0003c0004t0002g0201 a0003c0004t0002g0209 a0003c0004t0002g0213 a0003c0004t0008g0004 a0003c0004t0008g0148 a0003c0004t0013g0150 a0003c0004t0013g0156 a0003c0006t0001g0006 a0003c0006t0001g0133 a0003c0006t0001g0140 a0003c0006t0001g0141 a0003c0006t0001g0159 a0003c0006t0001g0166 a0003c0006t0001g0183 a0003c0006t0001g0187 a0003c0006t0001g0196 a0003c0006t0002g0134 a0003c0006t0002g0138 a0003c0006t0002g0146 a0003c0006t0002g0147 a0003c0006t0002g0162 a0003c0006t0002g0164 a0003c0006t0002g0173 a0003c0006t0002g0177 a0003c0006t0002g0179 a0003c0006t0002g0184 a0003c0006t0002g0188 a0003c0006t0002g0193 a0003c0006t0002g0194 a0003c0006t0002g0207 a0003c0006t0002g0208 a0003c0006t0003g0174 a0003c0006t0003g0192 a0003c0006t0004g0136 a0003c0006t0004g0137 a0003c0006t0004g0139 a0003c0006t0004g0163 a0003c0006t0025g0149 a0003c0006t0028g0143 a0003c0009t0001g0165 a0003c0009t0001g0171 a0003c0009t0001g0172 a0003c0009t0001g0175 a0003c0009t0001g0182 a0003c0009t0001g0186 a0003c0009t0001g0190 a0003c0009t0001g0191 a0003c0009t0001g0195 a0003c0009t0001g0198 a0003c0009t0001g0204 a0003c0009t0001g0211 a0003c0014t0001g0151 a0003c0014t0001g0202 a0003c0014t0001g0203 a0003c0014t0001g0212 a0003c0034t0002g0145 a0003c0042t0002g0355 a0011c0043t0002g0356	90	107	0.8411	-6	c.157 others(13): Show c.157_162delGCCGCC	p.Ala others(11): Show p.Ala53_Ala54del	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	173/2629	157/1578	53/525		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015541	GGGCGGCG others(2): Show GGGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01099.hp2 HG01891.hp1 HG02004.hp2 others(19): Show HG01099.hp2 HG01891.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02630.hp2 HG02922.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp2 HG03704.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18960.hp1	a0005 a0009 a0005 a0009	a0005c0010 a0005c0013 a0005c0018 others(5): Show a0005c0010 a0005c0013 a0005c0018 a0005c0030 a0005c0031 a0005c0032 a0005c0033 a0009c0029	a0005c0010t0001 a0005c0010t0002 a0005c0010t0005 others(8): Show a0005c0010t0001 a0005c0010t0002 a0005c0010t0005 a0005c0010t0007 a0005c0013t0002 a0005c0018t0001 a0005c0030t0001 a0005c0031t0014 a0005c0032t0023 a0005c0033t0001 a0009c0029t0002	a0005c0010t0001g0117 a0005c0010t0001g0118 a0005c0010t0001g0127 others(18): Show a0005c0010t0001g0117 a0005c0010t0001g0118 a0005c0010t0001g0127 a0005c0010t0002g0125 a0005c0010t0002g0126 a0005c0010t0002g0128 a0005c0010t0002g0130 a0005c0010t0005g0114 a0005c0010t0007g0113 a0005c0010t0007g0115 a0005c0010t0007g0116 a0005c0013t0002g0003 a0005c0013t0002g0119 a0005c0013t0002g0120 a0005c0018t0001g0123 a0005c0018t0001g0124 a0005c0030t0001g0131 a0005c0031t0014g0122 a0005c0032t0023g0121 a0005c0033t0001g0129 a0009c0029t0002g0112	22	39	0.5641	-9	c.154 others(16): Show c.154_162delGCCGCCGCC	p.Ala others(11): Show p.Ala52_Ala54del	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	173/2629	154/1578	52/525		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015541	GGGCGGCG others(5): Show GGGCGGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(98): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp1 HG01109.hp2 HG01123.hp1 HG01346.hp1 HG01358.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG03688.hp1 HG03710.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18952.hp2 NA18953.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18970.hp2 NA18975.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0002c0005 a0002c0008 others(8): Show a0002c0002 a0002c0005 a0002c0008 a0002c0016 a0002c0017 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0002c0028 a0008c0019	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(18): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0019 a0002c0002t0026 a0002c0005t0001 a0002c0005t0002 a0002c0005t0006 a0002c0005t0018 a0002c0005t0020 a0002c0005t0027 a0002c0008t0001 a0002c0008t0016 a0002c0016t0001 a0002c0017t0002 a0002c0024t0001 a0002c0025t0012 a0002c0026t0001 a0002c0027t0002 a0002c0028t0001 a0008c0019t0002	a0002c0002t0001g0002 a0002c0002t0001g0021 a0002c0002t0001g0022 others(96): Show a0002c0002t0001g0002 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0074 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0002g0020 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0071 a0002c0002t0002g0078 a0002c0002t0002g0084 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0097 a0002c0002t0003g0023 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0065 a0002c0002t0003g0093 a0002c0002t0019g0072 a0002c0002t0026g0066 a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0005t0001g0034 a0002c0005t0001g0039 a0002c0005t0001g0040 a0002c0005t0001g0051 a0002c0005t0001g0080 a0002c0005t0001g0099 a0002c0005t0001g0109 a0002c0005t0001g0110 a0002c0005t0002g0001 a0002c0005t0002g0017 a0002c0005t0002g0027 a0002c0005t0002g0028 a0002c0005t0002g0029 a0002c0005t0002g0030 a0002c0005t0002g0031 a0002c0005t0002g0033 a0002c0005t0002g0041 a0002c0005t0002g0042 a0002c0005t0002g0047 a0002c0005t0002g0075 a0002c0005t0002g0076 a0002c0005t0002g0085 a0002c0005t0002g0100 a0002c0005t0002g0104 a0002c0005t0002g0105 a0002c0005t0006g0086 a0002c0005t0018g0032 a0002c0005t0020g0038 a0002c0005t0027g0068 a0002c0008t0001g0026 a0002c0008t0001g0035 a0002c0008t0001g0046 a0002c0008t0001g0049 a0002c0008t0001g0058 a0002c0008t0001g0061 a0002c0008t0001g0064 a0002c0008t0001g0067 a0002c0008t0001g0069 a0002c0008t0001g0101 a0002c0008t0001g0102 a0002c0008t0001g0103 a0002c0008t0016g0070 a0002c0016t0001g0073 a0002c0016t0001g0088 a0002c0017t0002g0082 a0002c0017t0002g0107 a0002c0024t0001g0016 a0002c0025t0012g0077 a0002c0026t0001g0043 a0002c0027t0002g0054 a0002c0028t0001g0091 a0008c0019t0002g0009	101	118	0.8559	-12	c.151 others(19): Show c.151_162delGCCGCCGCCGCC	p.Ala others(11): Show p.Ala51_Ala54del	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	173/2629	151/1578	51/525		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015541	GGGCGGCG others(8): Show GGGCGGCGGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19030.hp2 NA19030.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0005 a0012c0022t0005	a0012c0022t0005g0014 a0012c0022t0005g0014	1	18	0.0556	-15	c.148 others(22): Show c.148_162delGCCGCCGCCGCCGCC	p.Ala others(11): Show p.Ala50_Ala54del	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	173/2629	148/1578	50/525		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015541	GGGCGGCG others(11): Show GGGCGGCGGCGGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18990.hp1 NA19087.hp1 NA18990.hp1 NA19087.hp1	a0007 a0007	a0007c0020 a0007c0021 a0007c0020 a0007c0021	a0007c0020t0003 a0007c0021t0002 a0007c0020t0003 a0007c0021t0002	a0007c0020t0003g0013 a0007c0021t0002g0012 a0007c0020t0003g0013 a0007c0021t0002g0012	2	19	0.1053	-18	c.145 others(25): Show c.145_162delGCCGCCGCCGCCGCCGCC	p.Ala others(11): Show p.Ala49_Ala54del	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	173/2629	145/1578	49/525		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015541	GGGCGGCG others(14): Show GGGCGGCGGCGGCGGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02818.hp2 HG03710.hp1 HG02818.hp2 HG03710.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0021 a0006c0015t0001 a0006c0015t0021	a0006c0015t0001g0011 a0006c0015t0021g0010 a0006c0015t0001g0011 a0006c0015t0021g0010	2	19	0.1053	-21	c.142 others(28): Show c.142_162delGCCGCCGCCGCCGCCGCCGCC	p.Ala others(11): Show p.Ala48_Ala54del	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	173/2629	142/1578	48/525		chr19	TogoVar
C16orf74_chr16_85702517_85756096	85710272	GGCTGCTG others(2): Show GGCTGCTGCT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01255.hp1 HG02109.hp1 HG02257.hp2 others(1): Show HG01255.hp1 HG02109.hp1 HG02257.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0163 a0002c0002t0001g0390 others(1): Show a0002c0002t0001g0153 a0002c0002t0001g0163 a0002c0002t0001g0390 a0002c0002t0001g0392	4	408	0.0098	-9	c.55_ others(14): Show c.55_63delAGCAGCAGC	p.Ser others(11): Show p.Ser19_Ser21del	C16orf74	ENSG00000154102.11	transcript	ENST00000284245.9	protein_coding	3/4	252/911	55/231	19/76		chr16	TogoVar
C19orf33_chr19_38299251_38310006	38304906	TGAA TGAA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00438.hp2 HG00735.hp1 HG00738.hp1 others(70): Show HG00438.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02027.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03098.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18962.hp2 NA18963.hp1 NA18969.hp1 NA18971.hp2 NA18981.hp2 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19010.hp2 NA19011.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19072.hp2 NA19082.hp1 NA19085.hp1 NA19089.hp1 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0002 a0003c0003t0002g0002	73	404	0.1807	-3	c.271 others(10): Show c.271_273delAAG	p.Lys others(5): Show p.Lys91del	C19orf33	ENSG00000167644.12	transcript	ENST00000301246.10	protein_coding	4/4	282/374	271/321	91/106	INFO_REALIGN_3_PRIME	chr19	TogoVar
C19orf33_chr19_38299251_38310006	38304914	AAGG AAGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02257.hp2 HG02258.hp1 HG03453.hp2 others(1): Show HG02257.hp2 HG02258.hp1 HG03453.hp2 HG03579.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0001 a0005c0005t0002g0001	4	404	0.0099	-3	c.274 others(10): Show c.274_276delGAG	p.Glu others(5): Show p.Glu92del	C19orf33	ENSG00000167644.12	transcript	ENST00000301246.10	protein_coding	4/4	285/374	274/321	92/106	INFO_REALIGN_3_PRIME	chr19	TogoVar
C19orf33_chr19_38299251_38310006	38304940	CAAG CAAG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00733.hp2 HG01106.hp2 HG01358.hp1 others(7): Show HG00733.hp2 HG01106.hp2 HG01358.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG03453.hp2 HG03579.hp2 HG03654.hp1 NA20300.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0005 a0004c0004 a0005c0005	a0004c0004t0002 a0005c0005t0002 a0004c0004t0002 a0005c0005t0002	a0004c0004t0002g0003 a0004c0004t0002g0004 a0005c0005t0002g0001 a0004c0004t0002g0003 a0004c0004t0002g0004 a0005c0005t0002g0001	10	404	0.0248	-3	c.304 others(10): Show c.304_306delAAG	p.Lys others(6): Show p.Lys102del	C19orf33	ENSG00000167644.12	transcript	ENST00000301246.10	protein_coding	4/4	315/374	304/321	102/106	INFO_REALIGN_3_PRIME	chr19	TogoVar
C2_chr6_31922717_31950672	31934288	ATGGTGGA others(21): Show ATGGTGGACAGGGTCAGGAATCAGGAGTC	A A	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG00323.hp2 HG01123.hp1 HG00323.hp2 HG01123.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0083 a0003c0005t0001g0086 a0003c0005t0001g0083 a0003c0005t0001g0086	2	394	0.0051	-28	c.841 others(38): Show c.841_849+19delGTGGACAGGGTCAGGAATCAGGAGTCTG	p.Val others(13): Show p.Val281_Arg283del	C2	ENSG00000166278.16	transcript	ENST00000299367.10	protein_coding	6/18	877/2610	841/2259	281/752	INFO_REALIGN_3_PRIME	chr6	TogoVar
C6orf132_chr6_42096119_42147620	42104971	ACTCCTC ACTCCTC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00639.hp1 HG00733.hp1 HG00738.hp1 others(9): Show HG00639.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG03491.hp2 HG03492.hp1 HG03927.hp1 NA20805.hp2	a0007 a0012 a0013 a0007 a0012 a0013	a0007c0008 a0012c0024 a0012c0046 others(1): Show a0007c0008 a0012c0024 a0012c0046 a0013c0019	a0007c0008t0005 a0012c0024t0004 a0012c0046t0033 others(1): Show a0007c0008t0005 a0012c0024t0004 a0012c0046t0033 a0013c0019t0005	a0007c0008t0005g0158 a0007c0008t0005g0173 a0007c0008t0005g0174 others(7): Show a0007c0008t0005g0158 a0007c0008t0005g0173 a0007c0008t0005g0174 a0007c0008t0005g0224 a0007c0008t0005g0225 a0007c0008t0005g0226 a0007c0008t0005g0244 a0012c0024t0004g0006 a0012c0046t0033g0085 a0013c0019t0005g0004	12	362	0.0331	-6	c.293 others(15): Show c.2935_2940delGAGGAG	p.Glu others(13): Show p.Glu979_Glu980del	C6orf132	ENSG00000188112.10	transcript	ENST00000341865.9	protein_coding	4/5	3116/6385	2935/3567	979/1188		chr6	TogoVar
C9orf57_chr9_72046376_72065613	72059247	CGAATAAG others(17): Show CGAATAAGATAACACCTAAGAGGCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0254 a0004c0007t0001g0254	1	448	0.0022	-24	c.61_ others(29): Show c.61_84delCGCCTCTTAGGTGTTATCTTATTC	p.Arg others(11): Show p.Arg21_Phe28del	C9orf57	ENSG00000204669.11	transcript	ENST00000651200.2	protein_coding	2/5	254/1510	61/420	21/139		chr9	TogoVar
CABLES1_chr18_23130485_23265470	23136050	GGGCGCCG others(2): Show GGGCGCCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00438.hp1 HG00597.hp2 HG00673.hp1 others(56): Show HG00438.hp1 HG00597.hp2 HG00673.hp1 HG00738.hp1 HG01070.hp2 HG01167.hp1 HG01256.hp2 HG01361.hp2 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp2 HG02074.hp1 HG02129.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02735.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03492.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18906.hp2 NA18945.hp1 NA18948.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18998.hp1 NA19002.hp1 NA19005.hp2 NA19010.hp1 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0005 a0006c0013 a0002c0002 a0002c0005 a0006c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(13): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0002c0002t0010 a0002c0002t0016 a0002c0002t0017 a0002c0002t0024 a0002c0002t0041 a0002c0002t0043 a0002c0005t0003 a0002c0005t0006 a0002c0005t0020 a0002c0005t0042 a0006c0013t0045	a0002c0002t0001g0082 a0002c0002t0001g0088 a0002c0002t0001g0108 others(56): Show a0002c0002t0001g0082 a0002c0002t0001g0088 a0002c0002t0001g0108 a0002c0002t0001g0114 a0002c0002t0001g0123 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0142 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0172 a0002c0002t0001g0180 a0002c0002t0001g0233 a0002c0002t0001g0267 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0092 a0002c0002t0002g0107 a0002c0002t0002g0162 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0100 a0002c0002t0003g0122 a0002c0002t0003g0124 a0002c0002t0003g0126 a0002c0002t0003g0148 a0002c0002t0003g0150 a0002c0002t0003g0151 a0002c0002t0003g0155 a0002c0002t0003g0174 a0002c0002t0003g0220 a0002c0002t0006g0083 a0002c0002t0006g0125 a0002c0002t0006g0132 a0002c0002t0006g0157 a0002c0002t0006g0178 a0002c0002t0006g0179 a0002c0002t0009g0131 a0002c0002t0010g0087 a0002c0002t0010g0113 a0002c0002t0016g0105 a0002c0002t0017g0120 a0002c0002t0024g0084 a0002c0002t0041g0091 a0002c0002t0043g0127 a0002c0005t0003g0106 a0002c0005t0006g0118 a0002c0005t0020g0119 a0002c0005t0042g0121 a0006c0013t0045g0144	59	276	0.2138	-9	c.295 others(16): Show c.295_303delGGCGGCGCC	p.Gly others(12): Show p.Gly99_Ala101del	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/10	573/5283	295/1902	99/633	INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1A_chr19_13201442_13511479	13207858	CCTG CCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00438.hp1 HG00639.hp1 HG01192.hp2 others(30): Show HG00438.hp1 HG00639.hp1 HG01192.hp2 HG01255.hp2 HG01934.hp1 HG02109.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02809.hp2 HG02896.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03704.hp2 HG03942.hp2 HG06807.hp2 NA18522.hp2 NA18944.hp1 NA18964.hp1 NA18975.hp1 NA19065.hp1 NA19065.hp2 NA19084.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0003 a0010 a0018 others(4): Show a0003 a0010 a0018 a0019 a0021 a0036 a0040	a0003c0013 a0003c0015 a0003c0035 others(23): Show a0003c0013 a0003c0015 a0003c0035 a0003c0039 a0003c0046 a0003c0054 a0003c0055 a0003c0056 a0003c0073 a0003c0077 a0003c0084 a0003c0094 a0003c0105 a0003c0108 a0003c0110 a0003c0116 a0010c0053 a0010c0083 a0010c0107 a0010c0128 a0018c0017 a0019c0090 a0019c0092 a0021c0028 a0036c0069 a0040c0119	a0003c0013t0001 a0003c0013t0002 a0003c0015t0001 others(26): Show a0003c0013t0001 a0003c0013t0002 a0003c0015t0001 a0003c0015t0002 a0003c0035t0002 a0003c0035t0011 a0003c0039t0001 a0003c0046t0002 a0003c0054t0004 a0003c0055t0019 a0003c0056t0002 a0003c0073t0003 a0003c0077t0003 a0003c0084t0002 a0003c0094t0002 a0003c0105t0006 a0003c0108t0005 a0003c0110t0002 a0003c0116t0004 a0010c0053t0002 a0010c0083t0004 a0010c0107t0007 a0010c0128t0001 a0018c0017t0004 a0019c0090t0002 a0019c0092t0002 a0021c0028t0002 a0036c0069t0004 a0040c0119t0012	a0003c0013t0001g0150 a0003c0013t0002g0041 a0003c0013t0002g0064 others(30): Show a0003c0013t0001g0150 a0003c0013t0002g0041 a0003c0013t0002g0064 a0003c0015t0001g0018 a0003c0015t0002g0119 a0003c0015t0002g0166 a0003c0035t0002g0077 a0003c0035t0011g0005 a0003c0039t0001g0074 a0003c0046t0002g0115 a0003c0054t0004g0053 a0003c0055t0019g0071 a0003c0056t0002g0065 a0003c0073t0003g0035 a0003c0077t0003g0023 a0003c0084t0002g0141 a0003c0094t0002g0208 a0003c0105t0006g0143 a0003c0108t0005g0210 a0003c0110t0002g0137 a0003c0116t0004g0111 a0010c0053t0002g0190 a0010c0083t0004g0159 a0010c0107t0007g0004 a0010c0128t0001g0139 a0018c0017t0004g0211 a0018c0017t0004g0216 a0019c0090t0002g0161 a0019c0092t0002g0203 a0021c0028t0002g0073 a0021c0028t0002g0084 a0036c0069t0004g0026 a0040c0119t0012g0130	33	91	0.3626	-3	c.697 others(12): Show c.6973_6975delCAG	p.Gln others(7): Show p.Gln2325del	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7230/8647	6973/7521	2325/2506		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13207858	CCTGCTG CCTGCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00609.hp1 HG00609.hp2 others(86): Show HG00099.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01516.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02109.hp2 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18973.hp1 NA18979.hp2 NA18995.hp1 NA18998.hp1 NA19012.hp1 NA19043.hp2 NA19079.hp1 NA19084.hp1 NA20300.hp2 NA20905.hp1	a0001 a0005 a0011 others(8): Show a0001 a0005 a0011 a0013 a0014 a0015 a0016 a0020 a0025 a0032 a0035	a0001c0001 a0001c0004 a0001c0005 others(42): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0016 a0001c0018 a0001c0020 a0001c0026 a0001c0031 a0001c0034 a0001c0037 a0001c0038 a0001c0049 a0001c0058 a0001c0071 a0001c0072 a0001c0096 a0001c0098 a0001c0099 a0001c0106 a0001c0120 a0001c0122 a0001c0125 a0001c0126 a0005c0022 a0005c0024 a0005c0033 a0005c0066 a0005c0102 a0011c0025 a0011c0043 a0011c0103 a0013c0048 a0013c0111 a0013c0115 a0014c0027 a0014c0089 a0015c0087 a0015c0088 a0016c0040 a0016c0127 a0020c0021 a0025c0064 a0032c0113 a0035c0091	a0001c0001t0001 a0001c0004t0001 a0001c0004t0015 others(47): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0015 a0001c0005t0001 a0001c0005t0021 a0001c0006t0001 a0001c0006t0013 a0001c0016t0001 a0001c0018t0001 a0001c0020t0001 a0001c0026t0001 a0001c0026t0014 a0001c0031t0003 a0001c0034t0001 a0001c0037t0001 a0001c0038t0002 a0001c0049t0001 a0001c0058t0001 a0001c0071t0003 a0001c0072t0003 a0001c0096t0010 a0001c0098t0001 a0001c0099t0005 a0001c0106t0001 a0001c0120t0001 a0001c0122t0001 a0001c0125t0003 a0001c0126t0007 a0005c0022t0001 a0005c0024t0001 a0005c0024t0002 a0005c0033t0001 a0005c0066t0001 a0005c0102t0002 a0011c0025t0001 a0011c0043t0001 a0011c0103t0001 a0013c0048t0001 a0013c0111t0001 a0013c0115t0001 a0014c0027t0001 a0014c0089t0001 a0015c0087t0001 a0015c0088t0001 a0016c0040t0001 a0016c0127t0001 a0020c0021t0001 a0025c0064t0001 a0032c0113t0003 a0035c0091t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 others(86): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0218 a0001c0004t0001g0043 a0001c0004t0001g0075 a0001c0004t0001g0080 a0001c0004t0001g0114 a0001c0004t0001g0145 a0001c0004t0001g0158 a0001c0004t0001g0199 a0001c0004t0015g0081 a0001c0005t0001g0020 a0001c0005t0001g0135 a0001c0005t0001g0179 a0001c0005t0001g0201 a0001c0005t0001g0202 a0001c0005t0001g0204 a0001c0005t0021g0021 a0001c0006t0001g0033 a0001c0006t0001g0110 a0001c0006t0001g0133 a0001c0006t0001g0151 a0001c0006t0001g0184 a0001c0006t0001g0217 a0001c0006t0013g0136 a0001c0016t0001g0047 a0001c0016t0001g0076 a0001c0018t0001g0031 a0001c0018t0001g0062 a0001c0020t0001g0069 a0001c0020t0001g0186 a0001c0026t0001g0147 a0001c0026t0014g0104 a0001c0031t0003g0123 a0001c0031t0003g0215 a0001c0034t0001g0052 a0001c0034t0001g0079 a0001c0037t0001g0028 a0001c0038t0002g0206 a0001c0049t0001g0013 a0001c0058t0001g0083 a0001c0071t0003g0138 a0001c0072t0003g0212 a0001c0096t0010g0003 a0001c0098t0001g0101 a0001c0099t0005g0019 a0001c0106t0001g0121 a0001c0120t0001g0012 a0001c0122t0001g0176 a0001c0125t0003g0213 a0001c0126t0007g0006 a0005c0022t0001g0090 a0005c0022t0001g0108 a0005c0024t0001g0214 a0005c0024t0002g0118 a0005c0033t0001g0010 a0005c0033t0001g0170 a0005c0066t0001g0024 a0005c0102t0002g0122 a0011c0025t0001g0030 a0011c0025t0001g0093 a0011c0043t0001g0036 a0011c0103t0001g0200 a0013c0048t0001g0140 a0013c0111t0001g0209 a0013c0115t0001g0068 a0014c0027t0001g0116 a0014c0027t0001g0182 a0014c0089t0001g0144 a0015c0087t0001g0102 a0015c0088t0001g0207 a0016c0040t0001g0008 a0016c0127t0001g0007 a0020c0021t0001g0045 a0020c0021t0001g0046 a0025c0064t0001g0100 a0032c0113t0003g0096 a0035c0091t0001g0034	89	147	0.6054	-6	c.697 others(15): Show c.6970_6975delCAGCAG	p.Gln others(15): Show p.Gln2324_Gln2325del	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7230/8647	6970/7521	2324/2506		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13207858	CCTGCTGC others(2): Show CCTGCTGCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02055.hp2 HG02280.hp2 NA19043.hp1 HG02055.hp2 HG02280.hp2 NA19043.hp1	a0017 a0028 a0017 a0028	a0017c0074 a0017c0078 a0028c0112 a0017c0074 a0017c0078 a0028c0112	a0017c0074t0005 a0017c0078t0008 a0028c0112t0005 a0017c0074t0005 a0017c0078t0008 a0028c0112t0005	a0017c0074t0005g0162 a0017c0078t0008g0149 a0028c0112t0005g0205 a0017c0074t0005g0162 a0017c0078t0008g0149 a0028c0112t0005g0205	3	61	0.0492	-9	c.696 others(18): Show c.6967_6975delCAGCAGCAG	p.Gln others(15): Show p.Gln2323_Gln2325del	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7230/8647	6967/7521	2323/2506		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13207858	CCTGCTGC others(5): Show CCTGCTGCTGCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02647.hp2 HG02647.hp2	a0033 a0033	a0033c0097 a0033c0097	a0033c0097t0001 a0033c0097t0001	a0033c0097t0001g0054 a0033c0097t0001g0054	1	59	0.0169	-12	c.696 others(21): Show c.6964_6975delCAGCAGCAGCAG	p.Gln others(15): Show p.Gln2322_Gln2325del	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7230/8647	6964/7521	2322/2506		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13207858	CCTGCTGC others(8): Show CCTGCTGCTGCTGCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04204.hp2 HG04204.hp2	a0037 a0037	a0037c0068 a0037c0068	a0037c0068t0001 a0037c0068t0001	a0037c0068t0001g0171 a0037c0068t0001g0171	1	59	0.0169	-15	c.696 others(24): Show c.6961_6975delCAGCAGCAGCAGCAG	p.Gln others(15): Show p.Gln2321_Gln2325del	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7230/8647	6961/7521	2321/2506		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13207858	CCTGCTGC others(11): Show CCTGCTGCTGCTGCTGCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp1 HG00438.hp2 others(13): Show HG00099.hp1 HG00140.hp1 HG00438.hp2 HG00544.hp1 HG01109.hp1 HG01884.hp1 HG02083.hp2 HG02129.hp1 HG02258.hp2 HG02698.hp2 HG02970.hp2 HG03834.hp1 HG03942.hp1 NA18975.hp2 NA18979.hp1 NA19000.hp1	a0004 a0022 a0023 others(4): Show a0004 a0022 a0023 a0026 a0030 a0031 a0042	a0004c0007 a0004c0047 a0004c0080 others(9): Show a0004c0007 a0004c0047 a0004c0080 a0004c0093 a0004c0123 a0022c0079 a0022c0109 a0023c0042 a0026c0041 a0030c0044 a0031c0059 a0042c0045	a0004c0007t0001 a0004c0047t0001 a0004c0080t0001 others(9): Show a0004c0007t0001 a0004c0047t0001 a0004c0080t0001 a0004c0093t0001 a0004c0123t0001 a0022c0079t0002 a0022c0109t0001 a0023c0042t0001 a0026c0041t0001 a0030c0044t0001 a0031c0059t0007 a0042c0045t0001	a0004c0007t0001g0050 a0004c0007t0001g0058 a0004c0007t0001g0098 others(13): Show a0004c0007t0001g0050 a0004c0007t0001g0058 a0004c0007t0001g0098 a0004c0007t0001g0105 a0004c0007t0001g0146 a0004c0047t0001g0178 a0004c0080t0001g0128 a0004c0093t0001g0044 a0004c0123t0001g0078 a0022c0079t0002g0059 a0022c0109t0001g0198 a0023c0042t0001g0092 a0026c0041t0001g0107 a0030c0044t0001g0194 a0031c0059t0007g0001 a0042c0045t0001g0173	16	74	0.2162	-18	c.695 others(27): Show c.6958_6975delCAGCAGCAGCAGCAGCAG	p.Gln others(15): Show p.Gln2320_Gln2325del	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7230/8647	6958/7521	2320/2506		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13207858	CCTGCTGC others(20): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18968.hp1 NA18968.hp1	a0039 a0039	a0039c0057 a0039c0057	a0039c0057t0009 a0039c0057t0009	a0039c0057t0009g0002 a0039c0057t0009g0002	1	59	0.0169	-27	c.694 others(36): Show c.6949_6975delCAGCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(15): Show p.Gln2317_Gln2325del	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7230/8647	6949/7521	2317/2506		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138023718	TGGAGAAG others(8): Show TGGAGAAGGAGACCAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(127): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0006 a0007 others(3): Show a0001 a0006 a0007 a0010 a0015 a0016	a0001c0002 a0001c0003 a0001c0005 others(25): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0012 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0022 a0001c0032 a0001c0039 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0051 a0006c0016 a0007c0021 a0010c0027 a0015c0031 a0016c0030	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(56): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0021 a0001c0002t0030 a0001c0002t0033 a0001c0002t0037 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0034 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0005t0004 a0001c0007t0001 a0001c0007t0003 a0001c0009t0003 a0001c0012t0001 a0001c0012t0002 a0001c0012t0004 a0001c0013t0008 a0001c0013t0009 a0001c0013t0014 a0001c0013t0027 a0001c0015t0002 a0001c0015t0009 a0001c0017t0002 a0001c0017t0006 a0001c0017t0016 a0001c0018t0003 a0001c0018t0009 a0001c0018t0018 a0001c0019t0017 a0001c0019t0025 a0001c0022t0002 a0001c0022t0020 a0001c0032t0001 a0001c0039t0001 a0001c0042t0005 a0001c0043t0007 a0001c0044t0016 a0001c0045t0006 a0001c0046t0006 a0001c0047t0002 a0001c0048t0040 a0001c0049t0007 a0001c0051t0028 a0006c0016t0007 a0007c0021t0010 a0007c0021t0019 a0010c0027t0024 a0015c0031t0002 a0016c0030t0003	a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0056 others(127): Show a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0123 a0001c0002t0001g0173 a0001c0002t0001g0205 a0001c0002t0001g0212 a0001c0002t0001g0238 a0001c0002t0002g0044 a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0071 a0001c0002t0005g0023 a0001c0002t0008g0025 a0001c0002t0008g0052 a0001c0002t0008g0065 a0001c0002t0008g0241 a0001c0002t0011g0051 a0001c0002t0013g0012 a0001c0002t0013g0128 a0001c0002t0021g0075 a0001c0002t0030g0120 a0001c0002t0033g0024 a0001c0002t0037g0242 a0001c0003t0005g0006 a0001c0003t0005g0015 a0001c0003t0005g0021 a0001c0003t0005g0109 a0001c0003t0005g0129 a0001c0003t0006g0110 a0001c0003t0006g0136 a0001c0003t0007g0107 a0001c0003t0007g0108 a0001c0003t0007g0114 a0001c0003t0007g0118 a0001c0003t0010g0130 a0001c0003t0010g0131 a0001c0003t0010g0133 a0001c0003t0010g0135 a0001c0003t0034g0112 a0001c0003t0043g0127 a0001c0003t0044g0009 a0001c0003t0045g0008 a0001c0005t0004g0007 a0001c0005t0004g0027 a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0086 a0001c0005t0004g0088 a0001c0005t0004g0089 a0001c0005t0004g0090 a0001c0005t0004g0092 a0001c0005t0004g0093 a0001c0005t0004g0094 a0001c0005t0004g0095 a0001c0005t0004g0098 a0001c0005t0004g0137 a0001c0005t0004g0182 a0001c0007t0001g0031 a0001c0007t0003g0026 a0001c0007t0003g0034 a0001c0007t0003g0035 a0001c0007t0003g0039 a0001c0007t0003g0041 a0001c0007t0003g0042 a0001c0007t0003g0043 a0001c0007t0003g0046 a0001c0007t0003g0055 a0001c0007t0003g0074 a0001c0007t0003g0225 a0001c0009t0003g0022 a0001c0009t0003g0084 a0001c0009t0003g0085 a0001c0009t0003g0087 a0001c0009t0003g0091 a0001c0009t0003g0096 a0001c0012t0001g0028 a0001c0012t0001g0029 a0001c0012t0001g0050 a0001c0012t0002g0049 a0001c0012t0004g0038 a0001c0013t0008g0066 a0001c0013t0009g0099 a0001c0013t0009g0196 a0001c0013t0014g0158 a0001c0013t0027g0240 a0001c0015t0002g0102 a0001c0015t0009g0080 a0001c0015t0009g0081 a0001c0017t0002g0189 a0001c0017t0006g0122 a0001c0017t0016g0119 a0001c0018t0003g0048 a0001c0018t0009g0037 a0001c0018t0018g0030 a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126 a0001c0022t0002g0001 a0001c0022t0020g0002 a0001c0032t0001g0072 a0001c0039t0001g0180 a0001c0042t0005g0239 a0001c0043t0007g0117 a0001c0044t0016g0106 a0001c0045t0006g0116 a0001c0046t0006g0101 a0001c0047t0002g0100 a0001c0048t0040g0134 a0001c0049t0007g0111 a0001c0051t0028g0105 a0006c0016t0007g0053 a0006c0016t0007g0062 a0006c0016t0007g0198 a0007c0021t0010g0004 a0007c0021t0019g0003 a0007c0021t0019g0005 a0010c0027t0024g0149 a0015c0031t0002g0113 a0016c0030t0003g0097	130	246	0.5285	-15	c.298 others(24): Show c.2986_3000delACCACGGAGAAGGAG	p.Thr others(14): Show p.Thr996_Glu1000del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	19/47	3138/9792	2986/7020	996/2339	INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNG6_chr19_53986637_54017666	53992916	GCGGCGGG others(11): Show GCGGCGGGGGGCCGCGGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02602.hp2 HG02602.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0322 a0005c0007t0001g0322	1	428	0.0023	-18	c.46_ others(23): Show c.46_63delGGGGCCGCGGGCCGGCGG	p.Gly others(11): Show p.Gly16_Arg21del	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	1/4	1287/2501	46/783	16/260	INFO_REALIGN_3_PRIME	chr19	TogoVar
CALCOCO2_chr17_48826035_48870245	48852574	GTTAGAGC others(23): Show GTTAGAGCAGCTGAAAAAGGAAAATGACCAC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18947.hp2 NA18947.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0008 a0005c0007t0008	a0005c0007t0008g0014 a0005c0007t0008g0014	1	326	0.0031	-30	c.772 others(37): Show c.772_801delTTAGAGCAGCTGAAAAAGGAAAATGACCAC	p.Leu others(13): Show p.Leu258_His267del	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	8/13	826/3635	772/1341	258/446		chr17	TogoVar
CALM1_chr14_90392029_90413268	90404357	AACAATTG others(17): Show AACAATTGCTGAATGTTCACAGGAT	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0046 a0002c0003t0046	a0002c0003t0046g0059 a0002c0003t0046g0059	1	406	0.0025	-24	c.286 others(34): Show c.286-21_288delACAATTGCTGAATGTTCACAGGAT	p.Asp others(11): Show p.Asp96_Gly97del	CALM1	ENSG00000198668.14	transcript	ENST00000356978.9	protein_coding	5/6		286/450	96/149		chr14	TogoVar
CAPN14_chr2_31168056_31222515	31199529	TCTC TCTC	T T	conservative_inframe_deletion others(1): Show conservative_inframe_deletion splice_region_variant	MODERATE	NA18963.hp2 NA18979.hp2 NA18999.hp1 others(1): Show NA18963.hp2 NA18979.hp2 NA18999.hp1 NA19086.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0002 a0011c0016t0002	a0011c0016t0002g0049 a0011c0016t0002g0057 a0011c0016t0002g0058 others(1): Show a0011c0016t0002g0049 a0011c0016t0002g0057 a0011c0016t0002g0058 a0011c0016t0002g0086	4	324	0.0123	-3	c.727 others(10): Show c.727_729delGAG	p.Glu others(6): Show p.Glu243del	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	7/22	841/3792	727/2055	243/684		chr2	TogoVar
CARD10_chr22_37485362_37524415	37510301	GCTCCTT GCTCCTT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00323.hp1 HG00408.hp1 HG00438.hp2 others(101): Show HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG02040.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp2 NA18993.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp1 NA19066.hp1 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 others(9): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0016 a0001c0017 a0001c0026 a0001c0027 a0001c0041 a0001c0042 a0001c0043	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(15): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0006t0013 a0001c0007t0001 a0001c0010t0001 a0001c0016t0001 a0001c0017t0003 a0001c0026t0001 a0001c0026t0011 a0001c0027t0002 a0001c0041t0001 a0001c0042t0002 a0001c0043t0002	a0001c0002t0001g0214 a0001c0002t0002g0006 a0001c0002t0002g0007 others(92): Show a0001c0002t0001g0214 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0066 a0001c0002t0002g0131 a0001c0002t0002g0178 a0001c0002t0002g0180 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0227 a0001c0002t0003g0019 a0001c0002t0007g0194 a0001c0002t0007g0205 a0001c0003t0001g0010 a0001c0003t0001g0016 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0151 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0156 a0001c0003t0001g0181 a0001c0003t0001g0183 a0001c0003t0001g0196 a0001c0003t0001g0201 a0001c0003t0001g0213 a0001c0003t0001g0219 a0001c0003t0001g0225 a0001c0003t0001g0229 a0001c0003t0001g0240 a0001c0003t0001g0254 a0001c0003t0002g0071 a0001c0006t0001g0021 a0001c0006t0001g0022 a0001c0006t0001g0023 a0001c0006t0001g0025 a0001c0006t0001g0026 a0001c0006t0001g0028 a0001c0006t0001g0029 a0001c0006t0001g0030 a0001c0006t0001g0031 a0001c0006t0001g0032 a0001c0006t0001g0033 a0001c0006t0001g0034 a0001c0006t0001g0035 a0001c0006t0013g0024 a0001c0007t0001g0003 a0001c0007t0001g0069 a0001c0007t0001g0072 a0001c0007t0001g0076 a0001c0007t0001g0140 a0001c0007t0001g0223 a0001c0007t0001g0246 a0001c0007t0001g0252 a0001c0010t0001g0015 a0001c0010t0001g0135 a0001c0010t0001g0136 a0001c0010t0001g0217 a0001c0010t0001g0218 a0001c0016t0001g0141 a0001c0016t0001g0147 a0001c0016t0001g0150 a0001c0017t0003g0002 a0001c0017t0003g0018 a0001c0026t0001g0186 a0001c0026t0011g0020 a0001c0027t0002g0027 a0001c0041t0001g0155 a0001c0042t0002g0199 a0001c0043t0002g0212	104	268	0.3881	-6	c.814 others(13): Show c.814_819delAAGGAG	p.Lys others(13): Show p.Lys272_Glu273del	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	4/20	1034/4111	814/3099	272/1032		chr22	TogoVar
CARD10_chr22_37485362_37524415	37510301	GCTCCTTC others(5): Show GCTCCTTCTCCTT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00621.hp1 HG00621.hp1	a0008 a0008	a0008c0044 a0008c0044	a0008c0044t0002 a0008c0044t0002	a0008c0044t0002g0159 a0008c0044t0002g0159	1	165	0.0061	-12	c.808 others(19): Show c.808_819delAAGGAGAAGGAG	p.Lys others(13): Show p.Lys270_Glu273del	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	4/20	1034/4111	808/3099	270/1032		chr22	TogoVar
CARMIL2_chr16_67640144_67662569	67652328	GAGA GAGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02055.hp2 HG02145.hp1 HG02602.hp2 others(4): Show HG02055.hp2 HG02145.hp1 HG02602.hp2 HG02630.hp1 HG03486.hp1 HG03654.hp1 NA19030.hp2	a0002 a0014 a0002 a0014	a0002c0003 a0014c0017 a0002c0003 a0014c0017	a0002c0003t0001 a0014c0017t0001 a0002c0003t0001 a0014c0017t0001	a0002c0003t0001g0011 a0002c0003t0001g0077 a0002c0003t0001g0078 others(1): Show a0002c0003t0001g0011 a0002c0003t0001g0077 a0002c0003t0001g0078 a0014c0017t0001g0011	7	280	0.0250	-3	c.280 others(12): Show c.2809_2811delAAG	p.Lys others(6): Show p.Lys937del	CARMIL2	ENSG00000159753.15	transcript	ENST00000334583.11	protein_coding	27/38	2912/4462	2809/4308	937/1435	INFO_REALIGN_3_PRIME	chr16	TogoVar
CBX4_chr17_79828156_79844440	79834441	CGTGGTGG others(2): Show CGTGGTGGTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18979.hp1 NA18994.hp2 NA19066.hp2 NA18979.hp1 NA18994.hp2 NA19066.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0036 a0005c0006t0001g0123 a0005c0006t0001g0036 a0005c0006t0001g0123	3	400	0.0075	-9	c.119 others(18): Show c.1192_1200delCACCACCAC	p.His others(13): Show p.His398_His400del	CBX4	ENSG00000141582.15	transcript	ENST00000269397.9	protein_coding	5/5	1389/2675	1192/1683	398/560		chr17	TogoVar
CC2D2A_chr4_15464882_15606552	15511381	GGAA GGAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG01070.hp2 HG01109.hp2 others(8): Show HG00140.hp1 HG01070.hp2 HG01109.hp2 HG01515.hp1 HG01978.hp1 HG01993.hp2 HG02148.hp1 HG02486.hp2 HG02602.hp2 HG03239.hp1 HG04228.hp1	a0003 a0003	a0003c0007 a0003c0010 a0003c0007 a0003c0010	a0003c0007t0002 a0003c0010t0002 a0003c0007t0002 a0003c0010t0002	a0003c0007t0002g0077 a0003c0007t0002g0078 a0003c0007t0002g0080 others(8): Show a0003c0007t0002g0077 a0003c0007t0002g0078 a0003c0007t0002g0080 a0003c0007t0002g0081 a0003c0007t0002g0083 a0003c0007t0002g0084 a0003c0007t0002g0085 a0003c0007t0002g0086 a0003c0007t0002g0088 a0003c0010t0002g0082 a0003c0010t0002g0087	11	342	0.0322	-3	c.685 others(10): Show c.685_687delGAA	p.Glu others(6): Show p.Glu229del	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	8/37	879/5184	685/4863	229/1620	INFO_REALIGN_3_PRIME	chr4	TogoVar
CCDC137_chr17_81661737_81678899	81672586	TGGA TGGA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01358.hp2 HG02055.hp1 HG02559.hp2 others(4): Show HG01358.hp2 HG02055.hp1 HG02559.hp2 HG02723.hp1 HG02965.hp1 HG06807.hp1 NA18522.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0017 a0004c0004t0004g0019 a0004c0004t0004g0020 others(1): Show a0004c0004t0004g0017 a0004c0004t0004g0019 a0004c0004t0004g0020 a0004c0004t0004g0033	7	410	0.0171	-3	c.760 others(10): Show c.760_762delGAG	p.Glu others(6): Show p.Glu254del	CCDC137	ENSG00000185298.13	transcript	ENST00000329214.13	protein_coding	6/6	790/2095	760/870	254/289	INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC157_chr22_30352007_30383673	30372245	AAGG AAGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01891.hp2 HG02055.hp1 HG02922.hp2 HG01891.hp2 HG02055.hp1 HG02922.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0020 a0006c0011t0002g0079 a0006c0011t0002g0020 a0006c0011t0002g0079	3	438	0.0068	-3	c.129 others(12): Show c.1297_1299delGAG	p.Glu others(6): Show p.Glu433del	CCDC157	ENSG00000187860.11	transcript	ENST00000338306.8	protein_coding	7/12	1588/4478	1297/2259	433/752	INFO_REALIGN_3_PRIME	chr22	TogoVar
CCDC157_chr22_30352007_30383673	30376487	CCAGCCCT others(17): Show CCAGCCCTGCACATCCCCACCTCGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00741.hp2 HG01496.hp1 HG03471.hp1 others(4): Show HG00741.hp2 HG01496.hp1 HG03471.hp1 HG04204.hp2 NA18747.hp1 NA19066.hp2 NA19240.hp1	a0005 a0008 a0010 a0005 a0008 a0010	a0005c0009 a0008c0012 a0010c0028 a0005c0009 a0008c0012 a0010c0028	a0005c0009t0001 a0008c0012t0004 a0010c0028t0001 a0005c0009t0001 a0008c0012t0004 a0010c0028t0001	a0005c0009t0001g0052 a0005c0009t0001g0150 a0005c0009t0001g0163 others(3): Show a0005c0009t0001g0052 a0005c0009t0001g0150 a0005c0009t0001g0163 a0008c0012t0004g0059 a0008c0012t0004g0215 a0010c0028t0001g0201	7	433	0.0162	-24	c.206 others(33): Show c.2068_2091delCCTCGGCAGCCCTGCACATCCCCA	p.Pro others(13): Show p.Pro690_Pro697del	CCDC157	ENSG00000187860.11	transcript	ENST00000338306.8	protein_coding	12/12	2359/4478	2068/2259	690/752	INFO_REALIGN_3_PRIME	chr22	TogoVar
CCDC168_chr13_102724367_102764072	102729732	GGAAACAA others(14): Show GGAAACAATCCAATCTTTCTGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19059.hp1 NA19059.hp1	a0091 a0091	a0091c0084 a0091c0084	a0091c0084t0001 a0091c0084t0001	a0091c0084t0001g0116 a0091c0084t0001g0116	1	358	0.0028	-21	c.209 others(32): Show c.20944_20964delTCAGAAAGATTGGATTGTTTC	p.Ser others(15): Show p.Ser6982_Phe6988del	CCDC168	ENSG00000175820.4	transcript	ENST00000322527.4	protein_coding	4/4	21104/21470	20944/21246	6982/7081		chr13	TogoVar
CCDC168_chr13_102724367_102764072	102747525	AAGACCCC others(5): Show AAGACCCCAGGGC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19059.hp2 NA19059.hp2	a0092 a0092	a0092c0108 a0092c0108	a0092c0108t0001 a0092c0108t0001	a0092c0108t0001g0216 a0092c0108t0001g0216	1	358	0.0028	-12	c.316 others(21): Show c.3160_3171delGCCCTGGGGTCT	p.Ala others(15): Show p.Ala1054_Ser1057del	CCDC168	ENSG00000175820.4	transcript	ENST00000322527.4	protein_coding	4/4	3311/21470	3160/21246	1054/7081		chr13	TogoVar
CCDC33_chr15_74231326_74341141	74244059	TAAG TAAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(77): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01943.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18947.hp1 NA18947.hp2 NA18953.hp2 NA18959.hp2 NA18969.hp2 NA18977.hp2 NA18991.hp2 NA18993.hp2 NA18997.hp2 NA19010.hp1 NA19054.hp2 NA19066.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2	a0002 a0008 a0010 others(1): Show a0002 a0008 a0010 a0011	a0002c0002 a0002c0004 a0002c0013 others(11): Show a0002c0002 a0002c0004 a0002c0013 a0002c0018 a0002c0019 a0002c0028 a0002c0030 a0002c0033 a0002c0034 a0008c0010 a0010c0029 a0010c0031 a0010c0032 a0011c0020	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0004t0001 a0002c0004t0002 a0002c0013t0002 a0002c0018t0002 a0002c0019t0002 a0002c0028t0002 a0002c0030t0002 a0002c0033t0002 a0002c0034t0002 a0008c0010t0002 a0010c0029t0001 a0010c0031t0002 a0010c0032t0002 a0011c0020t0001	a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 others(77): Show a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0002g0009 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0030 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0038 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0050 a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0005g0005 a0002c0004t0001g0261 a0002c0004t0002g0011 a0002c0004t0002g0019 a0002c0004t0002g0029 a0002c0004t0002g0032 a0002c0004t0002g0036 a0002c0004t0002g0037 a0002c0004t0002g0041 a0002c0004t0002g0043 a0002c0004t0002g0049 a0002c0004t0002g0052 a0002c0004t0002g0053 a0002c0004t0002g0054 a0002c0004t0002g0055 a0002c0004t0002g0056 a0002c0004t0002g0057 a0002c0004t0002g0058 a0002c0004t0002g0061 a0002c0004t0002g0072 a0002c0004t0002g0112 a0002c0013t0002g0010 a0002c0013t0002g0028 a0002c0013t0002g0048 a0002c0018t0002g0046 a0002c0018t0002g0051 a0002c0019t0002g0023 a0002c0019t0002g0059 a0002c0028t0002g0031 a0002c0030t0002g0006 a0002c0033t0002g0022 a0002c0034t0002g0021 a0008c0010t0002g0008 a0008c0010t0002g0014 a0008c0010t0002g0039 a0008c0010t0002g0040 a0010c0029t0001g0225 a0010c0031t0002g0098 a0010c0032t0002g0042 a0011c0020t0001g0254 a0011c0020t0001g0255	80	286	0.2797	-3	c.100 others(10): Show c.100_102delAAG	p.Lys others(5): Show p.Lys34del	CCDC33	ENSG00000140481.15	transcript	ENST00000398814.8	protein_coding	2/19	494/2750	100/2268	34/755	INFO_REALIGN_3_PRIME	chr15	TogoVar
CCNL1_chr3_157142553_157165147	157159983	CCGTCGTG others(5): Show CCGTCGTGGTCGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0099 a0002c0005t0001g0099	1	424	0.0024	-12	c.100 others(19): Show c.100_111delACGACCACGACG	p.Thr others(11): Show p.Thr34_Thr37del	CCNL1	ENSG00000163660.12	transcript	ENST00000295926.8	protein_coding	1/11	164/2322	100/1581	34/526		chr3	TogoVar
CD101_chr1_116996760_117041552	117034068	GAGGGAAG others(26): Show GAGGGAAGACGAGGAGGAAGATGAAGGCAACTGA	G G	stop_lost others(1): Show stop_lost conservative_inframe_deletion	HIGH	HG02683.hp2 HG02683.hp2	a0023 a0023	a0023c0041 a0023c0041	a0023c0041t0005 a0023c0041t0005	a0023c0041t0005g0243 a0023c0041t0005g0243	1	424	0.0024	-33	c.303 others(40): Show c.3035_*1delGGGAAGACGAGGAGGAAGATGAAGGCAACTGAA	p.Arg others(21): Show p.Arg1012_Ter1022delins???	CD101	ENSG00000134256.13	transcript	ENST00000682167.1	protein_coding	9/10	3093/3542	3035/3066	1012/1021	INFO_REALIGN_3_PRIME	chr1	TogoVar
CD209_chr19_7734993_7752534	7745812	AGGTCAGC others(62): Show AGGTCAGCTCCTGGTAGATCTCCTGCAGCTTAGATTTCTCTGGAAGCTCA CCCACTGCAGCCTTCAGCCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01934.hp2 HG03471.hp1 NA18522.hp1 HG01934.hp2 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0022 a0001c0001t0018g0022	3	452	0.0066	-69	c.385 others(76): Show c.385_453delCGGCTGAAGGCTGCAGTGGGTGAGCTTCCAGAGAAATC TAAGCTGCAGGAGATCTACCAGGAGCTGACC	p.Arg others(13): Show p.Arg129_Thr151del	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding	4/7	476/4284	385/1215	129/404		chr19	TogoVar
CD36_chr7_80633642_80684274	80673381	ATATTGTG others(5): Show ATATTGTGCCTAT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00544.hp1 NA19090.hp1 HG00544.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0093 a0001c0001t0013g0112 a0001c0001t0013g0093 a0001c0001t0013g0112	2	390	0.0051	-12	c.122 others(21): Show c.1228_1239delATTGTGCCTATT	p.Ile others(13): Show p.Ile410_Ile413del	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding	13/15	1516/4598	1228/1419	410/472	INFO_REALIGN_3_PRIME	chr7	TogoVar
CDHR5_chr11_611583_629955	618683	TTGGTTGG others(86): Show TTGGTTGGTGGGAGGTGCTGGTTCCCATACCGGGGGGCATCGGCTGAGAG GTTCCTGCCTCTGGGGTCTGTGCTGTGCCCCCACCGGGTGTGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02559.hp2 HG03471.hp1 NA18522.hp2 others(1): Show HG02559.hp2 HG03471.hp1 NA18522.hp2 NA19030.hp1	a0010 a0010	a0010c0017 a0010c0034 a0010c0017 a0010c0034	a0010c0017t0001 a0010c0034t0002 a0010c0017t0001 a0010c0034t0002	a0010c0017t0001g0045 a0010c0017t0001g0131 a0010c0034t0002g0068 a0010c0017t0001g0045 a0010c0017t0001g0131 a0010c0034t0002g0068	4	408	0.0098	-93	c.178 others(102): Show c.1783_1875delGCCACACCCGGTGGGGGCACAGCACAGACCCCAGAG GCAGGAACCTCTCAGCCGATGCCCCCCGGTATGGGAACCAGCACCTCCCA CCAACCA	p.Ala others(13): Show p.Ala595_Pro625del	CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding	13/15	1928/3359	1783/2538	595/845		chr11	TogoVar

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